Kunkel, Louis
completed student projects: Evaluating a New Antibody for SP Cell Sorting/Differentiation Capacity of SP Cells Co-Cultured with DRGs
eCommons Login: LMK2
first name: Louis
last name: Kunkel
coauthor of: Widrick, Jeffrey
coauthor of: Beggs, Alan
coauthor of: Kohane, Zak
coauthor of: Lidov, Hart
coauthor of: Gussoni, Emanuela
full name: Louis Martens Kunkel, Ph.D.
has faculty rank: Full Professor
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person in primary position: Professor of Pediatrics
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selected publications: Authorship 1852817
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Identification of FLRT1, FLRT2, and FLRT3: a novel family of transmembrane leucine-rich repeat proteins.
PubMed Identifier: 10644439
author list: Lacy SE, Bönnemann CG, Buzney EA, Kunkel LM
published in: Genomics
information resource reference: Identification of FLRT1, FLRT2, and FLRT3: a novel family of transmembrane leucine-rich repeat proteins. Genomics. 1999 Dec 15; 62(3):417-26.
journal title abbreviation: Genomics
publication date: 1999-12-15T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Exceptional familial clustering for extreme longevity in humans.
PubMed Identifier: 11083328
author list: Perls T, Shea-Drinkwater M, Bowen-Flynn J, Ridge SB, Kang S, Joyce E, Daly M, Brewster SJ, Kunkel L, Puca AA
published in: Journal of the American Geriatrics Society
information resource reference: Exceptional familial clustering for extreme longevity in humans. J Am Geriatr Soc. 2000 Nov; 48(11):1483-5.
journal title abbreviation: J Am Geriatr Soc
publication date: 2000-11-01T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

Minimal haplotype tagging.
PubMed Identifier: 12900503
author list: Sebastiani P, Lazarus R, Weiss ST, Kunkel LM, Kohane IS, Ramoni MF
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Minimal haplotype tagging. Proc Natl Acad Sci U S A. 2003 Aug 19; 100(17):9900-5.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2003-08-04T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Absence of extraocular muscle pathology in Duchenne's muscular dystrophy: role for calcium homeostasis in extraocular muscle sparing.
PubMed Identifier: 7629506
author list: Khurana TS, Prendergast RA, Alameddine HS, Tomé FM, Fardeau M, Arahata K, Sugita H, Kunkel LM
published in: The Journal of experimental medicine
information resource reference: Absence of extraocular muscle pathology in Duchenne's muscular dystrophy: role for calcium homeostasis in extraocular muscle sparing. J Exp Med. 1995 Aug 01; 182(2):467-75.
journal title abbreviation: J Exp Med
publication date: 1995-08-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Delta-sarcoglycan is required for early zebrafish muscle organization.
PubMed Identifier: 15707578
author list: Guyon JR, Mosley AN, Jun SJ, Montanaro F, Steffen LS, Zhou Y, Nigro V, Zon LI, Kunkel LM
published in: Experimental cell research
information resource reference: Delta-sarcoglycan is required for early zebrafish muscle organization. Exp Cell Res. 2005 Mar 10; 304(1):105-15.
journal title abbreviation: Exp Cell Res
publication date: 2004-12-08T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Dystrophin distribution in heterozygote MDX mice.
PubMed Identifier: 2481825
author list: Watkins SC, Hoffman EP, Slayter HS, Kunkel LM
published in: Muscle & nerve
information resource reference: Dystrophin distribution in heterozygote MDX mice. Muscle Nerve. 1989 Oct; 12(10):861-8.
journal title abbreviation: Muscle Nerve
publication date: 1989-10-01T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 105659
type: Authorship
author rank in publication: 7
linked author: Kunkel, Louis
linked information resource: Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene.

Cloning the gene for the inherited disorder chronic granulomatous disease on the basis of its chromosomal location.
PubMed Identifier: 3472714
author list: Royer-Pokora B, Kunkel LM, Monaco AP, Goff SC, Newburger PE, Baehner RL, Cole FS, Curnutte JT, Orkin SH
published in: Cold Spring Harbor symposia on quantitative biology
information resource reference: Cloning the gene for the inherited disorder chronic granulomatous disease on the basis of its chromosomal location. Cold Spring Harb Symp Quant Biol. 1986; 51 Pt 1:177-83.
journal title abbreviation: Cold Spring Harb Symp Quant Biol
publication date: 1986-01-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene.
PubMed Identifier: 3773991
author list: Monaco AP, Neve RL, Colletti-Feener C, Bertelson CJ, Kurnit DM, Kunkel LM
published in: Nature
information resource reference: Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature. 1986 Oct 16-22; 323(6089):646-50.
journal title abbreviation: Nature
publication date: 1986-10-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

A method to codetect introduced genes and their products in gene therapy protocols.
PubMed Identifier: 9631042
author list: Gussoni E, Wang Y, Fraefel C, Miller RG, Blau HM, Geller AI, Kunkel LM
published in: Nature biotechnology
information resource reference: A method to codetect introduced genes and their products in gene therapy protocols. Nat Biotechnol. 1996 Aug; 14(8):1012-6.
journal title abbreviation: Nat Biotechnol
publication date: 1996-08-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3.
PubMed Identifier: 9631401
author list: Bönnemann CG, Wong J, Ben Hamida C, Hamida MB, Hentati F, Kunkel LM
published in: Neuromuscular disorders : NMD
information resource reference: LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3. Neuromuscul Disord. 1998 May; 8(3-4):193-7.
journal title abbreviation: Neuromuscul Disord
publication date: 1998-05-01T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations.
PubMed Identifier: 10797406
author list: Takano A, Bönnemann CG, Honda H, Sakai M, Feener CA, Kunkel LM, Sobue G
published in: Muscle & nerve
information resource reference: Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations. Muscle Nerve. 2000 May; 23(5):807-10.
journal title abbreviation: Muscle Nerve
publication date: 2000-05-01T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

Deficiency of adhalin in a patient with muscular dystrophy and cardiomyopathy.
PubMed Identifier: 8628353
author list: McNally EM, Bönnemann CG, Kunkel LM, Bhattacharya SK
published in: The New England journal of medicine
information resource reference: Deficiency of adhalin in a patient with muscular dystrophy and cardiomyopathy. N Engl J Med. 1996 Jun 13; 334(24):1610-1.
journal title abbreviation: N Engl J Med
publication date: 1996-06-13T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile.
PubMed Identifier: 11801399
author list: Bönnemann CG, Wong J, Jones KJ, Lidov HG, Feener CA, Shapiro F, Darras BT, Kunkel LM, North KN
published in: Neuromuscular disorders : NMD
information resource reference: Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile. Neuromuscul Disord. 2002 Mar; 12(3):273-80.
journal title abbreviation: Neuromuscul Disord
publication date: 2002-03-01T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy.
PubMed Identifier: 20513101
author list: Kang PB, Lidov HG, White AJ, Mitchell M, Balasubramanian A, Estrella E, Bennett RR, Darras BT, Shapiro FD, Bambach BJ, Kurtzberg J, Gussoni E, Kunkel LM
published in: Muscle & nerve
information resource reference: Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy. Muscle Nerve. 2010 Jun; 41(6):746-50.
journal title abbreviation: Muscle Nerve
publication date: 2010-06-01T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Feline muscular dystrophy with dystrophin deficiency.
PubMed Identifier: 2683799
author list: Carpenter JL, Hoffman EP, Romanul FC, Kunkel LM, Rosales RK, Ma NS, Dasbach JJ, Rae JF, Moore FM, McAfee MB
published in: The American journal of pathology
information resource reference: Feline muscular dystrophy with dystrophin deficiency. Am J Pathol. 1989 Nov; 135(5):909-19.
journal title abbreviation: Am J Pathol
publication date: 1989-11-01T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.
PubMed Identifier: 19835634
author list: Bennett RR, Schneider HE, Estrella E, Burgess S, Cheng AS, Barrett C, Lip V, Lai PS, Shen Y, Wu BL, Darras BT, Beggs AH, Kunkel LM
published in: BMC genetics
information resource reference: Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes. BMC Genet. 2009 Oct 18; 10:66.
journal title abbreviation: BMC Genet
publication date: 2009-10-18T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Duchenne/Becker muscular dystrophy: a short overview of the gene, the protein, and current diagnostics.
PubMed Identifier: 2688821
author list: Kunkel LM, Hoffman EP
published in: British medical bulletin
information resource reference: Duchenne/Becker muscular dystrophy: a short overview of the gene, the protein, and current diagnostics. Br Med Bull. 1989 Jul; 45(3):630-43.
journal title abbreviation: Br Med Bull
publication date: 1989-07-01T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.
PubMed Identifier: 21708040
author list: Boyden SE, Duncan AR, Estrella EA, Lidov HG, Mahoney LJ, Katz JS, Kunkel LM, Kang PB
published in: BMC medical genetics
information resource reference: Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE. BMC Med Genet. 2011 Jun 28; 12:87.
journal title abbreviation: BMC Med Genet
publication date: 2011-06-28T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.
PubMed Identifier: 2991893
author list: Kunkel LM, Monaco AP, Middlesworth W, Ochs HD, Latt SA
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Proc Natl Acad Sci U S A. 1985 Jul; 82(14):4778-82.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1985-07-01T00:00:00
year: 1985
type: Academic Article
type: Article
type: Document
type: Information Resource

Proteolytic fragment or new gene product?
PubMed Identifier: 3057381
author list: Hoffman EP, Kunkel LM, Brown RH
published in: Nature
information resource reference: Proteolytic fragment or new gene product? Nature. 1988 Nov 17; 336(6196):210.
journal title abbreviation: Nature
publication date: 1988-11-17T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Localization of the McLeod locus (XK) within Xp21 by deletion analysis.
PubMed Identifier: 3358422
author list: Bertelson CJ, Pogo AO, Chaudhuri A, Marsh WL, Redman CM, Banerjee D, Symmans WA, Simon T, Frey D, Kunkel LM
published in: American journal of human genetics
information resource reference: Localization of the McLeod locus (XK) within Xp21 by deletion analysis. Am J Hum Genet. 1988 May; 42(5):703-11.
journal title abbreviation: Am J Hum Genet
publication date: 1988-05-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Dp140: a novel 140 kDa CNS transcript from the dystrophin locus.
PubMed Identifier: 7795584
author list: Lidov HG, Selig S, Kunkel LM
published in: Human molecular genetics
information resource reference: Dp140: a novel 140 kDa CNS transcript from the dystrophin locus. Hum Mol Genet. 1995 Mar; 4(3):329-35.
journal title abbreviation: Hum Mol Genet
publication date: 1995-03-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

The dilemma of manifesting carriers in the context of myoblast transplantation.
PubMed Identifier: 2248149
author list: Kunkel LM
published in: Advances in experimental medicine and biology
information resource reference: The dilemma of manifesting carriers in the context of myoblast transplantation. Adv Exp Med Biol. 1990; 280:285-6.
journal title abbreviation: Adv Exp Med Biol
publication date: 1990-01-01T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

Synemin expression in brain.
PubMed Identifier: 17654553
author list: Mizuno Y, Guyon JR, Okamoto K, Kunkel LM
published in: Muscle & nerve
information resource reference: Synemin expression in brain. Muscle Nerve. 2007 Oct; 36(4):497-504.
journal title abbreviation: Muscle Nerve
publication date: 2007-10-01T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Congenital myasthenic syndrome with episodic apnea.
PubMed Identifier: 19520274
author list: Mallory LA, Shaw JG, Burgess SL, Estrella E, Nurko S, Burpee TM, Agus MS, Darras BT, Kunkel LM, Kang PB
published in: Pediatric neurology
information resource reference: Congenital myasthenic syndrome with episodic apnea. Pediatr Neurol. 2009 Jul; 41(1):42-5.
journal title abbreviation: Pediatr Neurol
publication date: 2009-07-01T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

CXCR4 enhances engraftment of muscle progenitor cells.
PubMed Identifier: 19760789
author list: Perez AL, Bachrach E, Illigens BM, Jun SJ, Bagden E, Steffen L, Flint A, McGowan FX, Del Nido P, Montecino-Rodriguez E, Tidball JG, Kunkel LM
published in: Muscle & nerve
information resource reference: CXCR4 enhances engraftment of muscle progenitor cells. Muscle Nerve. 2009 Oct; 40(4):562-72.
journal title abbreviation: Muscle Nerve
publication date: 2009-10-01T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

High-density genomewide linkage analysis of exceptional human longevity identifies multiple novel loci.
PubMed Identifier: 20824210
author list: Boyden SE, Kunkel LM
published in: PloS one
information resource reference: High-density genomewide linkage analysis of exceptional human longevity identifies multiple novel loci. PLoS One. 2010 Aug 31; 5(8):e12432.
journal title abbreviation: PLoS One
publication date: 2010-08-31T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders.
PubMed Identifier: 23227143
author list: Kong SW, Collins CD, Shimizu-Motohashi Y, Holm IA, Campbell MG, Lee IH, Brewster SJ, Hanson E, Harris HK, Lowe KR, Saada A, Mora A, Madison K, Hundley R, Egan J, McCarthy J, Eran A, Galdzicki M, Rappaport L, Kunkel LM, Kohane IS
published in: PloS one
information resource reference: Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders. PLoS One. 2012; 7(12):e49475.
journal title abbreviation: PLoS One
publication date: 2012-12-05T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Demystifying SP cell purification: viability, yield, and phenotype are defined by isolation parameters.
PubMed Identifier: 15242769
author list: Montanaro F, Liadaki K, Schienda J, Flint A, Gussoni E, Kunkel LM
published in: Experimental cell research
information resource reference: Demystifying SP cell purification: viability, yield, and phenotype are defined by isolation parameters. Exp Cell Res. 2004 Aug 01; 298(1):144-54.
journal title abbreviation: Exp Cell Res
publication date: 2004-08-01T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Effects of RAS on the genesis of embryonal rhabdomyosarcoma.
PubMed Identifier: 17510286
author list: Langenau DM, Keefe MD, Storer NY, Guyon JR, Kutok JL, Le X, Goessling W, Neuberg DS, Kunkel LM, Zon LI
published in: Genes & development
information resource reference: Effects of RAS on the genesis of embryonal rhabdomyosarcoma. Genes Dev. 2007 Jun 01; 21(11):1382-95.
journal title abbreviation: Genes Dev
publication date: 2007-05-17T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Distinctive patterns of microRNA expression in primary muscular disorders.
PubMed Identifier: 17942673
author list: Eisenberg I, Eran A, Nishino I, Moggio M, Lamperti C, Amato AA, Lidov HG, Kang PB, North KN, Mitrani-Rosenbaum S, Flanigan KM, Neely LA, Whitney D, Beggs AH, Kohane IS, Kunkel LM
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Distinctive patterns of microRNA expression in primary muscular disorders. Proc Natl Acad Sci U S A. 2007 Oct 23; 104(43):17016-21.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2007-10-17T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutations in the caveolin-3 gene: When are they pathogenic?
PubMed Identifier: 11251997
author list: de Paula F, Vainzof M, Bernardino AL, McNally E, Kunkel LM, Zatz M
published in: American journal of medical genetics
information resource reference: Mutations in the caveolin-3 gene: When are they pathogenic? Am J Med Genet. 2001 Apr 01; 99(4):303-7.
journal title abbreviation: Am J Med Genet
publication date: 2001-04-01T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Six-hour versus 12-hour protocols for AMI: CK-MB in conjunction with myoglobin.
PubMed Identifier: 11326340
author list: Esses D, Gallagher EJ, Iannaccone R, Bijur P, Srinivas VS, Rose H, Kunkel L, Sokolof J
published in: The American journal of emergency medicine
information resource reference: Six-hour versus 12-hour protocols for AMI: CK-MB in conjunction with myoglobin. Am J Emerg Med. 2001 May; 19(3):182-6.
journal title abbreviation: Am J Emerg Med
publication date: 2001-05-01T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle.
PubMed Identifier: 12415109
author list: Haslett JN, Sanoudou D, Kho AT, Bennett RR, Greenberg SA, Kohane IS, Beggs AH, Kunkel LM
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle. Proc Natl Acad Sci U S A. 2002 Nov 12; 99(23):15000-5.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2002-11-01T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle.
PubMed Identifier: 12677001
author list: Sanoudou D, Haslett JN, Kho AT, Guo S, Gazda HT, Greenberg SA, Lidov HG, Kohane IS, Kunkel LM, Beggs AH
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle. Proc Natl Acad Sci U S A. 2003 Apr 15; 100(8):4666-71.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2003-04-03T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular studies of progressive muscular dystrophy (Duchenne).
PubMed Identifier: 3440453
author list: Kunkel LM, Monaco AP, Hoffman E, Koenig M, Feener C, Bertelson C
published in: Enzyme
information resource reference: Molecular studies of progressive muscular dystrophy (Duchenne). Enzyme. 1987; 38(1-4):72-5.
journal title abbreviation: Enzyme
publication date: 1987-01-01T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1075979
type: Authorship
author rank in publication: 8
linked author: Kunkel, Louis
linked information resource: An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish.

An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish.
PubMed Identifier: 29944715
author list: Widrick JJ, Gibbs DE, Sanchez B, Gupta VA, Pakula A, Lawrence C, Beggs AH, Kunkel LM
published in: PloS one
information resource reference: An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish. PLoS One. 2018; 13(6):e0199712.
journal title abbreviation: PLoS One
publication date: 2018-06-26T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.
PubMed Identifier: 7481775
author list: Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bönnemann CG, Gussoni E, Denton PH, Kyriakides T, Middleton L, Hentati F, Ben Hamida M, Nonaka I, Vance JM, Kunkel LM, Ozawa E
published in: Science (New York, N.Y.)
information resource reference: Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science. 1995 Nov 03; 270(5237):819-22.
journal title abbreviation: Science
publication date: 1995-11-03T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Conservation of the Duchenne muscular dystrophy gene in mice and humans.
PubMed Identifier: 3659917
author list: Hoffman EP, Monaco AP, Feener CC, Kunkel LM
published in: Science (New York, N.Y.)
information resource reference: Conservation of the Duchenne muscular dystrophy gene in mice and humans. Science. 1987 Oct 16; 238(4825):347-50.
journal title abbreviation: Science
publication date: 1987-10-16T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

Isolation and transcriptome analysis of adult zebrafish cells enriched for skeletal muscle progenitors.
PubMed Identifier: 21337346
author list: Alexander MS, Kawahara G, Kho AT, Howell MH, Pusack TJ, Myers JA, Montanaro F, Zon LI, Guyon JR, Kunkel LM
published in: Muscle & nerve
information resource reference: Isolation and transcriptome analysis of adult zebrafish cells enriched for skeletal muscle progenitors. Muscle Nerve. 2011 May; 43(5):741-50.
journal title abbreviation: Muscle Nerve
publication date: 2011-02-17T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Genome gender diversity in affected sib-pairs with familial vesico-ureteric reflux identified by single nucleotide polymorphism linkage analysis.
PubMed Identifier: 21981614
author list: Marchini GS, Onal B, Guo CY, Rowe CK, Kunkel L, Bauer SB, Retik AB, Nguyen HT
published in: BJU international
information resource reference: Genome gender diversity in affected sib-pairs with familial vesico-ureteric reflux identified by single nucleotide polymorphism linkage analysis. BJU Int. 2012 Jun; 109(11):1709-14.
journal title abbreviation: BJU Int
publication date: 2011-10-07T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

ß4 integrin marks interstitial myogenic progenitor cells in adult murine skeletal muscle.
PubMed Identifier: 22205679
author list: Liadaki K, Casar JC, Wessen M, Luth ES, Jun S, Gussoni E, Kunkel LM
published in: The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society
information resource reference: ß4 integrin marks interstitial myogenic progenitor cells in adult murine skeletal muscle. J Histochem Cytochem. 2012 Jan; 60(1):31-44.
journal title abbreviation: J Histochem Cytochem
publication date: 2012-01-01T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 107040
type: Authorship
author rank in publication: 20
linked author: Kunkel, Louis
linked information resource: Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders.

The cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy.
PubMed Identifier: 23671309
author list: Rahimov F, Kunkel LM
published in: The Journal of cell biology
information resource reference: The cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy. J Cell Biol. 2013 May 13; 201(4):499-510.
journal title abbreviation: J Cell Biol
publication date: 2013-05-13T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility.
PubMed Identifier: 2407739
author list: Koenig M, Kunkel LM
published in: The Journal of biological chemistry
information resource reference: Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility. J Biol Chem. 1990 Mar 15; 265(8):4560-6.
journal title abbreviation: J Biol Chem
publication date: 1990-03-15T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

miRNAS in normal and diseased skeletal muscle.
PubMed Identifier: 19175696
author list: Eisenberg I, Alexander MS, Kunkel LM
published in: Journal of cellular and molecular medicine
information resource reference: miRNAS in normal and diseased skeletal muscle. J Cell Mol Med. 2009 Jan; 13(1):2-11.
journal title abbreviation: J Cell Mol Med
publication date: 2009-01-01T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies.
PubMed Identifier: 21296866
author list: Gupta V, Kawahara G, Gundry SR, Chen AT, Lencer WI, Zhou Y, Zon LI, Kunkel LM, Beggs AH
published in: Human molecular genetics
information resource reference: The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies. Hum Mol Genet. 2011 May 01; 20(9):1712-25.
journal title abbreviation: Hum Mol Genet
publication date: 2011-02-04T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Regional localization of the murine Duchenne muscular dystrophy gene on the mouse X chromosome.
PubMed Identifier: 2890215
author list: Chamberlain JS, Grant SG, Reeves AA, Mullins LJ, Stephenson DA, Hoffman EP, Monaco AP, Kunkel LM, Caskey CT, Chapman VM
published in: Somatic cell and molecular genetics
information resource reference: Regional localization of the murine Duchenne muscular dystrophy gene on the mouse X chromosome. Somat Cell Mol Genet. 1987 Nov; 13(6):671-8.
journal title abbreviation: Somat Cell Mol Genet
publication date: 1987-11-01T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

Immunoelectron microscopic localization of dystrophin in myofibres.
PubMed Identifier: 3290684
author list: Watkins SC, Hoffman EP, Slayter HS, Kunkel LM
published in: Nature
information resource reference: Immunoelectron microscopic localization of dystrophin in myofibres. Nature. 1988 Jun 30; 333(6176):863-6.
journal title abbreviation: Nature
publication date: 1988-06-30T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

A strategy to reveal high-frequency RFLPs along the human X chromosome.
PubMed Identifier: 6328976
author list: Aldridge J, Kunkel L, Bruns G, Tantravahi U, Lalande M, Brewster T, Moreau E, Wilson M, Bromley W, Roderick T
published in: American journal of human genetics
information resource reference: A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet. 1984 May; 36(3):546-64.
journal title abbreviation: Am J Hum Genet
publication date: 1984-05-01T00:00:00
year: 1984
type: Academic Article
type: Article
type: Document
type: Information Resource

a-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by a-actinin-3 revealing functional differences between sarcomeric isoforms.
PubMed Identifier: 22253474
author list: Gupta V, Discenza M, Guyon JR, Kunkel LM, Beggs AH
published in: FASEB journal : official publication of the Federation of American Societies for Experimental Biology
information resource reference: a-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by a-actinin-3 revealing functional differences between sarcomeric isoforms. FASEB J. 2012 May; 26(5):1892-908.
journal title abbreviation: FASEB J
publication date: 2012-01-17T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1090455
type: Authorship
author rank in publication: 17
linked author: Kunkel, Louis
linked information resource: The impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.

The impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
PubMed Identifier: 30169133
author list: Saha M, Reddy HM, Salih M, Estrella E, Jones MD, Mitsuhashi S, Cho KA, Suzuki-Hatano S, Rizzo SA, Hamad MH, Mukhtar MM, Hamed AA, Elseed MA, Lek M, Valkanas E, MacArthur DG, Kunkel LM, Pacak CA, Draper I, Kang PB
published in: Physiological genomics
information resource reference: The impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. Physiol Genomics. 2018 08 31.
journal title abbreviation: Physiol Genomics
publication date: 2018-08-31T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

A small deletion in the Duchenne/Becker muscular dystrophy locus--a functionally important region?
PubMed Identifier: 3040577
author list: Hart KA, Monaco AP, Kunkel LM, Bobrow M
published in: Human genetics
information resource reference: A small deletion in the Duchenne/Becker muscular dystrophy locus--a functionally important region? Hum Genet. 1987 Sep; 77(1):88-91.
journal title abbreviation: Hum Genet
publication date: 1987-09-01T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene.
PubMed Identifier: 7731968
author list: Selig S, Bruno S, Scharf JM, Wang CH, Vitale E, Gilliam TC, Kunkel LM
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene. Proc Natl Acad Sci U S A. 1995 Apr 25; 92(9):3702-6.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1995-04-25T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24.
PubMed Identifier: 8183929
author list: Ahn AH, Yoshida M, Anderson MS, Feener CA, Selig S, Hagiwara Y, Ozawa E, Kunkel LM
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24. Proc Natl Acad Sci U S A. 1994 May 10; 91(10):4446-50.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1994-05-10T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

Detection of a specific isoform of alpha-actinin with antisera directed against dystrophin.
PubMed Identifier: 2645301
author list: Hoffman EP, Watkins SC, Slayter HS, Kunkel LM
published in: The Journal of cell biology
information resource reference: Detection of a specific isoform of alpha-actinin with antisera directed against dystrophin. J Cell Biol. 1989 Feb; 108(2):503-10.
journal title abbreviation: J Cell Biol
publication date: 1989-02-01T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.
PubMed Identifier: 20623375
author list: Boyden SE, Salih MA, Duncan AR, White AJ, Estrella EA, Burgess SL, Seidahmed MZ, Al-Jarallah AS, Alkhalidi HM, Al-Maneea WM, Bennett RR, Alshemmari SH, Kunkel LM, Kang PB
published in: Neurogenetics
information resource reference: Efficient identification of novel mutations in patients with limb girdle muscular dystrophy. Neurogenetics. 2010 Oct; 11(4):449-55.
journal title abbreviation: Neurogenetics
publication date: 2010-07-13T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Regulation of DMD pathology by an ankyrin-encoded miRNA.
PubMed Identifier: 21824387
author list: Alexander MS, Casar JC, Motohashi N, Myers JA, Eisenberg I, Gonzalez RT, Estrella EA, Kang PB, Kawahara G, Kunkel LM
published in: Skeletal muscle
information resource reference: Regulation of DMD pathology by an ankyrin-encoded miRNA. Skelet Muscle. 2011 Aug 08; 1:27.
journal title abbreviation: Skelet Muscle
publication date: 2011-08-08T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Characterization of zebrafish dysferlin by morpholino knockdown.
PubMed Identifier: 21893049
author list: Kawahara G, Serafini PR, Myers JA, Alexander MS, Kunkel LM
published in: Biochemical and biophysical research communications
information resource reference: Characterization of zebrafish dysferlin by morpholino knockdown. Biochem Biophys Res Commun. 2011 Sep 23; 413(2):358-63.
journal title abbreviation: Biochem Biophys Res Commun
publication date: 2011-08-27T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
PubMed Identifier: 22371254
author list: Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, Beggs AH, Kunkel LM, Kang PB
published in: Neurogenetics
information resource reference: Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics. 2012 May; 13(2):115-24.
journal title abbreviation: Neurogenetics
publication date: 2012-02-28T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

A splice site mutation in laminin-a2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.
PubMed Identifier: 22952766
author list: Gupta VA, Kawahara G, Myers JA, Chen AT, Hall TE, Manzini MC, Currie PD, Zhou Y, Zon LI, Kunkel LM, Beggs AH
published in: PloS one
information resource reference: A splice site mutation in laminin-a2 results in a severe muscular dystrophy and growth abnormalities in zebrafish. PLoS One. 2012; 7(8):e43794.
journal title abbreviation: PLoS One
publication date: 2012-08-27T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Expression of synemin in the mouse spinal cord.
PubMed Identifier: 19229966
author list: Mizuno Y, Guyon JR, Okamoto K, Kunkel LM
published in: Muscle & nerve
information resource reference: Expression of synemin in the mouse spinal cord. Muscle Nerve. 2009 May; 39(5):634-41.
journal title abbreviation: Muscle Nerve
publication date: 2009-05-01T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1093431
type: Authorship
author rank in publication: 12
linked author: Kunkel, Louis
linked information resource: A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies.

A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies.
PubMed Identifier: 30232282
author list: Serafini PR, Feyder MJ, Hightower RM, Garcia-Perez D, Vieira NM, Lek A, Gibbs DE, Moukha-Chafiq O, Augelli-Szafran CE, Kawahara G, Widrick JJ, Kunkel LM, Alexander MS
published in: JCI insight
information resource reference: A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies. JCI Insight. 2018 09 20; 3(18).
journal title abbreviation: JCI Insight
publication date: 2018-09-20T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Drug screening in a zebrafish model of Duchenne muscular dystrophy.
PubMed Identifier: 21402949
author list: Kawahara G, Karpf JA, Myers JA, Alexander MS, Guyon JR, Kunkel LM
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Drug screening in a zebrafish model of Duchenne muscular dystrophy. Proc Natl Acad Sci U S A. 2011 Mar 29; 108(13):5331-6.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2011-03-14T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Cloning of the Duchenne/Becker muscular dystrophy locus.
PubMed Identifier: 3055851
author list: Monaco AP, Kunkel LM
published in: Advances in human genetics
information resource reference: Cloning of the Duchenne/Becker muscular dystrophy locus. Adv Hum Genet. 1988; 17:61-98.
journal title abbreviation: Adv Hum Genet
publication date: 1988-01-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Identification of a C6-G21 translocation chromosome by the Q-M and Giemsa banding techniques in a patient with Down's syndrome, with possible assignment of Gm locus.
PubMed Identifier: 4120631
author list: Borgaonkar DS, Bias WB, Chase GA, Sadasivan G, Herr HM, Golomb HM, Bahr GF, Kunkel LM
published in: Clinical genetics
information resource reference: Identification of a C6-G21 translocation chromosome by the Q-M and Giemsa banding techniques in a patient with Down's syndrome, with possible assignment of Gm locus. Clin Genet. 1973; 4(1):53-7.
journal title abbreviation: Clin Genet
publication date: 1973-01-01T00:00:00
year: 1973
type: Academic Article
type: Article
type: Document
type: Information Resource

Novel actin crosslinker superfamily member identified by a two step degenerate PCR procedure.
PubMed Identifier: 7635207
author list: Byers TJ, Beggs AH, McNally EM, Kunkel LM
published in: FEBS letters
information resource reference: Novel actin crosslinker superfamily member identified by a two step degenerate PCR procedure. FEBS Lett. 1995 Jul 24; 368(3):500-4.
journal title abbreviation: FEBS Lett
publication date: 1995-07-24T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives.
PubMed Identifier: 8576247
author list: Ahn AH, Freener CA, Gussoni E, Yoshida M, Ozawa E, Kunkel LM
published in: The Journal of biological chemistry
information resource reference: The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives. J Biol Chem. 1996 Feb 02; 271(5):2724-30.
journal title abbreviation: J Biol Chem
publication date: 1996-02-02T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 125171
type: Authorship
author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families.

Beta-synemin expression in cardiotoxin-injected rat skeletal muscle.
PubMed Identifier: 17493272
author list: Mizuno Y, Guyon JR, Ishii A, Hoshino S, Ohkoshi N, Tamaoka A, Okamoto K, Kunkel LM
published in: BMC musculoskeletal disorders
information resource reference: Beta-synemin expression in cardiotoxin-injected rat skeletal muscle. BMC Musculoskelet Disord. 2007 May 10; 8:40.
journal title abbreviation: BMC Musculoskelet Disord
publication date: 2007-05-10T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Dystrophin: the protein product of the Duchenne muscular dystrophy locus.
PubMed Identifier: 3319190
author list: Hoffman EP, Brown RH, Kunkel LM
published in: Cell
information resource reference: Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987 Dec 24; 51(6):919-28.
journal title abbreviation: Cell
publication date: 1987-12-24T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis.
PubMed Identifier: 30307508
author list: Pakula A, Lek A, Widrick J, Mitsuhashi H, Bugda Gwilt KM, Gupta VA, Rahimov F, Criscione J, Zhang Y, Gibbs D, Murphy Q, Manglik A, Mead L, Kunkel L
published in: Human molecular genetics
information resource reference: Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis. Hum Mol Genet. 2019 01 15; 28(2):320-331.
journal title abbreviation: Hum Mol Genet
publication date: 2019-01-15T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1099151
type: Authorship
author rank in publication: 14
linked author: Kunkel, Louis
linked information resource: Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis.

Authorship 113523
type: Authorship
author rank in publication: 1
linked author: Kunkel, Louis
linked information resource: The Wellcome lecture, 1988. Muscular dystrophy: a time of hope.

Authorship 1107957
type: Authorship
author rank in publication: 17
linked author: Kunkel, Louis
linked information resource: Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.

Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
PubMed Identifier: 30345904
author list: Saha M, Reddy HM, Salih MA, Estrella E, Jones MD, Mitsuhashi S, Cho KA, Suzuki-Hatano S, Rizzo SA, Hamad MH, Mukhtar MM, Hamed AA, Elseed MA, Lek M, Valkanas E, MacArthur DG, Kunkel LM, Pacak CA, Draper I, Kang PB
published in: Physiological genomics
information resource reference: Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. Physiol Genomics. 2018 11 01; 50(11):929-939.
journal title abbreviation: Physiol Genomics
publication date: 2018-08-31T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Accurate and superaccurate gene mapping.
PubMed Identifier: 2931976
author list: Lange K, Kunkel L, Aldridge J, Latt SA
published in: American journal of human genetics
information resource reference: Accurate and superaccurate gene mapping. Am J Hum Genet. 1985 Sep; 37(5):853-67.
journal title abbreviation: Am J Hum Genet
publication date: 1985-09-01T00:00:00
year: 1985
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 120350
type: Authorship
author rank in publication: 8
linked author: Kunkel, Louis
linked information resource: Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle.

The molecular and biochemical basis of Duchenne muscular dystrophy.
PubMed Identifier: 1412702
author list: Anderson MS, Kunkel LM
published in: Trends in biochemical sciences
information resource reference: The molecular and biochemical basis of Duchenne muscular dystrophy. Trends Biochem Sci. 1992 Aug; 17(8):289-92.
journal title abbreviation: Trends Biochem Sci
publication date: 1992-08-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Cell and fiber-type distribution of dystrophin.
PubMed Identifier: 3078411
author list: Hoffman EP, Hudecki MS, Rosenberg PA, Pollina CM, Kunkel LM
published in: Neuron
information resource reference: Cell and fiber-type distribution of dystrophin. Neuron. 1988 Jul; 1(5):411-20.
journal title abbreviation: Neuron
publication date: 1988-07-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 111387
type: Authorship
author rank in publication: 7
linked author: Kunkel, Louis
linked information resource: Expression profiling and identification of novel genes involved in myogenic differentiation.

Authorship 111940
type: Authorship
author rank in publication: 11
linked author: Kunkel, Louis
linked information resource: Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).

Authorship 131792
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: Dystrophin and its isoforms.

Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin.
PubMed Identifier: 7668821
author list: Ljunggren A, Duggan D, McNally E, Boylan KB, Gama CH, Kunkel LM, Hoffman EP
published in: Annals of neurology
information resource reference: Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin. Ann Neurol. 1995 Sep; 38(3):367-72.
journal title abbreviation: Ann Neurol
publication date: 1995-09-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

The structural and functional diversity of dystrophin.
PubMed Identifier: 7981747
author list: Ahn AH, Kunkel LM
published in: Nature genetics
information resource reference: The structural and functional diversity of dystrophin. Nat Genet. 1993 Apr; 3(4):283-91.
journal title abbreviation: Nat Genet
publication date: 1993-04-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Analysis of human sarcospan as a candidate gene for CFEOM1.
PubMed Identifier: 11180757
author list: O'Brien KF, Engle EC, Kunkel LM
published in: BMC genetics
information resource reference: Analysis of human sarcospan as a candidate gene for CFEOM1. BMC Genet. 2001; 2:3.
journal title abbreviation: BMC Genet
publication date: 2001-02-06T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 130950
type: Authorship
author rank in publication: 5
linked author: Kunkel, Louis
linked information resource: Molecular characterization of Br-cadherin, a developmentally regulated, brain-specific cadherin.

Molecular profiles of inflammatory myopathies.
PubMed Identifier: 12391344
author list: Greenberg SA, Sanoudou D, Haslett JN, Kohane IS, Kunkel LM, Beggs AH, Amato AA
published in: Neurology
information resource reference: Molecular profiles of inflammatory myopathies. Neurology. 2002 Oct 22; 59(8):1170-82.
journal title abbreviation: Neurology
publication date: 2002-10-22T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Transcriptome-scale similarities between mouse and human skeletal muscles with normal and myopathic phenotypes.
PubMed Identifier: 16522209
author list: Kho AT, Kang PB, Kohane IS, Kunkel LM
published in: BMC musculoskeletal disorders
information resource reference: Transcriptome-scale similarities between mouse and human skeletal muscles with normal and myopathic phenotypes. BMC Musculoskelet Disord. 2006 Mar 07; 7:23.
journal title abbreviation: BMC Musculoskelet Disord
publication date: 2006-03-07T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

An alternative dystrophin transcript specific to peripheral nerve.
PubMed Identifier: 8513330
author list: Byers TJ, Lidov HG, Kunkel LM
published in: Nature genetics
information resource reference: An alternative dystrophin transcript specific to peripheral nerve. Nat Genet. 1993 May; 4(1):77-81.
journal title abbreviation: Nat Genet
publication date: 1993-05-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure.
PubMed Identifier: 16914736
author list: Dalkilic I, Schienda J, Thompson TG, Kunkel LM
published in: Molecular and cellular biology
information resource reference: Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure. Mol Cell Biol. 2006 Sep; 26(17):6522-34.
journal title abbreviation: Mol Cell Biol
publication date: 2006-09-01T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Syntrophin binds to an alternatively spliced exon of dystrophin.
PubMed Identifier: 7844150
author list: Ahn AH, Kunkel LM
published in: The Journal of cell biology
information resource reference: Syntrophin binds to an alternatively spliced exon of dystrophin. J Cell Biol. 1995 Feb; 128(3):363-71.
journal title abbreviation: J Cell Biol
publication date: 1995-02-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Expression and cytokine regulation of glucocorticoid receptors in Kaposi's sarcoma.
PubMed Identifier: 8669484
author list: Guo WX, Antakly T, Cadotte M, Kachra Z, Kunkel L, Masood R, Gill P
published in: The American journal of pathology
information resource reference: Expression and cytokine regulation of glucocorticoid receptors in Kaposi's sarcoma. Am J Pathol. 1996 Jun; 148(6):1999-2008.
journal title abbreviation: Am J Pathol
publication date: 1996-06-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Medicine. Reestablishing the researcher-patient compact.
PubMed Identifier: 17495156
author list: Kohane IS, Mandl KD, Taylor PL, Holm IA, Nigrin DJ, Kunkel LM
published in: Science (New York, N.Y.)
information resource reference: Medicine. Reestablishing the researcher-patient compact. Science. 2007 May 11; 316(5826):836-7.
journal title abbreviation: Science
publication date: 2007-05-11T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

DNA deletion in boy with Becker muscular dystrophy.
PubMed Identifier: 2870387
author list: Hodgson S, Hart K, Walker A, Cole C, Johnson L, Bobrow M, Dubowitz V, Kunkel L
published in: Lancet (London, England)
information resource reference: DNA deletion in boy with Becker muscular dystrophy. Lancet. 1986 Apr 19; 1(8486):918.
journal title abbreviation: Lancet
publication date: 1986-04-19T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy.
PubMed Identifier: 2881877
author list: Monaco AP, Bertelson CJ, Colletti-Feener C, Kunkel LM
published in: Human genetics
information resource reference: Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy. Hum Genet. 1987 Mar; 75(3):221-7.
journal title abbreviation: Hum Genet
publication date: 1987-03-01T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

Genetic mapping of the Wiskott-Aldrich syndrome with two highly-linked polymorphic DNA markers.
PubMed Identifier: 2906042
author list: Kwan SP, Sandkuyl LA, Blaese M, Kunkel LM, Bruns G, Parmley R, Skarshaug S, Page DC, Ott J, Rosen FS
published in: Genomics
information resource reference: Genetic mapping of the Wiskott-Aldrich syndrome with two highly-linked polymorphic DNA markers. Genomics. 1988 Jul; 3(1):39-43.
journal title abbreviation: Genomics
publication date: 1988-07-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers.
PubMed Identifier: 22988124
author list: Rahimov F, King OD, Leung DG, Bibat GM, Emerson CP, Kunkel LM, Wagner KR
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers. Proc Natl Acad Sci U S A. 2012 Oct 02; 109(40):16234-9.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2012-09-17T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Evidence for the association of dystrophin with the transverse tubular system in skeletal muscle.
PubMed Identifier: 3286650
author list: Knudson CM, Hoffman EP, Kahl SD, Kunkel LM, Campbell KP
published in: The Journal of biological chemistry
information resource reference: Evidence for the association of dystrophin with the transverse tubular system in skeletal muscle. J Biol Chem. 1988 Jun 15; 263(17):8480-4.
journal title abbreviation: J Biol Chem
publication date: 1988-06-15T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.
PubMed Identifier: 3384440
author list: Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM
published in: Genomics
information resource reference: An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics. 1988 Jan; 2(1):90-5.
journal title abbreviation: Genomics
publication date: 1988-01-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Expression of the Duchenne's muscular dystrophy gene in cultured muscle cells.
PubMed Identifier: 3680227
author list: Lev AA, Feener CC, Kunkel LM, Brown RH
published in: The Journal of biological chemistry
information resource reference: Expression of the Duchenne's muscular dystrophy gene in cultured muscle cells. J Biol Chem. 1987 Nov 25; 262(33):15817-20.
journal title abbreviation: J Biol Chem
publication date: 1987-11-25T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

Interaction of chromosome-6-encoded dystrophin related protein with the extracellular matrix.
PubMed Identifier: 7738095
author list: Khurana TS, Kunkel LM, Frederickson AD, Carbonetto S, Watkins SC
published in: Journal of cell science
information resource reference: Interaction of chromosome-6-encoded dystrophin related protein with the extracellular matrix. J Cell Sci. 1995 Jan; 108 ( Pt 1):173-85.
journal title abbreviation: J Cell Sci
publication date: 1995-01-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy.
PubMed Identifier: 8923014
author list: McNally EM, Duggan D, Gorospe JR, Bönnemann CG, Fanin M, Pegoraro E, Lidov HG, Noguchi S, Ozawa E, Finkel RS, Cruse RP, Angelini C, Kunkel LM, Hoffman EP
published in: Human molecular genetics
information resource reference: Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. Hum Mol Genet. 1996 Nov; 5(11):1841-7.
journal title abbreviation: Hum Mol Genet
publication date: 1996-11-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Beyond dystrophin: current progress in the muscular dystrophies.
PubMed Identifier: 9018440
author list: Bönnemann CG, McNally EM, Kunkel LM
published in: Current opinion in pediatrics
information resource reference: Beyond dystrophin: current progress in the muscular dystrophies. Curr Opin Pediatr. 1996 Dec; 8(6):569-82.
journal title abbreviation: Curr Opin Pediatr
publication date: 1996-12-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I.
PubMed Identifier: 1347195
author list: Laing NG, Majda BT, Akkari PA, Layton MG, Mulley JC, Phillips H, Haan EA, White SJ, Beggs AH, Kunkel LM
published in: American journal of human genetics
information resource reference: Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I. Am J Hum Genet. 1992 Mar; 50(3):576-83.
journal title abbreviation: Am J Hum Genet
publication date: 1992-03-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Dystrophin mRNA in lyophilized tissue.
PubMed Identifier: 1371597
author list: Anderson MS, Kunkel LM, Khurana TS
published in: Nature
information resource reference: Dystrophin mRNA in lyophilized tissue. Nature. 1992 Feb 27; 355(6363):778.
journal title abbreviation: Nature
publication date: 1992-02-27T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

High-dose recombinant interleukin-2 therapy in patients with metastatic melanoma: long-term survival update.
PubMed Identifier: 10685652
author list: Atkins MB, Kunkel L, Sznol M, Rosenberg SA
published in: The cancer journal from Scientific American
information resource reference: High-dose recombinant interleukin-2 therapy in patients with metastatic melanoma: long-term survival update. Cancer J Sci Am. 2000 Feb; 6 Suppl 1:S11-4.
journal title abbreviation: Cancer J Sci Am
publication date: 2000-02-01T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

A pilot study of the anti-CD20 monoclonal antibody rituximab in patients with refractory immune thrombocytopenia.
PubMed Identifier: 11226008
author list: Saleh MN, Gutheil J, Moore M, Bunch PW, Butler J, Kunkel L, Grillo-López AJ, LoBuglio AF
published in: Seminars in oncology
information resource reference: A pilot study of the anti-CD20 monoclonal antibody rituximab in patients with refractory immune thrombocytopenia. Semin Oncol. 2000 Dec; 27(6 Suppl 12):99-103.
journal title abbreviation: Semin Oncol
publication date: 2000-12-01T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

Genome-wide CRISPR screen to identify pro-myogenic factors for cell therapy of DMD
end date: 2019-08-31
principal investigator name: KUNKEL, LOUIS M
start date: 2018-09-04
type: Grant
sponsor award id: R41AR074832

Principal Investigator
type: Researcher Role
researcher role of: Kunkel, Louis
contributes to: Genome-wide CRISPR screen to identify pro-myogenic factors for cell therapy of DMD

Dystrophin is transcribed in brain from a distant upstream promoter.
PubMed Identifier: 1996328
author list: Boyce FM, Beggs AH, Feener C, Kunkel LM
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Dystrophin is transcribed in brain from a distant upstream promoter. Proc Natl Acad Sci U S A. 1991 Feb 15; 88(4):1276-80.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1991-02-15T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy.
PubMed Identifier: 2180286
author list: Richards CS, Watkins SC, Hoffman EP, Schneider NR, Milsark IW, Katz KS, Cook JD, Kunkel LM, Cortada JM
published in: American journal of human genetics
information resource reference: Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. Am J Hum Genet. 1990 Apr; 46(4):672-81.
journal title abbreviation: Am J Hum Genet
publication date: 1990-04-01T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 107892
type: Authorship
author rank in publication: 9
linked author: Kunkel, Louis
linked information resource: Exceptional familial clustering for extreme longevity in humans.

Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA.
PubMed Identifier: 2897793
author list: Darras BT, Koenig M, Kunkel LM, Francke U
published in: American journal of medical genetics
information resource reference: Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA. Am J Med Genet. 1988 Mar; 29(3):713-26.
journal title abbreviation: Am J Med Genet
publication date: 1988-03-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

The co-morbidity burden of children and young adults with autism spectrum disorders.
PubMed Identifier: 22511918
author list: Kohane IS, McMurry A, Weber G, MacFadden D, Rappaport L, Kunkel L, Bickel J, Wattanasin N, Spence S, Murphy S, Churchill S
published in: PloS one
information resource reference: The co-morbidity burden of children and young adults with autism spectrum disorders. PLoS One. 2012; 7(4):e33224.
journal title abbreviation: PLoS One
publication date: 2012-04-12T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis.
PubMed Identifier: 22798623
author list: Jones TI, Chen JC, Rahimov F, Homma S, Arashiro P, Beermann ML, King OD, Miller JB, Kunkel LM, Emerson CP, Wagner KR, Jones PL
published in: Human molecular genetics
information resource reference: Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis. Hum Mol Genet. 2012 Oct 15; 21(20):4419-30.
journal title abbreviation: Hum Mol Genet
publication date: 2012-07-13T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1129332
type: Authorship
author rank in publication: 11
linked author: Kunkel, Louis
linked information resource: Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites.

Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites.
PubMed Identifier: 30688039
author list: Bruels CC, Li C, Mendoza T, Khan J, Reddy HM, Estrella EA, Ghosh PS, Darras BT, Lidov HGW, Pacak CA, Kunkel LM, Modave F, Draper I, Kang PB
published in: Molecular genetics & genomic medicine
information resource reference: Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. Mol Genet Genomic Med. 2019 03; 7(3):e552.
journal title abbreviation: Mol Genet Genomic Med
publication date: 2019-01-28T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Muscular Dystrophy, Duchenne
MeSH DescriptorUI: D020388
MeSH semantic group name: Disorders
number of authors: 130
number of publications: 312
uniqueness weight: 0.763973
type: Concept

Muscular Dystrophy, Animal
MeSH DescriptorUI: D009137
MeSH semantic group name: Disorders
number of authors: 43
number of publications: 93
uniqueness weight: 0.948189
type: Concept

Muscular Dystrophies
MeSH DescriptorUI: D009136
MeSH semantic group name: Disorders
number of authors: 133
number of publications: 391
uniqueness weight: 0.823452
type: Concept

Authorship 114929
type: Authorship
author rank in publication: 3
linked author: Kunkel, Louis
linked information resource: The subcellular distribution of chromosome 6-encoded dystrophin-related protein in the brain.

Zebrafish
MeSH DescriptorUI: D015027
MeSH semantic group name: Living Beings
number of authors: 882
number of publications: 3047
uniqueness weight: 0.444358
type: Concept

Dystrophin
MeSH DescriptorUI: D016189
MeSH semantic group name: Chemicals & Drugs
number of authors: 101
number of publications: 297
uniqueness weight: 0.880565
type: Concept

Authorship 120749
type: Authorship
author rank in publication: 1
linked author: Kunkel, Louis
linked information resource: The dilemma of manifesting carriers in the context of myoblast transplantation.

Genetics
type: Department
type: Organization

Neurology
type: Department
type: Organization

Pathology
type: Department
type: Organization

Pediatrics
type: Department
type: Organization

Stem Cell and Regenerative Biology
type: Department
type: Organization

Nephrology
type: Division
type: Organization

Molecular Medicine
type: Division
type: Organization

Genetics
type: Division
type: Organization

Infectious Disease
type: Division
type: Organization

Pulmonary
type: Division
type: Organization

Beth Israel Deaconess Medical Center
type: Organization

Boston Children's Hospital
type: Organization

Harvard Medical School
type: Organization

Immune Disease Institute
type: Organization

Chen, Bing
eCommons Login: BC9
first name: Bing
last name: Chen
full name: Bing Chen, Ph.D.
has faculty rank: Full Professor
latitude: 42.33790000000000
longitude: -71.10590000000000
Person ID: 17396
person in primary position: Rosalind Franklin, PhD Professor of Pediatrics
type: Agent
type: Person
preferred title: Rosalind Franklin, PhD Professor of Pediatrics

Beggs, Alan
eCommons Login: AHB3
first name: Alan
last name: Beggs
full name: Alan Hendrie Beggs, Ph.D.
has faculty rank: Full Professor
latitude: 42.33743600000000
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Person ID: 55229
person in primary position: Sir Edwin and Lady Manton Professor of Pediatrics
type: Agent
type: Person
preferred title: Sir Edwin and Lady Manton Professor of Pediatrics

Kohane, Zak
eCommons Login: ISK1
first name: Zak
last name: Kohane
full name: Zak Kohane, M.D.,Ph.D.
has faculty rank: Full Professor
latitude: 42.33743600000000
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Person ID: 25477
person in primary position: Marion V. Nelson Professor of Biomedical Informatics
type: Agent
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preferred title: Marion V. Nelson Professor of Biomedical Informatics

Gussoni, Emanuela
eCommons Login: EG9
first name: Emanuela
last name: Gussoni
full name: Emanuela Gussoni, Ph.D.
has faculty rank: Associate Professor
latitude: 42.33790000000000
longitude: -71.10590000000000
Person ID: 88750
person in primary position: Associate Professor of Pediatrics
type: Agent
type: Person
preferred title: Associate Professor of Pediatrics

Lidov, Hart
eCommons Login: HGL1
first name: Hart
last name: Lidov
full name: Hart G.W. Lidov, M.D., Ph.D.
has faculty rank: Associate Professor
latitude: 42.33743600000000
longitude: -71.10544700000000
Person ID: 25033
person in primary position: Associate Professor of Pathology
type: Agent
type: Person
preferred title: Associate Professor of Pathology

Widrick, Jeffrey
eCommons Login: JJW23
first name: Jeffrey
last name: Widrick
full name: Jeffrey J Widrick, Ph.D.
has faculty rank: Assistant Professor
Person ID: 95510
person in primary position: Assistant Professor of Pediatrics
type: Agent
type: Person
preferred title: Assistant Professor of Pediatrics

Authorship 149265
type: Authorship
author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3.

Choe, Hyeryun
eCommons Login: HC3
first name: Hyeryun
last name: Choe
full name: Hyeryun Choe, Ph.D.
has faculty rank: Full Professor
latitude: 42.33790000000000
longitude: -71.10590000000000
Person ID: 24658
person in primary position: Professor of Pediatrics
type: Agent
type: Person
preferred title: Professor of Pediatrics

Frank, Markus
eCommons Login: MHF2
first name: Markus
last name: Frank
full name: Markus H. Frank, M.D.
has faculty rank: Full Professor
latitude: 42.33790000000000
longitude: -71.10590000000000
photo: https://connects.catalyst.harvard.edu/Profiles/profile/Modules/CustomViewPersonGeneralInfo/PhotoHandler.ashx
Person ID: 2316
person in primary position: Professor of Pediatrics
type: Agent
type: Person
preferred title: Professor of Pediatrics

Rutkove, Seward
eCommons Login: SBR1
first name: Seward
last name: Rutkove
full name: Seward Brian Rutkove, M.D.
has faculty rank: Full Professor
latitude: 42.34022770000000
longitude: -71.10585400000000
Person ID: 28388
person in primary position: Nancy Lurie Marks Professor of Neurology
type: Agent
type: Person
preferred title: Nancy Lurie Marks Professor of Neurology

Darras, Basil
eCommons Login: BTD1
first name: Basil
last name: Darras
full name: Basil T. Darras, M.D.
has faculty rank: Full Professor
latitude: 42.33743600000000
longitude: -71.10544700000000
Person ID: 28065
person in primary position: Professor of Neurology
type: Agent
type: Person
preferred title: Professor of Neurology

Alkuraya, Fowzan
eCommons Login: FSA2
first name: Fowzan
last name: Alkuraya
full name: Fowzan Sami Alkuraya, M.B.,B.S.
has faculty rank: Instructor
latitude: 42.33837200000000
longitude: -71.10326900000000
Person ID: 41121
person in primary position: Instructor in Pediatrics
type: Agent
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preferred title: Instructor in Pediatrics

Park, Pyong
eCommons Login: PWP1
first name: Pyong
last name: Park
full name: Pyong Woo Park, Ph.D.
has faculty rank: Full Professor
latitude: 42.33790000000000
longitude: -71.10590000000000
Person ID: 40438
person in primary position: Professor of Pediatrics
type: Agent
type: Person
preferred title: Professor of Pediatrics

selected publications
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research areas
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similar to
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predicate: similar to
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Zon, Leonard
eCommons Login: LIZ1
first name: Leonard
last name: Zon
full name: Leonard Ira Zon, M.D.
has faculty rank: Full Professor
latitude: 42.33743600000000
longitude: -71.10544700000000
Person ID: 60887
person in primary position: Professor of Stem Cell and Regenerative Biology and Grousbeck Professor of Pediatrics, Harvard Medical School
type: Agent
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preferred title: Professor of Stem Cell and Regenerative Biology and Grousbeck Professor of Pediatrics, Harvard Medical School

Authorship 1171441
type: Authorship
author rank in publication: 5
linked author: Kunkel, Louis
linked information resource: Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens.

Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens.
PubMed Identifier: 31282429
author list: Widrick JJ, Kawahara G, Alexander MS, Beggs AH, Kunkel LM
published in: Journal of neuromuscular diseases
information resource reference: Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens. J Neuromuscul Dis. 2019; 6(3):271-287.
journal title abbreviation: J Neuromuscul Dis
publication date: 2019-01-01T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 131664
type: Authorship
author rank in publication: 9
linked author: Kunkel, Louis
linked information resource: Life-long sustained mortality advantage of siblings of centenarians.

Authorship 147302
type: Authorship
author rank in publication: 4
linked author: Kunkel, Louis
linked information resource: Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy.

Authorship 140296
type: Authorship
author rank in publication: 11
linked author: Kunkel, Louis
linked information resource: Muscle engraftment of myogenic progenitor cells following intraarterial transplantation.

Authorship 145912
type: Authorship
author rank in publication: 3
linked author: Kunkel, Louis
linked information resource: Identification of a chromosome 6-encoded dystrophin-related protein.

Authorship 16383
type: Authorship
author rank in publication: 3
linked author: Kunkel, Louis
linked information resource: Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene.

Authorship 1197195
type: Authorship
author rank in publication: 13
linked author: Kunkel, Louis
linked information resource: Concordance between gene expression in peripheral whole blood and colonic tissue in children with inflammatory bowel disease.

Authorship 1197802
type: Authorship
author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: The SINE Compound KPT-350 Blocks Dystrophic Pathologies in DMD Zebrafish and Mice.

Concordance between gene expression in peripheral whole blood and colonic tissue in children with inflammatory bowel disease.
PubMed Identifier: 31618209
author list: Palmer NP, Silvester JA, Lee JJ, Beam AL, Fried I, Valtchinov VI, Rahimov F, Kong SW, Ghodoussipour S, Hood HC, Bousvaros A, Grand RJ, Kunkel LM, Kohane IS
published in: PloS one
information resource reference: Concordance between gene expression in peripheral whole blood and colonic tissue in children with inflammatory bowel disease. PLoS One. 2019; 14(10):e0222952.
journal title abbreviation: PLoS One
publication date: 2019-10-16T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

The SINE Compound KPT-350 Blocks Dystrophic Pathologies in DMD Zebrafish and Mice.
PubMed Identifier: 31628052
author list: Hightower RM, Reid AL, Gibbs DE, Wang Y, Widrick JJ, Kunkel LM, Kastenschmidt JM, Villalta SA, van Groen T, Chang H, Gornisiewicz S, Landesman Y, Tamir S, Alexander MS
published in: Molecular therapy : the journal of the American Society of Gene Therapy
information resource reference: The SINE Compound KPT-350 Blocks Dystrophic Pathologies in DMD Zebrafish and Mice. Mol Ther. 2020 01 08; 28(1):189-201.
journal title abbreviation: Mol Ther
publication date: 2019-09-03T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1200762
type: Authorship
author rank in publication: 1
linked author: Kunkel, Louis
linked information resource: Genetic analysis of Duchenne dystrophy.

Genetic analysis of Duchenne dystrophy.
PubMed Identifier: 2988292
author list: Kunkel L, Burns G, Aldrige J, Latt S
published in: Advances in experimental medicine and biology
information resource reference: Genetic analysis of Duchenne dystrophy. Adv Exp Med Biol. 1985; 182:287-94.
journal title abbreviation: Adv Exp Med Biol
publication date: 1985-01-01T00:00:00
year: 1985
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 115157
type: Authorship
author rank in publication: 10
linked author: Kunkel, Louis
linked information resource: Dystrophin analysis in idiopathic dilated cardiomyopathy.

Authorship 121907
type: Authorship
author rank in publication: 3
linked author: Kunkel, Louis
linked information resource: Beyond dystrophin: current progress in the muscular dystrophies.

Authorship 116303
type: Authorship
author rank in publication: 4
linked author: Kunkel, Louis
linked information resource: Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers.

Authorship 12700
type: Authorship
author rank in publication: 9
linked author: Kunkel, Louis
linked information resource: Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers.

Authorship 1212327
type: Authorship
author rank in publication: 1
linked author: Kunkel, Louis
linked information resource: To dystrophin and beyond: an interview with Louis Kunkel.

To dystrophin and beyond: an interview with Louis Kunkel.
PubMed Identifier: 31843755
author list: Kunkel LM
published in: Disease models & mechanisms
information resource reference: To dystrophin and beyond: an interview with Louis Kunkel. Dis Model Mech. 2019 12 12; 13(2).
journal title abbreviation: Dis Model Mech
publication date: 2019-12-12T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1231664
type: Authorship
author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: Whole-body FDG-PET imaging for staging of Hodgkin's disease and lymphoma.

Whole-body FDG-PET imaging for staging of Hodgkin's disease and lymphoma.
PubMed Identifier: 9074514
author list: Hoh CK, Glaspy J, Rosen P, Dahlbom M, Lee SJ, Kunkel L, Hawkin RA, Maddahi J, Phelps ME
published in: Journal of nuclear medicine : official publication, Society of Nuclear Medicine
information resource reference: Whole-body FDG-PET imaging for staging of Hodgkin's disease and lymphoma. J Nucl Med. 1997 Mar; 38(3):343-8.
journal title abbreviation: J Nucl Med
publication date: 1997-03-01T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1235210
type: Authorship
author rank in publication: 17
linked author: Kunkel, Louis
linked information resource: Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy.

Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy.
PubMed Identifier: 32213627
author list: Lek A, Zhang Y, Woodman KG, Huang S, DeSimone AM, Cohen J, Ho V, Conner J, Mead L, Kodani A, Pakula A, Sanjana N, King OD, Jones PL, Wagner KR, Lek M, Kunkel LM
published in: Science translational medicine
information resource reference: Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy. Sci Transl Med. 2020 03 25; 12(536).
journal title abbreviation: Sci Transl Med
publication date: 2020-03-25T00:00:00
year: 2020
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 165744
type: Authorship
author rank in publication: 4
linked author: Kunkel, Louis
linked information resource: Conservation of the Duchenne muscular dystrophy gene in mice and humans.

Authorship 144323
type: Authorship
author rank in publication: 3
linked author: Kunkel, Louis
linked information resource: In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy.

Authorship 135582
type: Authorship
author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: Modeling human muscle disease in zebrafish.

Authorship 1271416
type: Authorship
author rank in publication: 8
linked author: Kunkel, Louis
linked information resource: Effect of serotonin modulation on dystrophin-deficient zebrafish.

Effect of serotonin modulation on dystrophin-deficient zebrafish.
PubMed Identifier: 32718931
author list: Spinazzola JM, Lambert MR, Gibbs DE, Conner JR, Krikorian GL, Pareek P, Rago C, Kunkel LM
published in: Biology open
information resource reference: Effect of serotonin modulation on dystrophin-deficient zebrafish. Biol Open. 2020 08 28; 9(8).
journal title abbreviation: Biol Open
publication date: 2020-08-28T00:00:00
year: 2020
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 154537
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: Dystrophin abnormalities in Duchenne/Becker muscular dystrophy.

Authorship 144654
type: Authorship
author rank in publication: 5
linked author: Kunkel, Louis
linked information resource: Genome gender diversity in affected sib-pairs with familial vesico-ureteric reflux identified by single nucleotide polymorphism linkage analysis.

Authorship 147013
type: Authorship
author rank in publication: 4
linked author: Kunkel, Louis
linked information resource: Detection of a specific isoform of alpha-actinin with antisera directed against dystrophin.

Authorship 236885
type: Authorship
author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation.

Authorship 1307212
type: Authorship
author rank in publication: 8
linked author: Kunkel, Louis
linked information resource: PDE10A Inhibition Reduces the Manifestation of Pathology in DMD Zebrafish and Represses the Genetic Modifier PITPNA.

PDE10A Inhibition Reduces the Manifestation of Pathology in DMD Zebrafish and Represses the Genetic Modifier PITPNA.
PubMed Identifier: 33221436
author list: Lambert MR, Spinazzola JM, Widrick JJ, Pakula A, Conner JR, Chin JE, Owens JM, Kunkel LM
published in: Molecular therapy : the journal of the American Society of Gene Therapy
information resource reference: PDE10A Inhibition Reduces the Manifestation of Pathology in DMD Zebrafish and Represses the Genetic Modifier PITPNA. Mol Ther. 2021 03 03; 29(3):1086-1101.
journal title abbreviation: Mol Ther
publication date: 2020-11-20T00:00:00
year: 2020
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 197839
type: Authorship
author rank in publication: 5
linked author: Kunkel, Louis
linked information resource: Transcriptional profile of postmortem skeletal muscle.

Authorship 156898
type: Authorship
author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: Medicine. Reestablishing the researcher-patient compact.

Authorship 1332326
type: Authorship
author rank in publication: 31
linked author: Kunkel, Louis
linked information resource: POLRMT mutations impair mitochondrial transcription causing neurological disease.

POLRMT mutations impair mitochondrial transcription causing neurological disease.
PubMed Identifier: 33602924
author list: Oláhová M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stránecký V, Hartmannová H, Bleyer AJ, McBride KL, Bowden SA, Korandová Z, Pecinová A, Ropers HH, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Õunap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mrácek T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RW
published in: Nature communications
information resource reference: POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun. 2021 02 18; 12(1):1135.
journal title abbreviation: Nat Commun
publication date: 2021-02-18T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 245851
type: Authorship
author rank in publication: 8
linked author: Kunkel, Louis
linked information resource: Absence of extraocular muscle pathology in Duchenne's muscular dystrophy: role for calcium homeostasis in extraocular muscle sparing.

Authorship 221703
type: Authorship
author rank in publication: 7
linked author: Kunkel, Louis
linked information resource: Localization of dystrophin and dystrophin-related protein at the electromotor synapse and neuromuscular junction in Torpedo marmorata.

Authorship 152637
type: Authorship
author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: The co-morbidity burden of children and young adults with autism spectrum disorders.

hnRNP L is essential for myogenic differentiation and modulates myotonic dystrophy pathologies.
PubMed Identifier: 33651408
author list: Alexander MS, Hightower RM, Reid AL, Bennett AH, Iyer L, Slonim DK, Saha M, Kawahara G, Kunkel LM, Kopin AS, Gupta VA, Kang PB, Draper I
published in: Muscle & nerve
information resource reference: hnRNP L is essential for myogenic differentiation and modulates myotonic dystrophy pathologies. Muscle Nerve. 2021 06; 63(6):928-940.
journal title abbreviation: Muscle Nerve
publication date: 2021-03-22T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1335592
type: Authorship
author rank in publication: 9
linked author: Kunkel, Louis
linked information resource: hnRNP L is essential for myogenic differentiation and modulates myotonic dystrophy pathologies.

Authorship 1356043
type: Authorship
author rank in publication: 8
linked author: Kunkel, Louis
linked information resource: Effect of serotonin modulation on dystrophin-deficient zebrafish.

Effect of serotonin modulation on dystrophin-deficient zebrafish.
PubMed Identifier: 34004743
author list: Spinazzola JM, Lambert MR, Gibbs DE, Conner JR, Krikorian GL, Pareek P, Rago C, Kunkel LM
published in: Biology open
information resource reference: Effect of serotonin modulation on dystrophin-deficient zebrafish. Biol Open. 2020 Jan 01.
journal title abbreviation: Biol Open
publication date: 2020-01-01T00:00:00
year: 2020
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 184888
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: Proteolytic fragment or new gene product?

Authorship 190505
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: Dystrophin and muscular dystrophy: past, present, and future.

Authorship 172209
type: Authorship
author rank in publication: 5
linked author: Kunkel, Louis
linked information resource: Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3.

Authorship 178416
type: Authorship
author rank in publication: 8
linked author: Kunkel, Louis
linked information resource: Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile.

Authorship 188323
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: Dystrophin and Dp140 in the adult rodent kidney.

Authorship 195388
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: Improved diagnosis of Becker muscular dystrophy by dystrophin testing.

Authorship 204882
type: Authorship
author rank in publication: 5
linked author: Kunkel, Louis
linked information resource: Differential membrane localization and intermolecular associations of alpha-dystrobrevin isoforms in skeletal muscle.

Authorship 230856
type: Authorship
author rank in publication: 10
linked author: Kunkel, Louis
linked information resource: Isolation and transcriptome analysis of adult zebrafish cells enriched for skeletal muscle progenitors.

Authorship 1447599
type: Authorship
author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: Skeletal muscle-specific overexpression of miR-486 limits mammary tumor-induced skeletal muscle functional limitations.

Skeletal muscle-specific overexpression of miR-486 limits mammary tumor-induced skeletal muscle functional limitations.
PubMed Identifier: 35402076
author list: Wang R, Kumar B, Doud EH, Mosley AL, Alexander MS, Kunkel LM, Nakshatri H
published in: Molecular therapy. Nucleic acids
information resource reference: Skeletal muscle-specific overexpression of miR-486 limits mammary tumor-induced skeletal muscle functional limitations. Mol Ther Nucleic Acids. 2022 Jun 14; 28:231-248.
journal title abbreviation: Mol Ther Nucleic Acids
publication date: 2022-03-16T00:00:00
year: 2022
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 306066
type: Authorship
author rank in publication: 5
linked author: Kunkel, Louis
linked information resource: An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.

Authorship 1466427
type: Authorship
author rank in publication: 23
linked author: Kunkel, Louis
linked information resource: Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.

Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.
PubMed Identifier: 35734998
author list: Bruels CC, Littel HR, Daugherty AL, Stafki S, Estrella EA, McGaughy ES, Truong D, Badalamenti JP, Pais L, Ganesh VS, O'Donnell-Luria A, Stalker HJ, Wang Y, Collins C, Behlmann A, Lemmers RJLF, van der Maarel SM, Laine R, Ghosh PS, Darras BT, Zingariello CD, Pacak CA, Kunkel LM, Kang PB
published in: Annals of clinical and translational neurology
information resource reference: Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy. Ann Clin Transl Neurol. 2022 08; 9(8):1302-1309.
journal title abbreviation: Ann Clin Transl Neurol
publication date: 2022-06-23T00:00:00
year: 2022
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 156262
type: Authorship
author rank in publication: 4
linked author: Kunkel, Louis
linked information resource: beta-dystrobrevin, a new member of the dystrophin family. Identification, cloning, and protein associations.

Authorship 416075
type: Authorship
author rank in publication: 13
linked author: Kunkel, Louis
linked information resource: Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy.

Authorship 1478676
type: Authorship
author rank in publication: 4
linked author: Kunkel, Louis
linked information resource: Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype.

Authorship 1499743
type: Authorship
author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: Erratum: Skeletal muscle-specific overexpression of miR-486 limits mammary tumor-induced skeletal muscle functional limitations.

Erratum: Skeletal muscle-specific overexpression of miR-486 limits mammary tumor-induced skeletal muscle functional limitations.
PubMed Identifier: 36090754
author list: Wang R, Kumar B, Doud EH, Mosley AL, Alexander MS, Kunkel LM, Nakshatri H
published in: Molecular therapy. Nucleic acids
information resource reference: Erratum: Skeletal muscle-specific overexpression of miR-486 limits mammary tumor-induced skeletal muscle functional limitations. Mol Ther Nucleic Acids. 2022 Sep 13; 29:614-616.
journal title abbreviation: Mol Ther Nucleic Acids
publication date: 2022-08-20T00:00:00
year: 2022
type: Academic Article
type: Article
type: Document
type: Information Resource

Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype.
PubMed Identifier: 36041985
author list: Shelton GD, Minor KM, Vieira NM, Kunkel LM, Friedenberg SG, Cullen JN, Guo LT, Zatz M, Mickelson JR
published in: Neuromuscular disorders : NMD
information resource reference: Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype. Neuromuscul Disord. 2022 10; 32(10):836-841.
journal title abbreviation: Neuromuscul Disord
publication date: 2022-08-06T00:00:00
year: 2022
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1526717
type: Authorship
author rank in publication: 30
linked author: Kunkel, Louis
linked information resource: Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
PubMed Identifier: 36799992
author list: Nascimento A, Bruels CC, Donkervoort S, Foley AR, Codina A, Milisenda JC, Estrella EA, Li C, Pijuan J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Expósito-Escudero J, Yubero D, Martorell L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez C, Palau F, Ghosh PS, Darras BT, Jou C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB, Natera-de Benito D
published in: Acta neuropathologica
information resource reference: Variants in DTNA cause a mild, dominantly inherited muscular dystrophy. Acta Neuropathol. 2023 04; 145(4):479-496.
journal title abbreviation: Acta Neuropathol
publication date: 2023-02-17T00:00:00
year: 2023
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 17018
type: Authorship
author rank in publication: 9
linked author: Kunkel, Louis
linked information resource: Congenital myasthenic syndrome with episodic apnea.

Authorship 1532620
type: Authorship
author rank in publication: 13
linked author: Kunkel, Louis
linked information resource: Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort.

Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort.
PubMed Identifier: 36910591
author list: Estrella E, Rockowitz S, Thorne M, Smith P, Petit J, Zehnder V, Yu RN, Bauer S, Berde C, Agrawal PB, Beggs AH, Gharavi AG, Kunkel L, Brownstein CA
published in: Advanced genetics (Hoboken, N.J.)
information resource reference: Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort. Adv Genet (Hoboken). 2023 Mar; 4(1):2200013.
journal title abbreviation: Adv Genet (Hoboken)
publication date: 2022-11-27T00:00:00
year: 2022
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 186534
type: Authorship
author rank in publication: 10
linked author: Kunkel, Louis
linked information resource: Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.

Authorship 257635
type: Authorship
author rank in publication: 8
linked author: Kunkel, Louis
linked information resource: Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24.

Authorship 1563360
type: Authorship
author rank in publication: 3
linked author: Kunkel, Louis
linked information resource: Optimizing assays of zebrafish larvae swimming performance for drug discovery.

Optimizing assays of zebrafish larvae swimming performance for drug discovery.
PubMed Identifier: 37183669
author list: Widrick JJ, Lambert MR, Kunkel LM, Beggs AH
published in: Expert opinion on drug discovery
information resource reference: Optimizing assays of zebrafish larvae swimming performance for drug discovery. Expert Opin Drug Discov. 2023 06; 18(6):629-641.
journal title abbreviation: Expert Opin Drug Discov
publication date: 2023-05-15T00:00:00
year: 2023
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 230635
type: Authorship
author rank in publication: 13
linked author: Kunkel, Louis
linked information resource: Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.

Authorship 331995
type: Authorship
author rank in publication: 17
linked author: Kunkel, Louis
linked information resource: Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.

Authorship 417286
type: Authorship
author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: Comparative sequence analysis of the mouse and human Lgn1/SMA interval.

Authorship 450371
type: Authorship
author rank in publication: 10
linked author: Kunkel, Louis
linked information resource: Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker.

Authorship 513
type: Authorship
author rank in publication: 5
linked author: Kunkel, Louis
linked information resource: Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy.

Authorship 531490
type: Authorship
author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: Demystifying SP cell purification: viability, yield, and phenotype are defined by isolation parameters.

Authorship 560276
type: Authorship
author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: The mouse region syntenic for human spinal muscular atrophy lies within the Lgn1 critical interval and contains multiple copies of Naip exon 5.

Authorship 22396
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: Development and use of metaphase chromosome flow-sorting methodology to obtain recombinant phage libraries enriched for parts of the human X chromosome.

Authorship 54834
type: Authorship
author rank in publication: 10
linked author: Kunkel, Louis
linked information resource: The dystrophin associated protein complex in zebrafish.

Authorship 553542
type: Authorship
author rank in publication: 1
linked author: Kunkel, Louis
linked information resource: Construction of a human X-chromosome-enriched phage library which facilitates analysis of specific loci.

Authorship 163553
type: Authorship
author rank in publication: 11
linked author: Kunkel, Louis
linked information resource: A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions.

Nancy Lurie Marks Professor of Neurology
is primary position: true
position in department: Neurology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Nancy Lurie Marks Professor of Neurology
position in organization: Beth Israel Deaconess Medical Center

Authorship 1648439
type: Authorship
author rank in publication: 9
linked author: Kunkel, Louis
linked information resource: Corrigendium: Effects of RAS on the genesis of embryonal rhabdomyosarcoma.

Authorship 1646612
type: Authorship
author rank in publication: 3
linked author: Kunkel, Louis
linked information resource: The proportion of all point mutations which are unacceptable: an estimate based on hemoglobin amino acid and nucleotide sequences.

The proportion of all point mutations which are unacceptable: an estimate based on hemoglobin amino acid and nucleotide sequences.
PubMed Identifier: 350360
author list: Boyer SH, Scott AF, Kunkel LM, Smith KD
published in: Canadian journal of genetics and cytology. Journal canadien de genetique et de cytologie
information resource reference: The proportion of all point mutations which are unacceptable: an estimate based on hemoglobin amino acid and nucleotide sequences. Can J Genet Cytol. 1978 Mar; 20(1):111-37.
journal title abbreviation: Can J Genet Cytol
publication date: 1978-03-01T00:00:00
year: 1978
type: Academic Article
type: Article
type: Document
type: Information Resource

Corrigendium: Effects of RAS on the genesis of embryonal rhabdomyosarcoma.
PubMed Identifier: 38631822
author list: Langenau DM, Keefe MD, Storer NY, Guyon JR, Kutok JL, Le X, Goessling W, Neuberg DS, Kunkel LM, Zon LI
published in: Genes & development
information resource reference: Corrigendium: Effects of RAS on the genesis of embryonal rhabdomyosarcoma. Genes Dev. 2024 Mar 01; 38(5-6):289.
journal title abbreviation: Genes Dev
publication date: 2024-03-01T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1660275
type: Authorship
author rank in publication: 11
linked author: Kunkel, Louis
linked information resource: Effects of HMGCR deficiency on skeletal muscle development.

Effects of HMGCR deficiency on skeletal muscle development.
PubMed Identifier: 38903061
author list: Gunasekaran M, Littel HR, Wells NM, Turner J, Campos G, Venigalla S, Estrella EA, Ghosh PS, Daugherty AL, Stafki SA, Kunkel LM, Foley AR, Donkervoort S, Bönnemann CG, Toledo-Bravo de Laguna L, Nascimento A, Benito DN, Draper I, Bruels CC, Pacak CA, Kang PB
published in: bioRxiv : the preprint server for biology
information resource reference: Effects of HMGCR deficiency on skeletal muscle development. bioRxiv. 2024 May 08.
journal title abbreviation: bioRxiv
publication date: 2024-05-08T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 382564
type: Authorship
author rank in publication: 7
linked author: Kunkel, Louis
linked information resource: Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs.

Authorship 238562
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: An exploratory open-label trial of aripiprazole as an adjuvant to clozapine therapy in chronic schizophrenia.

Authorship 1670582
type: Authorship
author rank in publication: 17
linked author: Kunkel, Louis
linked information resource: Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.

Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.
PubMed Identifier: 39072769
author list: Turner J, Bruels CC, Daugherty AL, Estrella EA, Stafki S, Syeda SB, Littel HR, Pais L, Ganesh VS, Lidov HGW, Paine SML, Maddison P, Harrison RE, Straub V, Ghosh PS, Pacak CA, Kunkel LM, Draper I, Topf A, Kang PB
published in: Muscle & nerve
information resource reference: Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy. Muscle Nerve. 2024 Oct; 70(4):843-850.
journal title abbreviation: Muscle Nerve
publication date: 2024-07-28T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 253456
type: Authorship
author rank in publication: 4
linked author: Kunkel, Louis
linked information resource: ELISA quantitation of dystrophin for the diagnosis of Duchenne and Becker muscular dystrophies.

Authorship 317384
type: Authorship
author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1.

Authorship 632699
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author rank in publication: 4
linked author: Kunkel, Louis
linked information resource: Genetic mapping of the Wiskott-Aldrich syndrome with two highly-linked polymorphic DNA markers.

Authorship 635995
type: Authorship
author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: Molecular heterogeneity of translocations associated with muscular dystrophy.

Authorship 653060
type: Authorship
author rank in publication: 4
linked author: Kunkel, Louis
linked information resource: Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder.

Authorship 646969
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author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: Regulation of IRS1/Akt insulin signaling by microRNA-128a during myogenesis.

Authorship 649497
type: Authorship
author rank in publication: 13
linked author: Kunkel, Louis
linked information resource: MicroRNA-199a is induced in dystrophic muscle and affects WNT signaling, cell proliferation, and myogenic differentiation.

Authorship 665897
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author rank in publication: 10
linked author: Kunkel, Louis
linked information resource: Peripheral blood gene expression signature differentiates children with autism from unaffected siblings.

Authorship 652666
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author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: The cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy.

Molecular heterogeneity of translocations associated with muscular dystrophy.
PubMed Identifier: 3594934
author list: Boyd Y, Munro E, Ray P, Worton R, Monaco T, Kunkel L, Craig I
published in: Clinical genetics
information resource reference: Molecular heterogeneity of translocations associated with muscular dystrophy. Clin Genet. 1987 Apr; 31(4):265-72.
journal title abbreviation: Clin Genet
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Regulation of IRS1/Akt insulin signaling by microRNA-128a during myogenesis.
PubMed Identifier: 23606743
author list: Motohashi N, Alexander MS, Shimizu-Motohashi Y, Myers JA, Kawahara G, Kunkel LM
published in: Journal of cell science
information resource reference: Regulation of IRS1/Akt insulin signaling by microRNA-128a during myogenesis. J Cell Sci. 2013 Jun 15; 126(Pt 12):2678-91.
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MicroRNA-199a is induced in dystrophic muscle and affects WNT signaling, cell proliferation, and myogenic differentiation.
PubMed Identifier: 23764775
author list: Alexander MS, Kawahara G, Motohashi N, Casar JC, Eisenberg I, Myers JA, Gasperini MJ, Estrella EA, Kho AT, Mitsuhashi S, Shapiro F, Kang PB, Kunkel LM
published in: Cell death and differentiation
information resource reference: MicroRNA-199a is induced in dystrophic muscle and affects WNT signaling, cell proliferation, and myogenic differentiation. Cell Death Differ. 2013 Sep; 20(9):1194-208.
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Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder.
PubMed Identifier: 23715297
author list: Vardarajan BN, Eran A, Jung JY, Kunkel LM, Wall DP
published in: Translational psychiatry
information resource reference: Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder. Transl Psychiatry. 2013 May 28; 3:e262.
journal title abbreviation: Transl Psychiatry
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Peripheral blood gene expression signature differentiates children with autism from unaffected siblings.
PubMed Identifier: 23625158
author list: Kong SW, Shimizu-Motohashi Y, Campbell MG, Lee IH, Collins CD, Brewster SJ, Holm IA, Rappaport L, Kohane IS, Kunkel LM
published in: Neurogenetics
information resource reference: Peripheral blood gene expression signature differentiates children with autism from unaffected siblings. Neurogenetics. 2013 May; 14(2):143-52.
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Authorship 72553
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linked information resource: Identification of FLRT1, FLRT2, and FLRT3: a novel family of transmembrane leucine-rich repeat proteins.

Authorship 199626
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author rank in publication: 4
linked author: Kunkel, Louis
linked information resource: Expression of synemin in the mouse spinal cord.

Authorship 536394
type: Authorship
author rank in publication: 3
linked author: Kunkel, Louis
linked information resource: The fate of individual myoblasts after transplantation into muscles of DMD patients.

High resolution kinematic approach for quantifying impaired mobility of dystrophic zebrafish larvae.
PubMed Identifier: 39713379
author list: Widrick JJ, Lambert MR, de Souza Leite F, Jung YL, Park J, Conner JR, Lee EA, Beggs AH, Kunkel LM
published in: bioRxiv : the preprint server for biology
information resource reference: High resolution kinematic approach for quantifying impaired mobility of dystrophic zebrafish larvae. bioRxiv. 2024 Dec 09.
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Authorship 1720821
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linked author: Kunkel, Louis
linked information resource: High resolution kinematic approach for quantifying impaired mobility of dystrophic zebrafish larvae.

Authorship 1723593
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author rank in publication: 11
linked author: Kunkel, Louis
linked information resource: Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development.

Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development.
PubMed Identifier: 39823152
author list: Gunasekaran M, Littel HR, Wells NM, Turner J, Campos G, Venigalla S, Estrella EA, Ghosh PS, Daugherty AL, Stafki SA, Kunkel LM, Foley AR, Donkervoort S, Bönnemann CG, Toledo-Bravo de Laguna L, Nascimento A, Natera-de Benito D, Draper I, Bruels CC, Pacak CA, Kang PB
published in: The FEBS journal
information resource reference: Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development. FEBS J. 2025 Sep; 292(18):4854-4869.
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Authorship 216029
type: Authorship
author rank in publication: 8
linked author: Kunkel, Louis
linked information resource: Regional localization of the murine Duchenne muscular dystrophy gene on the mouse X chromosome.

Authorship 240399
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author rank in publication: 4
linked author: Kunkel, Louis
linked information resource: Dystrophin is transcribed in brain from a distant upstream promoter.

Authorship 674293
type: Authorship
author rank in publication: 12
linked author: Kunkel, Louis
linked information resource: Comparative RNA editing in autistic and neurotypical cerebella.

Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.
PubMed Identifier: 24128691
author list: Mitsuhashi S, Boyden SE, Estrella EA, Jones TI, Rahimov F, Yu TW, Darras BT, Amato AA, Folkerth RD, Jones PL, Kunkel LM, Kang PB
published in: Neuromuscular disorders : NMD
information resource reference: Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. Neuromuscul Disord. 2013 Dec; 23(12):975-80.
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type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 163959
type: Authorship
author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11.

Authorship 154814
type: Authorship
author rank in publication: 4
linked author: Kunkel, Louis
linked information resource: Minimal haplotype tagging.

Authorship 278704
type: Authorship
author rank in publication: 11
linked author: Kunkel, Louis
linked information resource: Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.

Authorship 347929
type: Authorship
author rank in publication: 4
linked author: Kunkel, Louis
linked information resource: Cloning of human microtubule-associated protein 1B and the identification of a related gene on chromosome 15.

Authorship 1729884
type: Authorship
author rank in publication: 12
linked author: Kunkel, Louis
linked information resource: Conditional Dystrophin ablation in the skeletal muscle and brain causes profound effects on muscle function, neurobehavior, and extracellular matrix pathways.

Conditional Dystrophin ablation in the skeletal muscle and brain causes profound effects on muscle function, neurobehavior, and extracellular matrix pathways.
PubMed Identifier: 39975305
author list: Karuppasamy M, English KG, Conner JR, Rorrer SN, Lopez MA, Crossman DK, Paul JR, Monreal-Gutierrez MA, Gamble KL, Esser KA, Widrick JJ, Kunkel LM, Alexander MS
published in: bioRxiv : the preprint server for biology
information resource reference: Conditional Dystrophin ablation in the skeletal muscle and brain causes profound effects on muscle function, neurobehavior, and extracellular matrix pathways. bioRxiv. 2025 Feb 09.
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Authorship 1738255
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author rank in publication: 12
linked author: Kunkel, Louis
linked information resource: Muscle-specific increased expression of JAG1 improves skeletal muscle phenotype in dystrophin-deficient mice.

Authorship 1740105
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author rank in publication: 7
linked author: Kunkel, Louis
linked information resource: Interstitial Cystitis: a phenotype and rare variant exome sequencing study: Interstitial Cystitis: a phenotype and exome sequencing study.

Interstitial Cystitis: a phenotype and rare variant exome sequencing study: Interstitial Cystitis: a phenotype and exome sequencing study.
PubMed Identifier: 40034785
author list: Motelow JE, Malakar A, Murthy SBK, Verbitsky M, Kahn A, Estrella E, Kunkel L, Wiesenhahn M, Becket J, Harris N, Lee R, Adam R, Kiryluk K, Gharavi AG, Brownstein CA
published in: medRxiv : the preprint server for health sciences
information resource reference: Interstitial Cystitis: a phenotype and rare variant exome sequencing study: Interstitial Cystitis: a phenotype and exome sequencing study. medRxiv. 2025 Feb 18.
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publication date: 2025-02-18T00:00:00
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Muscle-specific increased expression of JAG1 improves skeletal muscle phenotype in dystrophin-deficient mice.
PubMed Identifier: 40161820
author list: de Souza Leite F, Lambert MR, Zhang TY, Conner JR, Paulo JA, Oliveira SF, Thakurta S, Bowles J, Gussoni E, Gygi SP, Widrick JJ, Kunkel LM
published in: bioRxiv : the preprint server for biology
information resource reference: Muscle-specific increased expression of JAG1 improves skeletal muscle phenotype in dystrophin-deficient mice. bioRxiv. 2025 Mar 14.
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Authorship 695698
type: Authorship
author rank in publication: 11
linked author: Kunkel, Louis
linked information resource: Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.

Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling.
PubMed Identifier: 24234649
author list: Kawahara G, Gasperini MJ, Myers JA, Widrick JJ, Eran A, Serafini PR, Alexander MS, Pletcher MT, Morris CA, Kunkel LM
published in: Human molecular genetics
information resource reference: Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling. Hum Mol Genet. 2014 Apr 01; 23(7):1869-78.
journal title abbreviation: Hum Mol Genet
publication date: 2013-11-13T00:00:00
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type: Academic Article
type: Article
type: Document
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Authorship 17753
type: Authorship
author rank in publication: 3
linked author: Kunkel, Louis
linked information resource: Dp140: a novel 140 kDa CNS transcript from the dystrophin locus.

Authorship 223306
type: Authorship
author rank in publication: 4
linked author: Kunkel, Louis
linked information resource: a-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by a-actinin-3 revealing functional differences between sarcomeric isoforms.

Authorship 383866
type: Authorship
author rank in publication: 3
linked author: Kunkel, Louis
linked information resource: Additional dystrophin fragment in Becker muscular dystrophy may result from proteolytic cleavage at deletion junctions.

Authorship 226131
type: Authorship
author rank in publication: 12
linked author: Kunkel, Louis
linked information resource: Centenarians and the genetics of longevity.

Authorship 195495
type: Authorship
author rank in publication: 10
linked author: Kunkel, Louis
linked information resource: A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.

Authorship 197614
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: A polymorphic CACA repeat in the 3' untranslated region of dystrophin.

Authorship 255054
type: Authorship
author rank in publication: 13
linked author: Kunkel, Louis
linked information resource: Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle.

Human skeletal muscle xenograft as a new preclinical model for muscle disorders.
PubMed Identifier: 24452336
author list: Zhang Y, King OD, Rahimov F, Jones TI, Ward CW, Kerr JP, Liu N, Emerson CP, Kunkel LM, Partridge TA, Wagner KR
published in: Human molecular genetics
information resource reference: Human skeletal muscle xenograft as a new preclinical model for muscle disorders. Hum Mol Genet. 2014 Jun 15; 23(12):3180-8.
journal title abbreviation: Hum Mol Genet
publication date: 2014-01-22T00:00:00
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type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 254868
type: Authorship
author rank in publication: 3
linked author: Kunkel, Louis
linked information resource: Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.

Authorship 392602
type: Authorship
author rank in publication: 3
linked author: Kunkel, Louis
linked information resource: Expression of the Duchenne's muscular dystrophy gene in cultured muscle cells.

Authorship 403154
type: Authorship
author rank in publication: 5
linked author: Kunkel, Louis
linked information resource: Mutations in the caveolin-3 gene: When are they pathogenic?

Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation.
PubMed Identifier: 24687993
author list: Balasubramanian A, Kawahara G, Gupta VA, Rozkalne A, Beauvais A, Kunkel LM, Gussoni E
published in: FASEB journal : official publication of the Federation of American Societies for Experimental Biology
information resource reference: Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation. FASEB J. 2014 Jul; 28(7):2955-69.
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type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 429680
type: Authorship
author rank in publication: 9
linked author: Kunkel, Louis
linked information resource: Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein.

Missense variants in TUBA4A cause myo-tubulinopathies.
PubMed Identifier: 40666348
author list: Johari M, Folland C, Saito Y, Oud MM, Parmar JM, Töpf A, Kurbatov S, Ampleeva M, Zakharova EY, Chekmareva IA, Shirokova KS, Atiakshin D, Gardeitchik T, Kamsteeg EJ, Medici E, Kaat LD, Bruels CC, Stafki SA, Estrella EA, Littel HR, Kunkel LM, Kang PB, Osei-Owusu I, Pais L, O'Leary M, Austin-Tse C, O'Donnell-Luria A, Mangilog B, Radio FC, D'Amico A, Ciolfi A, Tartaglia M, Perrin A, Van Goethem C, Sole G, Martin-Négrier ML, Cossée M, Genetti CA, Valivullah ZM, Milic V, Kovacevic G, Kosac A, Moreno CAM, Camelo CG, Zanoteli E, Fahey MC, Beggs AH, Vissing J, Straub V, Savarese M, Tasca G, Voermans N, Laing NG, Udd B, Nishino I, Ravenscroft G
published in: medRxiv : the preprint server for health sciences
information resource reference: Missense variants in TUBA4A cause myo-tubulinopathies. medRxiv. 2025 Jun 28.
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publication date: 2025-06-28T00:00:00
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type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 715880
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: Zebrafish based small molecule screens for novel DMD drugs.

Authorship 723131
type: Authorship
author rank in publication: 9
linked author: Kunkel, Louis
linked information resource: Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis.

Authorship 711843
type: Authorship
author rank in publication: 10
linked author: Kunkel, Louis
linked information resource: Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling.

Zebrafish based small molecule screens for novel DMD drugs.
PubMed Identifier: 24050235
author list: Kawahara G, Kunkel LM
published in: Drug discovery today. Technologies
information resource reference: Zebrafish based small molecule screens for novel DMD drugs. Drug Discov Today Technol. 2013; 10(1):e91-6.
journal title abbreviation: Drug Discov Today Technol
publication date: 2013-01-01T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis.
PubMed Identifier: 24564913
author list: Kong SW, Sahin M, Collins CD, Wertz MH, Campbell MG, Leech JD, Krueger D, Bear MF, Kunkel LM, Kohane IS
published in: Molecular autism
information resource reference: Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis. Mol Autism. 2014 Feb 24; 5(1):16.
journal title abbreviation: Mol Autism
publication date: 2014-02-24T00:00:00
year: 2014
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 231940
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: The genetics of exceptional human longevity.

Authorship 237952
type: Authorship
author rank in publication: 7
linked author: Kunkel, Louis
linked information resource: (CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein.

Authorship 265054
type: Authorship
author rank in publication: 5
linked author: Kunkel, Louis
linked information resource: Expression and cytokine regulation of glucocorticoid receptors in Kaposi's sarcoma.

Authorship 89334
type: Authorship
author rank in publication: 3
linked author: Kunkel, Louis
linked information resource: Dystrophin: the protein product of the Duchenne muscular dystrophy locus.

MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms.
PubMed Identifier: 24789910
author list: Alexander MS, Casar JC, Motohashi N, Vieira NM, Eisenberg I, Marshall JL, Gasperini MJ, Lek A, Myers JA, Estrella EA, Kang PB, Shapiro F, Rahimov F, Kawahara G, Widrick JJ, Kunkel LM
published in: The Journal of clinical investigation
information resource reference: MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms. J Clin Invest. 2014 Jun; 124(6):2651-67.
journal title abbreviation: J Clin Invest
publication date: 2014-05-01T00:00:00
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type: Academic Article
type: Article
type: Document
type: Information Resource

Marion V. Nelson Professor of Biomedical Informatics
is primary position: true
position in department: Biomedical Informatics
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Marion V. Nelson Professor of Biomedical Informatics
position in organization: Harvard Medical School

Authorship 167372
type: Authorship
author rank in publication: 11
linked author: Kunkel, Louis
linked information resource: A genome-wide scan for linkage to human exceptional longevity identifies a locus on chromosome 4.

Authorship 730113
type: Authorship
author rank in publication: 9
linked author: Kunkel, Louis
linked information resource: Human skeletal muscle xenograft as a new preclinical model for muscle disorders.

Authorship 369097
type: Authorship
author rank in publication: 4
linked author: Kunkel, Louis
linked information resource: Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy.

Authorship 732436
type: Authorship
author rank in publication: 16
linked author: Kunkel, Louis
linked information resource: MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms.

Authorship 732836
type: Authorship
author rank in publication: 19
linked author: Kunkel, Louis
linked information resource: Dystrophin is a tumor suppressor in human cancers with myogenic programs.

Dystrophin is a tumor suppressor in human cancers with myogenic programs.
PubMed Identifier: 24793134
author list: Wang Y, Marino-Enriquez A, Bennett RR, Zhu M, Shen Y, Eilers G, Lee JC, Henze J, Fletcher BS, Gu Z, Fox EA, Antonescu CR, Fletcher CD, Guo X, Raut CP, Demetri GD, van de Rijn M, Ordog T, Kunkel LM, Fletcher JA
published in: Nature genetics
information resource reference: Dystrophin is a tumor suppressor in human cancers with myogenic programs. Nat Genet. 2014 Jun; 46(6):601-6.
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publication date: 2014-05-04T00:00:00
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type: Academic Article
type: Article
type: Document
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Authorship 242584
type: Authorship
author rank in publication: 4
linked author: Kunkel, Louis
linked information resource: Cross-reactive protein in Duchenne muscle.

Authorship 1772534
type: Authorship
author rank in publication: 12
linked author: Kunkel, Louis
linked information resource: High-dose recombinant interleukin 2 therapy for patients with metastatic melanoma: analysis of 270 patients treated between 1985 and 1993.

Authorship 1777934
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: DNA linkage analysis of X chromosome-linked chronic granulomatous disease.

Authorship 1772706
type: Authorship
author rank in publication: 1
linked author: Kunkel, Louis
linked information resource: Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.

Authorship 1777383
type: Authorship
author rank in publication: 36
linked author: Kunkel, Louis
linked information resource: Missense variants in TUBA4A cause myo-tubulinopathies.

Authorship 269534
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: The molecular and biochemical basis of Duchenne muscular dystrophy.

Authorship 290112
type: Authorship
author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene.

Authorship 1788811
type: Authorship
author rank in publication: 1
linked author: Kunkel, Louis
linked information resource: Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

Authorship 1813498
type: Authorship
author rank in publication: 12
linked author: Kunkel, Louis
linked information resource: Conditional Dmd ablation in muscle and brain causes profound effects on muscle function and neurobehavior.

Authorship 1852817
type: Authorship
author rank in publication: 29
linked author: Kunkel, Louis
linked information resource: Missense variants in TUBA4A cause myo-tubulinopathies.

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.
PubMed Identifier: 265567
author list: Kunkel LM, Smith KD, Boyer SH, Borgaonkar DS, Wachtel SS, Miller OJ, Breg WR, Jones HW, Rary JM
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A. 1977 Mar; 74(3):1245-9.
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Conditional Dmd ablation in muscle and brain causes profound effects on muscle function and neurobehavior.
PubMed Identifier: 41331052
author list: Karuppasamy M, English KG, Conner JR, Rorrer SN, Lopez MA, Crossman DK, Paul JR, Gutierrez-Monreal MA, Gamble KL, Esser KA, Widrick JJ, Kunkel LM, Alexander MS
published in: Communications biology
information resource reference: Conditional Dmd ablation in muscle and brain causes profound effects on muscle function and neurobehavior. Commun Biol. 2025 Dec 02; 8(1):1736.
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type: Article
type: Document
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Missense variants in TUBA4A cause myo-tubulinopathies.
PubMed Identifier: 41678358
author list: Johari M, Folland C, Saito Y, Oud MM, Parmar JM, Töpf A, Kurbatov S, Ampleeva M, Zakharova EY, Chekmareva IA, Shirokova KS, Atiakshin D, van Beek R, Gardeitchik T, Kamsteeg EJ, Medici E, Donker Kaat L, Nemoto J, Komaki H, Okabe T, Kimoto Y, Tokito T, Nakanowatari M, Oya Y, Bruels CC, Stafki SA, Estrella EA, Littel HR, Kunkel LM, Kang PB, Osei-Owusu I, Pais L, O'Leary M, Austin-Tse C, O'Donnell-Luria A, Mangilog B, Genetti CA, Valivullah ZM, Radio FC, D'Amico A, Ciolfi A, Tartaglia M, Perrin A, Van Goethem C, Sole G, Martin-Négrier ML, Cossée M, Milic Rasic V, Kovacevic G, Kosac A, Moreno CAM, Gontijo Camelo C, Zanoteli E, Habib C, Fahey MC, Beggs AH, Poulsen NS, Vissing J, Straub V, Savarese M, Tasca G, Voermans NC, Laing NG, Udd B, Nishino I, Ravenscroft G
published in: Brain : a journal of neurology
information resource reference: Missense variants in TUBA4A cause myo-tubulinopathies. Brain. 2026 Feb 12.
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publication date: 2026-02-12T00:00:00
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Authorship 256467
type: Authorship
author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: The genomic organization of human dystrobrevin.

Authorship 744156
type: Authorship
author rank in publication: 5
linked author: Kunkel, Louis
linked information resource: Aberrations of the B-cell receptor B29 (CD79b) gene in chronic lymphocytic leukemia.

Authorship 744035
type: Authorship
author rank in publication: 18
linked author: Kunkel, Louis
linked information resource: A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).

A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).
PubMed Identifier: 24647604
author list: Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cavaçana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M
published in: Human molecular genetics
information resource reference: A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). Hum Mol Genet. 2014 Aug 01; 23(15):4103-10.
journal title abbreviation: Hum Mol Genet
publication date: 2014-03-18T00:00:00
year: 2014
type: Academic Article
type: Article
type: Document
type: Information Resource

Aberrations of the B-cell receptor B29 (CD79b) gene in chronic lymphocytic leukemia.
PubMed Identifier: 9269755
author list: Thompson AA, Talley JA, Do HN, Kagan HL, Kunkel L, Berenson J, Cooper MD, Saxon A, Wall R
published in: Blood
information resource reference: Aberrations of the B-cell receptor B29 (CD79b) gene in chronic lymphocytic leukemia. Blood. 1997 Aug 15; 90(4):1387-94.
journal title abbreviation: Blood
publication date: 1997-08-15T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 309236
type: Authorship
author rank in publication: 1
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linked information resource: Molecular genetics of Duchenne muscular dystrophy.

Professor of Pediatrics
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Professor of Stem Cell and Regenerative Biology and Grousbeck Professor of Pediatrics, Harvard Medical School
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HR job title: Professor of Stem Cell and Regenerative Biology and Grousbeck Professor of Pediatrics, Harvard Medical School
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Rosalind Franklin, PhD Professor of Pediatrics
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Professor of Pediatrics
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Professor of Neurology
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Instructor in Pediatrics
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position in division: Genetics
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Sir Edwin and Lady Manton Professor of Pediatrics
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Associate Professor of Pediatrics
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Associate Professor of Pathology
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Professor of Pediatrics
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Assistant Professor of Pediatrics
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Professor of Genetics
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Authorship 34459
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Authorship 329104
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Authorship 375514
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Authorship 418409
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linked information resource: Muscular dystrophies: genes to pathogenesis.

Authorship 752642
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Authorship 504022
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linked information resource: A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F.

Authorship 507821
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linked information resource: The influence of muscle type and dystrophin deficiency on murine expression profiles.

Authorship 344727
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linked information resource: Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy.

Authorship 54327
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linked information resource: Distinctive patterns of microRNA expression in primary muscular disorders.

Authorship 557097
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linked information resource: Human adhalin is alternatively spliced and the gene is located on chromosome 17q21.

Authorship 563928
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linked information resource: Side population cells isolated from different tissues share transcriptome signatures and express tissue-specific markers.

Authorship 344482
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linked information resource: Zebrafish orthologs of human muscular dystrophy genes.

Authorship 385666
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linked information resource: A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene.

Authorship 67660
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linked information resource: Improved diagnosis of Duchenne/Becker muscular dystrophy.

Authorship 97164
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linked information resource: Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy.

Authorship 459669
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linked information resource: Desmuslin, an intermediate filament protein that interacts with alpha -dystrobrevin and desmin.

Authorship 481058
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linked information resource: Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface.

Authorship 488204
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linked author: Kunkel, Louis
linked information resource: A role for nephrin, a renal protein, in vertebrate skeletal muscle cell fusion.

Authorship 498059
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linked information resource: Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.

Authorship 445919
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linked information resource: Evolutionary divergence of the mouse and human Lgn1/SMA repeat structures.

Authorship 513696
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linked information resource: Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation.

Authorship 533037
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linked information resource: Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle.

Authorship 522667
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linked information resource: Six-hour versus 12-hour protocols for AMI: CK-MB in conjunction with myoglobin.

Authorship 561918
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linked author: Kunkel, Louis
linked information resource: CXCR4 enhances engraftment of muscle progenitor cells.

Authorship 5687
type: Authorship
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linked author: Kunkel, Louis
linked information resource: Molecular classification of nemaline myopathies: "nontyping" specimens exhibit unique patterns of gene expression.

Authorship 543778
type: Authorship
author rank in publication: 1
linked author: Kunkel, Louis
linked information resource: Diagnosis and cell-based therapy for Duchenne muscular dystrophy in humans, mice, and zebrafish.

Authorship 375537
type: Authorship
author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin.

Emerging preclinical animal models for FSHD.
PubMed Identifier: 25801126
author list: Lek A, Rahimov F, Jones PL, Kunkel LM
published in: Trends in molecular medicine
information resource reference: Emerging preclinical animal models for FSHD. Trends Mol Med. 2015 May; 21(5):295-306.
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Authorship 382107
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linked information resource: Transcriptome-scale similarities between mouse and human skeletal muscles with normal and myopathic phenotypes.

Authorship 378541
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linked information resource: Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.

Authorship 385871
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linked author: Kunkel, Louis
linked information resource: Somitic origin of limb muscle satellite and side population cells.

Authorship 399510
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linked information resource: Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy.

Authorship 416089
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linked information resource: Duchenne/Becker muscular dystrophy: a short overview of the gene, the protein, and current diagnostics.

Authorship 449369
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linked author: Kunkel, Louis
linked information resource: DNA deletion in boy with Becker muscular dystrophy.

Authorship 426248
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linked author: Kunkel, Louis
linked information resource: Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.

Authorship 428569
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linked author: Kunkel, Louis
linked information resource: The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies.

Authorship 429522
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linked information resource: Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.

Authorship 353210
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism.

Authorship 221456
type: Authorship
author rank in publication: 7
linked author: Kunkel, Louis
linked information resource: Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.

Authorship 459476
type: Authorship
author rank in publication: 7
linked author: Kunkel, Louis
linked information resource: Beta-synemin localizes to regions of high stress in human skeletal myofibers.

Authorship 460310
type: Authorship
author rank in publication: 4
linked author: Kunkel, Louis
linked information resource: Synemin expression in brain.

Authorship 467966
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linked author: Kunkel, Louis
linked information resource: Localization of the McLeod locus (XK) within Xp21 by deletion analysis.

Authorship 377880
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linked author: Kunkel, Louis
linked information resource: Microarray analysis of normal and dystrophic skeletal muscle.

Authorship 487069
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linked information resource: Evidence for the association of dystrophin with the transverse tubular system in skeletal muscle.

Authorship 528399
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linked author: Kunkel, Louis
linked information resource: Novel actin crosslinker superfamily member identified by a two step degenerate PCR procedure.

Authorship 545837
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author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility.

Authorship 397956
type: Authorship
author rank in publication: 3
linked author: Kunkel, Louis
linked information resource: The distribution of dystrophin in the murine central nervous system: an immunocytochemical study.

Authorship 569991
type: Authorship
author rank in publication: 10
linked author: Kunkel, Louis
linked information resource: Regulation of DMD pathology by an ankyrin-encoded miRNA.

Authorship 5066
type: Authorship
author rank in publication: 10
linked author: Kunkel, Louis
linked information resource: Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin.

Authorship 7506
type: Authorship
author rank in publication: 7
linked author: Kunkel, Louis
linked information resource: Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy.

Authorship 53762
type: Authorship
author rank in publication: 1
linked author: Kunkel, Louis
linked information resource: Molecular studies of progressive muscular dystrophy (Duchenne).

Authorship 25336
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author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: High-density genomewide linkage analysis of exceptional human longevity identifies multiple novel loci.

Authorship 284219
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author rank in publication: 4
linked author: Kunkel, Louis
linked information resource: Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons.

Authorship 446186
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author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs.

Authorship 446982
type: Authorship
author rank in publication: 8
linked author: Kunkel, Louis
linked information resource: A genome scan in affected sib-pairs with familial vesicoureteral reflux identifies a locus on chromosome 5.

Authorship 473666
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linked author: Kunkel, Louis
linked information resource: Reproducibility of gene expression across generations of Affymetrix microarrays.

Authorship 502994
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linked information resource: The structural and functional diversity of dystrophin.

Authorship 577231
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linked information resource: 2004 William Allan Award address. Cloning of the DMD gene.

Authorship 560431
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linked information resource: Dystrophin expression in the mdx mouse restored by stem cell transplantation.

Authorship 244136
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linked information resource: Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane.

Authorship 215673
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linked information resource: Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.

Authorship 83992
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linked information resource: Beta-synemin expression in cardiotoxin-injected rat skeletal muscle.

Authorship 6887
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linked information resource: The subcellular distribution of dystrophin in mouse skeletal, cardiac, and smooth muscle.

Authorship 235206
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linked information resource: Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans.

Authorship 241672
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linked information resource: Gene expression profiling of Duchenne muscular dystrophy skeletal muscle.

Authorship 248818
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linked information resource: Effects of RAS on the genesis of embryonal rhabdomyosarcoma.

Authorship 250785
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linked information resource: Molecular deletion patterns in Duchenne and Becker type muscular dystrophy.

Authorship 305773
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linked information resource: Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis.

Authorship 334869
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linked information resource: Cloning of the Duchenne/Becker muscular dystrophy locus.

Authorship 419998
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linked information resource: A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function.

Authorship 260536
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linked information resource: Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.

Authorship 310206
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linked information resource: Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I.

Authorship 389494
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linked information resource: Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure.

Authorship 402375
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linked information resource: Skeletal muscle engraftment potential of adult mouse skin side population cells.

Authorship 497868
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linked information resource: A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome.

Authorship 227489
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linked author: Kunkel, Louis
linked information resource: Comment on "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients".

Authorship 387002
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linked author: Kunkel, Louis
linked information resource: Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines.

Authorship 34516
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linked information resource: A small deletion in the Duchenne/Becker muscular dystrophy locus--a functionally important region?

Authorship 536142
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linked information resource: Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.

Authorship 260295
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linked information resource: Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy.

Authorship 297643
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linked information resource: Identification of a novel microRNA that regulates the proliferation and differentiation in muscle side population cells.

Authorship 378393
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linked information resource: Human skeletal muscle-specific alpha-actinin-2 and -3 isoforms form homodimers and heterodimers in vitro and in vivo.

Authorship 414506
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linked information resource: A splice site mutation in laminin-a2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.

Authorship 44204
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linked information resource: Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy.

Authorship 240087
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linked information resource: Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA.

Authorship 446175
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linked author: Kunkel, Louis
linked information resource: Enormous dystrophin in a patient with Becker muscular dystrophy.

Authorship 306758
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linked author: Kunkel, Louis
linked information resource: Accurate and superaccurate gene mapping.

Authorship 338279
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linked information resource: Subcellular fractionation of dystrophin to the triads of skeletal muscle.

Authorship 366691
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linked author: Kunkel, Louis
linked information resource: Mapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13.

Authorship 478450
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linked author: Kunkel, Louis
linked information resource: Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.

Authorship 166423
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linked information resource: The genetics of aging.

Authorship 359324
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linked information resource: Molecular profiles of inflammatory myopathies.

Authorship 23136
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linked information resource: ß4 integrin marks interstitial myogenic progenitor cells in adult murine skeletal muscle.

Authorship 466583
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linked information resource: Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations.

Authorship 370627
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linked information resource: Cell and fiber-type distribution of dystrophin.

Authorship 407378
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linked information resource: Deficiency of adhalin in a patient with muscular dystrophy and cardiomyopathy.

Authorship 410118
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linked information resource: Gene expression profiling of skeletal muscles treated with a soluble activin type IIB receptor.

Authorship 477915
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linked information resource: Caveolin-3 deficiency as a cause of limb-girdle muscular dystrophy.

Authorship 492443
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linked information resource: The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.

Authorship 562156
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linked information resource: Systemic delivery of human microdystrophin to regenerating mouse dystrophic muscle by muscle progenitor cells.

Authorship 805028
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linked information resource: Muscular dystrophy in a family of Labrador Retrievers with no muscle dystrophin and a mild phenotype.

Authorship 797256
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linked information resource: A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.

A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.
PubMed Identifier: 25802879
author list: Al-Zaidy SA, Malik V, Kneile K, Rosales XQ, Gomez AM, Lewis S, Hashimoto S, Gastier-Foster J, Kang P, Darras B, Kunkel L, Carlo J, Sahenk Z, Moore SA, Pyatt R, Mendell JR
published in: Molecular genetics & genomic medicine
information resource reference: A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics. Mol Genet Genomic Med. 2015 Mar; 3(2):92-8.
journal title abbreviation: Mol Genet Genomic Med
publication date: 2015-01-08T00:00:00
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Muscular dystrophy in a family of Labrador Retrievers with no muscle dystrophin and a mild phenotype.
PubMed Identifier: 25813339
author list: Vieira NM, Guo LT, Estrela E, Kunkel LM, Zatz M, Shelton GD
published in: Neuromuscular disorders : NMD
information resource reference: Muscular dystrophy in a family of Labrador Retrievers with no muscle dystrophin and a mild phenotype. Neuromuscul Disord. 2015 May; 25(5):363-70.
journal title abbreviation: Neuromuscul Disord
publication date: 2015-03-03T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 58769
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linked author: Kunkel, Louis
linked information resource: LGMD2I in a North American population.

Authorship 299888
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linked information resource: Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses.

Authorship 304129
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linked information resource: A novel mutation in two families with limb-girdle muscular dystrophy type 2C.

Authorship 312859
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linked author: Kunkel, Louis
linked information resource: Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle.

Authorship 263672
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linked author: Kunkel, Louis
linked information resource: Specific assembly pathway of sarcoglycans is dependent on beta- and delta-sarcoglycan.

Authorship 299844
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linked author: Kunkel, Louis
linked information resource: Dystrophin analysis in clonal myoblasts derived from a Duchenne muscular dystrophy carrier.

Authorship 407731
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linked information resource: Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics.

Authorship 539059
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linked information resource: The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies.

Authorship 36805
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linked information resource: Zebrafish models for human FKRP muscular dystrophies.

Authorship 368776
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linked information resource: Immunoelectron microscopic localization of dystrophin in myofibres.

Authorship 436792
type: Authorship
author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: A pilot study of the anti-CD20 monoclonal antibody rituximab in patients with refractory immune thrombocytopenia.

Authorship 474288
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: In vitro expressed dystrophin fragments do not associate with each other.

Authorship 527369
type: Authorship
author rank in publication: 3
linked author: Kunkel, Louis
linked information resource: miRNAS in normal and diseased skeletal muscle.

Biomedical Informatics
type: Department
type: Organization

Authorship 471365
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: Dp140: alternatively spliced isoforms in brain and kidney.

Authorship 814927
type: Authorship
author rank in publication: 4
linked author: Kunkel, Louis
linked information resource: Emerging preclinical animal models for FSHD.

Authorship 814791
type: Authorship
author rank in publication: 10
linked author: Kunkel, Louis
linked information resource: Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling.

Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling.
PubMed Identifier: 26034133
author list: Kawahara G, Gasperini MJ, Myers JA, Widrick JJ, Eran A, Serafini PR, Alexander MS, Pletcher MT, Morris CA, Kunkel LM
published in: Human molecular genetics
information resource reference: Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling. Hum Mol Genet. 2015 Aug 01; 24(15):4480-1.
journal title abbreviation: Hum Mol Genet
publication date: 2015-06-01T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 286575
type: Authorship
author rank in publication: 3
linked author: Kunkel, Louis
linked information resource: An alternative dystrophin transcript specific to peripheral nerve.

Authorship 326309
type: Authorship
author rank in publication: 4
linked author: Kunkel, Louis
linked information resource: Feline muscular dystrophy with dystrophin deficiency.

Authorship 344171
type: Authorship
author rank in publication: 4
linked author: Kunkel, Louis
linked information resource: Molecular organization of sarcoglycan complex in mouse myotubes in culture.

Authorship 370213
type: Authorship
author rank in publication: 5
linked author: Kunkel, Louis
linked information resource: Characterization of zebrafish dysferlin by morpholino knockdown.

Authorship 820150
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: High-dose recombinant interleukin-2 therapy in patients with metastatic melanoma: long-term survival update.

Authorship 377525
type: Authorship
author rank in publication: 9
linked author: Kunkel, Louis
linked information resource: Stable expression of calpain 3 from a muscle transgene in vivo: immature muscle in transgenic mice suggests a role for calpain 3 in muscle maturation.

Authorship 829949
type: Authorship
author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: The Pathogenesis and Therapy of Muscular Dystrophies.

The Pathogenesis and Therapy of Muscular Dystrophies.
PubMed Identifier: 26048046
author list: Guiraud S, Aartsma-Rus A, Vieira NM, Davies KE, van Ommen GJ, Kunkel LM
published in: Annual review of genomics and human genetics
information resource reference: The Pathogenesis and Therapy of Muscular Dystrophies. Annu Rev Genomics Hum Genet. 2015; 16:281-308.
journal title abbreviation: Annu Rev Genomics Hum Genet
publication date: 2015-06-04T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 513337
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: Syntrophin binds to an alternatively spliced exon of dystrophin.

Authorship 575974
type: Authorship
author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives.

Authorship 360384
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: A strategy to reveal high-frequency RFLPs along the human X chromosome.

Authorship 505676
type: Authorship
author rank in publication: 8
linked author: Kunkel, Louis
linked information resource: The concomitant use of dystrophin and utrophin/dystrophin related protein antibodies to reduce misdiagnosis of Duchenne/Becker muscular dystrophy.

Authorship 847267
type: Authorship
author rank in publication: 11
linked author: Kunkel, Louis
linked information resource: Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype.

Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype.
PubMed Identifier: 26582133
author list: Vieira NM, Elvers I, Alexander MS, Moreira YB, Eran A, Gomes JP, Marshall JL, Karlsson EK, Verjovski-Almeida S, Lindblad-Toh K, Kunkel LM, Zatz M
published in: Cell
information resource reference: Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype. Cell. 2015 Nov 19; 163(5):1204-1213.
journal title abbreviation: Cell
publication date: 2015-11-12T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 522755
type: Authorship
author rank in publication: 4
linked author: Kunkel, Louis
linked information resource: Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction.

Authorship 541778
type: Authorship
author rank in publication: 13
linked author: Kunkel, Louis
linked information resource: Rituximab using a thrice weekly dosing schedule in B-cell chronic lymphocytic leukemia and small lymphocytic lymphoma demonstrates clinical activity and acceptable toxicity.

Authorship 855527
type: Authorship
author rank in publication: 27
linked author: Kunkel, Louis
linked information resource: A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.
PubMed Identifier: 26642240
author list: Jabara HH, Boyden SE, Chou J, Ramesh N, Massaad MJ, Benson H, Bainter W, Fraulino D, Rahimov F, Sieff C, Liu ZJ, Alshemmari SH, Al-Ramadi BK, Al-Dhekri H, Arnaout R, Abu-Shukair M, Vatsayan A, Silver E, Ahuja S, Davies EG, Sola-Visner M, Ohsumi TK, Andrews NC, Notarangelo LD, Fleming MD, Al-Herz W, Kunkel LM, Geha RS
published in: Nature genetics
information resource reference: A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. Nat Genet. 2016 Jan; 48(1):74-8.
journal title abbreviation: Nat Genet
publication date: 2015-12-07T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 503221
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: Dystrophin mRNA in lyophilized tissue.

Authorship 90949
type: Authorship
author rank in publication: 3
linked author: Kunkel, Louis
linked information resource: Muscular dystrophy research: what have we learned and where do we go from here?

Evaluating a New Antibody for SP Cell Sorting/Differentiation Capacity of SP Cells Co-Cultured with DRGs
end date: 2002-08-31T00:00:00
start date: 2002-05-01T00:00:00
type: Mentoring - Completed Student Project
overview: Summer

Authorship 356312
type: Authorship
author rank in publication: 4
linked author: Kunkel, Louis
linked information resource: Haplotype-based identification of a microsomal transfer protein marker associated with the human lifespan.

Authorship 505118
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: The genetics of exceptional human longevity.

Assistant Professor
sort order: 2
type: Faculty Rank

Associate Professor
sort order: 1
type: Faculty Rank

Full Professor
sort order: 0
type: Faculty Rank

Instructor
sort order: 4
type: Faculty Rank

Authorship 99957
type: Authorship
author rank in publication: 3
linked author: Kunkel, Louis
linked information resource: Dystrophin: the protein product of the Duchene muscular dystrophy locus. 1987.

Authorship 564185
type: Authorship
author rank in publication: 1
linked author: Kunkel, Louis
linked information resource: Molecular genetics of Duchenne and Becker muscular dystrophy: emphasis on improved diagnosis.

Authorship 70850
type: Authorship
author rank in publication: 8
linked author: Kunkel, Louis
linked information resource: https://connects.catalyst.harvard.edu/Profiles/profile/867121

Authorship 79457
type: Authorship
author rank in publication: 4
linked author: Kunkel, Louis
linked information resource: Dystrophin distribution in heterozygote MDX mice.

Authorship 81090
type: Authorship
author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: Bone marrow side population cells are enriched for progenitors capable of myogenic differentiation.

Authorship 557609
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: Interaction of chromosome-6-encoded dystrophin related protein with the extracellular matrix.

Biomarkers for Therapy of FSHD (U54)
end date: 2018-05-31
principal investigator name: EMERSON, CHARLES P.
start date: 2008-09-10
type: Grant
sponsor award id: U54HD060848

Pathogenesis and Treatment of Muscular Dystrophy
end date: 2012-03-31
principal investigator name: KUNKEL, LOUIS M
start date: 2000-12-01
type: Grant
sponsor award id: P50NS040828

Gene expression in normal &diseased muscle development
end date: 2012-03-31
principal investigator name: KUNKEL, LOUIS M
start date: 2000-12-01
type: Grant
sponsor award id: P01NS040828

Genetic Studies of Interstitial Cystitis
end date: 2013-07-31
principal investigator name: KUNKEL, LOUIS M
start date: 2008-08-01
type: Grant
sponsor award id: R01DK081647

AUTOMATED DNA SEQUENCER
end date: 1992-07-11
principal investigator name: KUNKEL, LOUIS M
start date: 1991-07-12
type: Grant
sponsor award id: S10RR006285

AUTOMATED DNA SEQUENCER
end date: 1997-09-14
principal investigator name: KUNKEL, LOUIS M
start date: 1996-09-15
type: Grant
sponsor award id: S10RR011258

GENETIC AND CYTOGENETIC STUDIES OF MENTAL RETARDATION
end date: 1998-12-31
principal investigator name: KUNKEL, LOUIS M
start date: 1983-01-01
type: Grant
sponsor award id: P01HD018658

DYSTROPHIN AND RELATED PROTEINS IN NEUROMUSCULAR DISEASE
end date: 1999-06-30
principal investigator name: KUNKEL, LOUIS M
start date: 1986-07-01
type: Grant
sponsor award id: R01NS023740

RNA Expression Patterns in Autism
end date: 2013-12-31
principal investigator name: KUNKEL, LOUIS M
start date: 2008-07-22
type: Grant
sponsor award id: R01MH085143

Intellectual and Developmental Disablities Research Center
end date: 2016-09-22
principal investigator name: POMEROY, SCOTT LOREN
start date: 1983-01-01
type: Grant
sponsor award id: P30HD018655

Modulation of Jagged1/Pitpna in DMD as a means of therapy
end date: 2025-07-31
principal investigator name: KUNKEL, LOUIS M
start date: 2014-04-01
type: Grant
sponsor award id: R01AR064300

Co-Principal Investigator
type: Researcher Role
researcher role of: Kunkel, Louis
contributes to: GENETIC AND CYTOGENETIC STUDIES OF MENTAL RETARDATION

Principal Investigator
type: Researcher Role
researcher role of: Kunkel, Louis
contributes to: AUTOMATED DNA SEQUENCER

Principal Investigator
type: Researcher Role
researcher role of: Kunkel, Louis
contributes to: AUTOMATED DNA SEQUENCER

Co-Principal Investigator
type: Researcher Role
researcher role of: Kunkel, Louis
contributes to: Genetic Studies of Interstitial Cystitis

Principal Investigator
type: Researcher Role
researcher role of: Kunkel, Louis
contributes to: Pathogenesis and Treatment of Muscular Dystrophy

Principal Investigator
type: Researcher Role
researcher role of: Kunkel, Louis
contributes to: RNA Expression Patterns in Autism

Principal Investigator
type: Researcher Role
researcher role of: Kunkel, Louis
contributes to: Gene expression in normal &diseased muscle development

Co-Principal Investigator
type: Researcher Role
researcher role of: Kunkel, Louis
contributes to: Intellectual and Developmental Disablities Research Center

Principal Investigator
type: Researcher Role
researcher role of: Kunkel, Louis
contributes to: DYSTROPHIN AND RELATED PROTEINS IN NEUROMUSCULAR DISEASE

Co-Principal Investigator
type: Researcher Role
researcher role of: Kunkel, Louis
contributes to: Biomarkers for Therapy of FSHD (U54)

Principal Investigator
type: Researcher Role
researcher role of: Kunkel, Louis
contributes to: Modulation of Jagged1/Pitpna in DMD as a means of therapy

Authorship 63819
type: Authorship
author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: Drug screening in a zebrafish model of Duchenne muscular dystrophy.

Authorship 913313
type: Authorship
author rank in publication: 36
linked author: Kunkel, Louis
linked information resource: The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.

Authorship 912572
type: Authorship
author rank in publication: 3
linked author: Kunkel, Louis
linked information resource: Caregiver financial distress, depressive symptoms and limited social capital as barriers to children's dental care in a mid-western county in the United States.

Caregiver financial distress, depressive symptoms and limited social capital as barriers to children's dental care in a mid-western county in the United States.
PubMed Identifier: 26738225
author list: Kruger JS, Kodjebacheva GD, Kunkel L, Smith KD, Kruger DJ
published in: Community dental health
information resource reference: Caregiver financial distress, depressive symptoms and limited social capital as barriers to children's dental care in a mid-western county in the United States. Community Dent Health. 2015 Dec; 32(4):252-6.
journal title abbreviation: Community Dent Health
publication date: 2015-12-01T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 76145
type: Authorship
author rank in publication: 5
linked author: Kunkel, Louis
linked information resource: Conversion of mdx myofibres from dystrophin-negative to -positive by injection of normal myoblasts.

Authorship 915456
type: Authorship
author rank in publication: 11
linked author: Kunkel, Louis
linked information resource: Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.

Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.
PubMed Identifier: 26934379
author list: Reddy HM, Hamed SA, Lek M, Mitsuhashi S, Estrella E, Jones MD, Mahoney LJ, Duncan AR, Cho KA, Macarthur DG, Kunkel LM, Kang PB
published in: Muscle & nerve
information resource reference: Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt. Muscle Nerve. 2016 10; 54(4):690-5.
journal title abbreviation: Muscle Nerve
publication date: 2016-08-24T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 93363
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location.

Authorship 94922
type: Authorship
author rank in publication: 8
linked author: Kunkel, Louis
linked information resource: Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma.

Boston Intellectual and Developmental Disabilities Research Center
end date: 2021-05-31
principal investigator name: POMEROY, SCOTT LOREN
start date: 2016-09-23
type: Grant
sponsor award id: U54HD090255

Co-Principal Investigator
type: Researcher Role
researcher role of: Kunkel, Louis
contributes to: Boston Intellectual and Developmental Disabilities Research Center

Authorship 412388
type: Authorship
author rank in publication: 8
linked author: Kunkel, Louis
linked information resource: The zebrafish runzel muscular dystrophy is linked to the titin gene.

Authorship 922962
type: Authorship
author rank in publication: 7
linked author: Kunkel, Louis
linked information resource: Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy.

Authorship 928017
type: Authorship
author rank in publication: 15
linked author: Kunkel, Louis
linked information resource: The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

Authorship 923369
type: Authorship
author rank in publication: 10
linked author: Kunkel, Louis
linked information resource: CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells and Is Linked to Muscular Dystrophies.

Authorship 928694
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: Zebrafish based small molecule screens for novel DMD drugs.

CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells and Is Linked to Muscular Dystrophies.
PubMed Identifier: 27641304
author list: Alexander MS, Rozkalne A, Colletta A, Spinazzola JM, Johnson S, Rahimov F, Meng H, Lawlor MW, Estrella E, Kunkel LM, Gussoni E
published in: Cell stem cell
information resource reference: CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells and Is Linked to Muscular Dystrophies. Cell Stem Cell. 2016 12 01; 19(6):800-807.
journal title abbreviation: Cell Stem Cell
publication date: 2016-09-15T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
PubMed Identifier: 27708273
author list: Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, MacArthur DG, Kang PB
published in: Journal of human genetics
information resource reference: The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. J Hum Genet. 2017 Feb; 62(2):243-252.
journal title abbreviation: J Hum Genet
publication date: 2016-10-06T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Zebrafish based small molecule screens for novel DMD drugs.
PubMed Identifier: 23646060
author list: Kawahara G, Kunkel LM
published in: Drug discovery today. Technologies
information resource reference: Zebrafish based small molecule screens for novel DMD drugs. Drug Discov Today Technol. 2013; 10(1):e91-e96.
journal title abbreviation: Drug Discov Today Technol
publication date: 2013-01-01T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy.
PubMed Identifier: 27764767
author list: Widrick JJ, Alexander MS, Sanchez B, Gibbs DE, Kawahara G, Beggs AH, Kunkel LM
published in: Physiological genomics
information resource reference: Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy. Physiol Genomics. 2016 11 01; 48(11):850-860.
journal title abbreviation: Physiol Genomics
publication date: 2016-10-07T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 428800
type: Authorship
author rank in publication: 3
linked author: Kunkel, Louis
linked information resource: Analysis of human sarcospan as a candidate gene for CFEOM1.

Authorship 435392
type: Authorship
author rank in publication: 9
linked author: Kunkel, Louis
linked information resource: Delta-sarcoglycan is required for early zebrafish muscle organization.

Authorship 936350
type: Authorship
author rank in publication: 15
linked author: Kunkel, Louis
linked information resource: Reversal of neurobehavioral social deficits in dystrophic mice using inhibitors of phosphodiesterases PDE5A and PDE9A.

Reversal of neurobehavioral social deficits in dystrophic mice using inhibitors of phosphodiesterases PDE5A and PDE9A.
PubMed Identifier: 27676442
author list: Alexander MS, Gasperini MJ, Tsai PT, Gibbs DE, Spinazzola JM, Marshall JL, Feyder MJ, Pletcher MT, Chekler EL, Morris CA, Sahin M, Harms JF, Schmidt CJ, Kleiman RJ, Kunkel LM
published in: Translational psychiatry
information resource reference: Reversal of neurobehavioral social deficits in dystrophic mice using inhibitors of phosphodiesterases PDE5A and PDE9A. Transl Psychiatry. 2016 Sep 27; 6(9):e901.
journal title abbreviation: Transl Psychiatry
publication date: 2016-09-27T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 248950
type: Authorship
author rank in publication: 7
linked author: Kunkel, Louis
linked information resource: A method to codetect introduced genes and their products in gene therapy protocols.

Authorship 260601
type: Authorship
author rank in publication: 3
linked author: Kunkel, Louis
linked information resource: Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus.

Authorship 321108
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: Dystrophies and heart disease.

Authorship 943253
type: Authorship
author rank in publication: 1
linked author: Kunkel, Louis
linked information resource: Reflections on Henry Kunkel outside the laboratory.

Reflections on Henry Kunkel outside the laboratory.
PubMed Identifier: 27438726
author list: Kunkel LM, Kunkel HG
published in: Clinical immunology (Orlando, Fla.)
information resource reference: Reflections on Henry Kunkel outside the laboratory. Clin Immunol. 2016 11; 172:21-22.
journal title abbreviation: Clin Immunol
publication date: 2016-07-18T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 407402
type: Authorship
author rank in publication: 10
linked author: Kunkel, Louis
linked information resource: Variations in gene expression among different types of human skeletal muscle.

Authorship 428753
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: Cloning the gene for the inherited disorder chronic granulomatous disease on the basis of its chromosomal location.

Authorship 461440
type: Authorship
author rank in publication: 11
linked author: Kunkel, Louis
linked information resource: Caveolin-3 in muscular dystrophy.

Authorship 525210
type: Authorship
author rank in publication: 6
linked author: Kunkel, Louis
linked information resource: Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers.

Authorship 96386
type: Authorship
author rank in publication: 9
linked author: Kunkel, Louis
linked information resource: Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.

320 Longwood Avenue
type: Address
address line 1: Children's Hospital
address line 2: Division of Genetics, Enders 570
address line 3: 320 Longwood Avenue
city: Boston
postal code: 02115
state or province: MA

Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane.
PubMed Identifier: 8845841
author list: Sadoulet-Puccio HM, Khurana TS, Cohen JB, Kunkel LM
published in: Human molecular genetics
information resource reference: Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane. Hum Mol Genet. 1996 Apr; 5(4):489-96.
journal title abbreviation: Hum Mol Genet
publication date: 1996-04-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

The mouse region syntenic for human spinal muscular atrophy lies within the Lgn1 critical interval and contains multiple copies of Naip exon 5.
PubMed Identifier: 8975718
author list: Scharf JM, Damron D, Frisella A, Bruno S, Beggs AH, Kunkel LM, Dietrich WF
published in: Genomics
information resource reference: The mouse region syntenic for human spinal muscular atrophy lies within the Lgn1 critical interval and contains multiple copies of Naip exon 5. Genomics. 1996 Dec 15; 38(3):405-17.
journal title abbreviation: Genomics
publication date: 1996-12-15T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Additional dystrophin fragment in Becker muscular dystrophy may result from proteolytic cleavage at deletion junctions.
PubMed Identifier: 1488990
author list: Beggs AH, Hoffman EP, Kunkel LM
published in: American journal of medical genetics
information resource reference: Additional dystrophin fragment in Becker muscular dystrophy may result from proteolytic cleavage at deletion junctions. Am J Med Genet. 1992 Oct 01; 44(3):378-81.
journal title abbreviation: Am J Med Genet
publication date: 1992-10-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Mapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13.
PubMed Identifier: 1881920
author list: Lien LL, Boyce FM, Kleyn P, Brzustowicz LM, Menninger J, Ward DC, Gilliam TC, Kunkel LM
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Mapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13. Proc Natl Acad Sci U S A. 1991 Sep 01; 88(17):7873-6.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1991-09-01T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3.
PubMed Identifier: 11454237
author list: Mizuno Y, Puca AA, O'Brien KF, Beggs AH, Kunkel LM
published in: BMC genetics
information resource reference: Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3. BMC Genet. 2001; 2:8.
journal title abbreviation: BMC Genet
publication date: 2001-06-20T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.
PubMed Identifier: 11710958
author list: Bennett RR, den Dunnen J, O'Brien KF, Darras BT, Kunkel LM
published in: BMC genetics
information resource reference: Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. BMC Genet. 2001; 2:17.
journal title abbreviation: BMC Genet
publication date: 2001-10-17T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy.
PubMed Identifier: 12899872
author list: Jones KJ, Compton AG, Yang N, Mills MA, Peters MF, Mowat D, Kunkel LM, Froehner SC, North KN
published in: Neuromuscular disorders : NMD
information resource reference: Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy. Neuromuscul Disord. 2003 Aug; 13(6):456-67.
journal title abbreviation: Neuromuscul Disord
publication date: 2003-08-01T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Dystrophies and heart disease.
PubMed Identifier: 9243091
author list: Cox GF, Kunkel LM
published in: Current opinion in cardiology
information resource reference: Dystrophies and heart disease. Curr Opin Cardiol. 1997 May; 12(3):329-43.
journal title abbreviation: Curr Opin Cardiol
publication date: 1997-05-01T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 961139
type: Authorship
author rank in publication: 7
linked author: Kunkel, Louis
linked information resource: Phase I experience with an anti-glycotope monoclonal antibody, RAV12, in recurrent adenocarcinoma.

Authorship 961915
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: Skeletal Muscle MicroRNAs: Their Diagnostic and Therapeutic Potential in Human Muscle Diseases.

Skeletal Muscle MicroRNAs: Their Diagnostic and Therapeutic Potential in Human Muscle Diseases.
PubMed Identifier: 27547731
author list: Alexander MS, Kunkel LM
published in: Journal of neuromuscular diseases
information resource reference: Skeletal Muscle MicroRNAs: Their Diagnostic and Therapeutic Potential in Human Muscle Diseases. J Neuromuscul Dis. 2015; 2(1):1-11.
journal title abbreviation: J Neuromuscul Dis
publication date: 2015-01-01T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Phase I experience with an anti-glycotope monoclonal antibody, RAV12, in recurrent adenocarcinoma.
PubMed Identifier: 27947624
author list: Lewis N, Rosen LS, Rocha Lima C, Marshall JL, Jones SF, Cohen RB, Kunkel L, Stewart S, Burris HA
published in: Journal of clinical oncology : official journal of the American Society of Clinical Oncology
information resource reference: Phase I experience with an anti-glycotope monoclonal antibody, RAV12, in recurrent adenocarcinoma. J Clin Oncol. 2008 May 20; 26(15_suppl):3023.
journal title abbreviation: J Clin Oncol
publication date: 2008-05-20T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11.
PubMed Identifier: 1339456
author list: Beggs AH, Byers TJ, Knoll JH, Boyce FM, Bruns GA, Kunkel LM
published in: The Journal of biological chemistry
information resource reference: Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. J Biol Chem. 1992 May 05; 267(13):9281-8.
journal title abbreviation: J Biol Chem
publication date: 1992-05-05T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma.
PubMed Identifier: 10480350
author list: von Deimling F, Scharf JM, Liehr T, Rothe M, Kelter AR, Albers P, Dietrich WF, Kunkel LM, Wernert N, Wirth B
published in: Human genetics
information resource reference: Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma. Hum Genet. 1999 Jul-Aug; 105(1-2):17-27.
journal title abbreviation: Hum Genet
publication date: 1999-07-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F.
PubMed Identifier: 10838250
author list: Dinçer P, Bönnemann CG, Erdir Aker O, Akçoren Z, Nigro V, Kunkel LM, Topalolu H
published in: Neuromuscular disorders : NMD
information resource reference: A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F. Neuromuscul Disord. 2000 Jun; 10(4-5):247-50.
journal title abbreviation: Neuromuscul Disord
publication date: 2000-06-01T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

Diagnosis and cell-based therapy for Duchenne muscular dystrophy in humans, mice, and zebrafish.
PubMed Identifier: 16583129
author list: Kunkel LM, Bachrach E, Bennett RR, Guyon J, Steffen L
published in: Journal of human genetics
information resource reference: Diagnosis and cell-based therapy for Duchenne muscular dystrophy in humans, mice, and zebrafish. J Hum Genet. 2006; 51(5):397-406.
journal title abbreviation: J Hum Genet
publication date: 2006-04-01T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Evolutionary divergence of the mouse and human Lgn1/SMA repeat structures.
PubMed Identifier: 10708519
author list: Growney JD, Scharf JM, Kunkel LM, Dietrich WF
published in: Genomics
information resource reference: Evolutionary divergence of the mouse and human Lgn1/SMA repeat structures. Genomics. 2000 Feb 15; 64(1):62-81.
journal title abbreviation: Genomics
publication date: 2000-02-15T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines.
PubMed Identifier: 11171996
author list: Takada F, Vander Woude DL, Tong HQ, Thompson TG, Watkins SC, Kunkel LM, Beggs AH
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. Proc Natl Acad Sci U S A. 2001 Feb 13; 98(4):1595-600.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2001-02-06T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Rituximab using a thrice weekly dosing schedule in B-cell chronic lymphocytic leukemia and small lymphocytic lymphoma demonstrates clinical activity and acceptable toxicity.
PubMed Identifier: 11304767
author list: Byrd JC, Murphy T, Howard RS, Lucas MS, Goodrich A, Park K, Pearson M, Waselenko JK, Ling G, Grever MR, Grillo-Lopez AJ, Rosenberg J, Kunkel L, Flinn IW
published in: Journal of clinical oncology : official journal of the American Society of Clinical Oncology
information resource reference: Rituximab using a thrice weekly dosing schedule in B-cell chronic lymphocytic leukemia and small lymphocytic lymphoma demonstrates clinical activity and acceptable toxicity. J Clin Oncol. 2001 Apr 15; 19(8):2153-64.
journal title abbreviation: J Clin Oncol
publication date: 2001-04-15T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Localization of dystrophin and dystrophin-related protein at the electromotor synapse and neuromuscular junction in Torpedo marmorata.
PubMed Identifier: 1630633
author list: Cartaud A, Ludosky MA, Tomé FM, Collin H, Stetzkowski-Marden F, Khurana TS, Kunkel LM, Fardeau M, Changeux JP, Cartaud J
published in: Neuroscience
information resource reference: Localization of dystrophin and dystrophin-related protein at the electromotor synapse and neuromuscular junction in Torpedo marmorata. Neuroscience. 1992 Jun; 48(4):995-1003.
journal title abbreviation: Neuroscience
publication date: 1992-06-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

LGMD2I in a North American population.
PubMed Identifier: 18036232
author list: Kang PB, Feener CA, Estrella E, Thorne M, White AJ, Darras BT, Amato AA, Kunkel LM
published in: BMC musculoskeletal disorders
information resource reference: LGMD2I in a North American population. BMC Musculoskelet Disord. 2007 Nov 24; 8:115.
journal title abbreviation: BMC Musculoskelet Disord
publication date: 2007-11-24T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

A genome scan in affected sib-pairs with familial vesicoureteral reflux identifies a locus on chromosome 5.
PubMed Identifier: 19690587
author list: Briggs CE, Guo CY, Schoettler C, Rosoklija I, Silva A, Bauer SB, Retik AB, Kunkel L, Nguyen HT
published in: European journal of human genetics : EJHG
information resource reference: A genome scan in affected sib-pairs with familial vesicoureteral reflux identifies a locus on chromosome 5. Eur J Hum Genet. 2010 Feb; 18(2):245-50.
journal title abbreviation: Eur J Hum Genet
publication date: 2009-08-19T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Zebrafish models for human FKRP muscular dystrophies.
PubMed Identifier: 19955119
author list: Kawahara G, Guyon JR, Nakamura Y, Kunkel LM
published in: Human molecular genetics
information resource reference: Zebrafish models for human FKRP muscular dystrophies. Hum Mol Genet. 2010 Feb 15; 19(4):623-33.
journal title abbreviation: Hum Mol Genet
publication date: 2009-12-01T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Skeletal muscle engraftment potential of adult mouse skin side population cells.
PubMed Identifier: 12886022
author list: Montanaro F, Liadaki K, Volinski J, Flint A, Kunkel LM
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Skeletal muscle engraftment potential of adult mouse skin side population cells. Proc Natl Acad Sci U S A. 2003 Aug 05; 100(16):9336-41.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2003-07-28T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Beta-synemin localizes to regions of high stress in human skeletal myofibers.
PubMed Identifier: 15318345
author list: Mizuno Y, Guyon JR, Watkins SC, Mizushima K, Sasaoka T, Imamura M, Kunkel LM, Okamoto K
published in: Muscle & nerve
information resource reference: Beta-synemin localizes to regions of high stress in human skeletal myofibers. Muscle Nerve. 2004 Sep; 30(3):337-46.
journal title abbreviation: Muscle Nerve
publication date: 2004-09-01T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

The subcellular distribution of dystrophin in mouse skeletal, cardiac, and smooth muscle.
PubMed Identifier: 1918148
author list: Byers TJ, Kunkel LM, Watkins SC
published in: The Journal of cell biology
information resource reference: The subcellular distribution of dystrophin in mouse skeletal, cardiac, and smooth muscle. J Cell Biol. 1991 Oct; 115(2):411-21.
journal title abbreviation: J Cell Biol
publication date: 1991-10-01T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).
PubMed Identifier: 8968749
author list: Bönnemann CG, Passos-Bueno MR, McNally EM, Vainzof M, de Sá Moreira E, Marie SK, Pavanello RC, Noguchi S, Ozawa E, Zatz M, Kunkel LM
published in: Human molecular genetics
information resource reference: Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). Hum Mol Genet. 1996 Dec; 5(12):1953-61.
journal title abbreviation: Hum Mol Genet
publication date: 1996-12-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Human skeletal muscle-specific alpha-actinin-2 and -3 isoforms form homodimers and heterodimers in vitro and in vivo.
PubMed Identifier: 9675099
author list: Chan Y, Tong HQ, Beggs AH, Kunkel LM
published in: Biochemical and biophysical research communications
information resource reference: Human skeletal muscle-specific alpha-actinin-2 and -3 isoforms form homodimers and heterodimers in vitro and in vivo. Biochem Biophys Res Commun. 1998 Jul 09; 248(1):134-9.
journal title abbreviation: Biochem Biophys Res Commun
publication date: 1998-07-09T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

A genome-wide scan for linkage to human exceptional longevity identifies a locus on chromosome 4.
PubMed Identifier: 11526246
author list: Puca AA, Daly MJ, Brewster SJ, Matise TC, Barrett J, Shea-Drinkwater M, Kang S, Joyce E, Nicoli J, Benson E, Kunkel LM, Perls T
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: A genome-wide scan for linkage to human exceptional longevity identifies a locus on chromosome 4. Proc Natl Acad Sci U S A. 2001 Aug 28; 98(18):10505-8.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2001-08-27T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.
PubMed Identifier: 2063877
author list: Beggs AH, Hoffman EP, Snyder JR, Arahata K, Specht L, Shapiro F, Angelini C, Sugita H, Kunkel LM
published in: American journal of human genetics
information resource reference: Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet. 1991 Jul; 49(1):54-67.
journal title abbreviation: Am J Hum Genet
publication date: 1991-07-01T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

A novel mutation in two families with limb-girdle muscular dystrophy type 2C.
PubMed Identifier: 16832103
author list: Duncan DR, Kang PB, Rabbat JC, Briggs CE, Lidov HG, Darras BT, Kunkel LM
published in: Neurology
information resource reference: A novel mutation in two families with limb-girdle muscular dystrophy type 2C. Neurology. 2006 Jul 11; 67(1):167-9.
journal title abbreviation: Neurology
publication date: 2006-07-11T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

An exploratory open-label trial of aripiprazole as an adjuvant to clozapine therapy in chronic schizophrenia.
PubMed Identifier: 16423166
author list: Henderson DC, Kunkel L, Nguyen DD, Borba CP, Daley TB, Louie PM, Freudenreich O, Cather C, Evins AE, Goff DC
published in: Acta psychiatrica Scandinavica
information resource reference: An exploratory open-label trial of aripiprazole as an adjuvant to clozapine therapy in chronic schizophrenia. Acta Psychiatr Scand. 2006 Feb; 113(2):142-7.
journal title abbreviation: Acta Psychiatr Scand
publication date: 2006-02-01T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.
PubMed Identifier: 8900232
author list: McNally EM, Passos-Bueno MR, Bönnemann CG, Vainzof M, de Sá Moreira E, Lidov HG, Othmane KB, Denton PH, Vance JM, Zatz M, Kunkel LM
published in: American journal of human genetics
information resource reference: Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. Am J Hum Genet. 1996 Nov; 59(5):1040-7.
journal title abbreviation: Am J Hum Genet
publication date: 1996-11-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

The subcellular distribution of chromosome 6-encoded dystrophin-related protein in the brain.
PubMed Identifier: 1400579
author list: Khurana TS, Watkins SC, Kunkel LM
published in: The Journal of cell biology
information resource reference: The subcellular distribution of chromosome 6-encoded dystrophin-related protein in the brain. J Cell Biol. 1992 Oct; 119(2):357-66.
journal title abbreviation: J Cell Biol
publication date: 1992-10-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Stable expression of calpain 3 from a muscle transgene in vivo: immature muscle in transgenic mice suggests a role for calpain 3 in muscle maturation.
PubMed Identifier: 12084932
author list: Spencer MJ, Guyon JR, Sorimachi H, Potts A, Richard I, Herasse M, Chamberlain J, Dalkilic I, Kunkel LM, Beckmann JS
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Stable expression of calpain 3 from a muscle transgene in vivo: immature muscle in transgenic mice suggests a role for calpain 3 in muscle maturation. Proc Natl Acad Sci U S A. 2002 Jun 25; 99(13):8874-9.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2002-06-19T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle.
PubMed Identifier: 12480088
author list: Bönnemann CG, Thompson TG, van der Ven PF, Goebel HH, Warlo I, Vollmers B, Reimann J, Herms J, Gautel M, Takada F, Beggs AH, Fürst DO, Kunkel LM, Hanefeld F, Schröder R
published in: Journal of the neurological sciences
information resource reference: Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle. J Neurol Sci. 2003 Jan 15; 206(1):71-8.
journal title abbreviation: J Neurol Sci
publication date: 2003-01-15T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Dystrophin expression in the mdx mouse restored by stem cell transplantation.
PubMed Identifier: 10517639
author list: Gussoni E, Soneoka Y, Strickland CD, Buzney EA, Khan MK, Flint AF, Kunkel LM, Mulligan RC
published in: Nature
information resource reference: Dystrophin expression in the mdx mouse restored by stem cell transplantation. Nature. 1999 Sep 23; 401(6751):390-4.
journal title abbreviation: Nature
publication date: 1999-09-23T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

The fate of individual myoblasts after transplantation into muscles of DMD patients.
PubMed Identifier: 9288722
author list: Gussoni E, Blau HM, Kunkel LM
published in: Nature medicine
information resource reference: The fate of individual myoblasts after transplantation into muscles of DMD patients. Nat Med. 1997 Sep; 3(9):970-7.
journal title abbreviation: Nat Med
publication date: 1997-09-01T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation.
PubMed Identifier: 12235112
author list: Gussoni E, Bennett RR, Muskiewicz KR, Meyerrose T, Nolta JA, Gilgoff I, Stein J, Chan YM, Lidov HG, Bönnemann CG, Von Moers A, Morris GE, Den Dunnen JT, Chamberlain JS, Kunkel LM, Weinberg K
published in: The Journal of clinical investigation
information resource reference: Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation. J Clin Invest. 2002 Sep; 110(6):807-14.
journal title abbreviation: J Clin Invest
publication date: 2002-09-01T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy.
PubMed Identifier: 1731332
author list: Beggs AH, Neumann PE, Arahata K, Arikawa E, Nonaka I, Anderson MS, Kunkel LM
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy. Proc Natl Acad Sci U S A. 1992 Jan 15; 89(2):623-7.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1992-01-15T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Caveolin-3 in muscular dystrophy.
PubMed Identifier: 9536092
author list: McNally EM, de Sá Moreira E, Duggan DJ, Bönnemann CG, Lisanti MP, Lidov HG, Vainzof M, Passos-Bueno MR, Hoffman EP, Zatz M, Kunkel LM
published in: Human molecular genetics
information resource reference: Caveolin-3 in muscular dystrophy. Hum Mol Genet. 1998 May; 7(5):871-7.
journal title abbreviation: Hum Mol Genet
publication date: 1998-05-01T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

Comparative sequence analysis of the mouse and human Lgn1/SMA interval.
PubMed Identifier: 10486205
author list: Endrizzi M, Huang S, Scharf JM, Kelter AR, Wirth B, Kunkel LM, Miller W, Dietrich WF
published in: Genomics
information resource reference: Comparative sequence analysis of the mouse and human Lgn1/SMA interval. Genomics. 1999 Sep 01; 60(2):137-51.
journal title abbreviation: Genomics
publication date: 1999-09-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy.
PubMed Identifier: 1476571
author list: Specht LA, Beggs AH, Korf B, Kunkel LM, Shapiro F
published in: Pediatric neurology
information resource reference: Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy. Pediatr Neurol. 1992 Nov-Dec; 8(6):432-6.
journal title abbreviation: Pediatr Neurol
publication date: 1992-11-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.
PubMed Identifier: 10655510
author list: Bönnemann CG, Cox GF, Shapiro F, Wu JJ, Feener CA, Thompson TG, Anthony DC, Eyre DR, Darras BT, Kunkel LM
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. Proc Natl Acad Sci U S A. 2000 Feb 01; 97(3):1212-7.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2000-02-01T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers.
PubMed Identifier: 11166165
author list: Olby NJ, Sharp NJ, Anderson LV, Kunkel LM, Bönnemann CG
published in: Neuromuscular disorders : NMD
information resource reference: Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers. Neuromuscul Disord. 2001 Jan; 11(1):41-9.
journal title abbreviation: Neuromuscul Disord
publication date: 2001-01-01T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker.
PubMed Identifier: 2896627
author list: van Ommen GJ, Bertelson C, Ginjaar HB, den Dunnen JT, Bakker E, Chelly J, Matton M, van Essen AJ, Bartley J, Kunkel LM
published in: Genomics
information resource reference: Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker. Genomics. 1987 Dec; 1(4):329-36.
journal title abbreviation: Genomics
publication date: 1987-12-01T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.
PubMed Identifier: 2984924
author list: de Martinville B, Kunkel LM, Bruns G, Morlé F, Koenig M, Mandel JL, Horwich A, Latt SA, Gusella JF, Housman D
published in: American journal of human genetics
information resource reference: Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. Am J Hum Genet. 1985 Mar; 37(2):235-49.
journal title abbreviation: Am J Hum Genet
publication date: 1985-03-01T00:00:00
year: 1985
type: Academic Article
type: Article
type: Document
type: Information Resource

Construction of a human X-chromosome-enriched phage library which facilitates analysis of specific loci.
PubMed Identifier: 2989089
author list: Kunkel LM, Lalande M, Monaco AP, Flint A, Middlesworth W, Latt SA
published in: Gene
information resource reference: Construction of a human X-chromosome-enriched phage library which facilitates analysis of specific loci. Gene. 1985; 33(3):251-8.
journal title abbreviation: Gene
publication date: 1985-01-01T00:00:00
year: 1985
type: Academic Article
type: Article
type: Document
type: Information Resource

The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs.
PubMed Identifier: 3290691
author list: Cooper BJ, Winand NJ, Stedman H, Valentine BA, Hoffman EP, Kunkel LM, Scott MO, Fischbeck KH, Kornegay JN, Avery RJ
published in: Nature
information resource reference: The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs. Nature. 1988 Jul 14; 334(6178):154-6.
journal title abbreviation: Nature
publication date: 1988-07-14T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Enormous dystrophin in a patient with Becker muscular dystrophy.
PubMed Identifier: 2158637
author list: Angelini C, Beggs AH, Hoffman EP, Fanin M, Kunkel LM
published in: Neurology
information resource reference: Enormous dystrophin in a patient with Becker muscular dystrophy. Neurology. 1990 May; 40(5):808-12.
journal title abbreviation: Neurology
publication date: 1990-05-01T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

Dp140: alternatively spliced isoforms in brain and kidney.
PubMed Identifier: 9339369
author list: Lidov HG, Kunkel LM
published in: Genomics
information resource reference: Dp140: alternatively spliced isoforms in brain and kidney. Genomics. 1997 Oct 01; 45(1):132-9.
journal title abbreviation: Genomics
publication date: 1997-10-01T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Centenarians and the genetics of longevity.
PubMed Identifier: 10838692
author list: Perls T, Terry DF, Silver M, Shea M, Bowen J, Joyce E, Ridge SB, Fretts R, Daly M, Brewster S, Puca A, Kunkel L
published in: Results and problems in cell differentiation
information resource reference: Centenarians and the genetics of longevity. Results Probl Cell Differ. 2000; 29:1-20.
journal title abbreviation: Results Probl Cell Differ
publication date: 2000-01-01T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

Life-long sustained mortality advantage of siblings of centenarians.
PubMed Identifier: 12060785
author list: Perls TT, Wilmoth J, Levenson R, Drinkwater M, Cohen M, Bogan H, Joyce E, Brewster S, Kunkel L, Puca A
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Life-long sustained mortality advantage of siblings of centenarians. Proc Natl Acad Sci U S A. 2002 Jun 11; 99(12):8442-7.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2002-06-11T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.
PubMed Identifier: 9106524
author list: Holm IA, Huang X, Kunkel LM
published in: American journal of human genetics
information resource reference: Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. Am J Hum Genet. 1997 Apr; 60(4):790-7.
journal title abbreviation: Am J Hum Genet
publication date: 1997-04-01T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Dystrobrevin and dystrophin: an interaction through coiled-coil motifs.
PubMed Identifier: 9356463
author list: Sadoulet-Puccio HM, Rajala M, Kunkel LM
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Dystrobrevin and dystrophin: an interaction through coiled-coil motifs. Proc Natl Acad Sci U S A. 1997 Nov 11; 94(23):12413-8.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1997-11-11T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Reproducibility of gene expression across generations of Affymetrix microarrays.
PubMed Identifier: 12823866
author list: Nimgaonkar A, Sanoudou D, Butte AJ, Haslett JN, Kunkel LM, Beggs AH, Kohane IS
published in: BMC bioinformatics
information resource reference: Reproducibility of gene expression across generations of Affymetrix microarrays. BMC Bioinformatics. 2003 Jun 25; 4:27.
journal title abbreviation: BMC Bioinformatics
publication date: 2003-06-25T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

The genetics of aging.
PubMed Identifier: 12076681
author list: Perls T, Kunkel L, Puca A
published in: Current opinion in genetics & development
information resource reference: The genetics of aging. Curr Opin Genet Dev. 2002 Jun; 12(3):362-9.
journal title abbreviation: Curr Opin Genet Dev
publication date: 2002-06-01T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans.
PubMed Identifier: 14506720
author list: Guyon JR, Kudryashova E, Potts A, Dalkilic I, Brosius MA, Thompson TG, Beckmann JS, Kunkel LM, Spencer MJ
published in: Muscle & nerve
information resource reference: Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans. Muscle Nerve. 2003 Oct; 28(4):472-83.
journal title abbreviation: Muscle Nerve
publication date: 2003-10-01T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions.
PubMed Identifier: 9063743
author list: Carter TA, Bönnemann CG, Wang CH, Obici S, Parano E, De Fatima Bonaldo M, Ross BM, Penchaszadeh GK, Mackenzie A, Soares MB, Kunkel LM, Gilliam TC
published in: Human molecular genetics
information resource reference: A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions. Hum Mol Genet. 1997 Feb; 6(2):229-36.
journal title abbreviation: Hum Mol Genet
publication date: 1997-02-01T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene.
PubMed Identifier: 9475163
author list: McNally EM, Ly CT, Kunkel LM
published in: FEBS letters
information resource reference: Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene. FEBS Lett. 1998 Jan 23; 422(1):27-32.
journal title abbreviation: FEBS Lett
publication date: 1998-01-23T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

ELISA quantitation of dystrophin for the diagnosis of Duchenne and Becker muscular dystrophies.
PubMed Identifier: 1549217
author list: Byers TJ, Neumann PE, Beggs AH, Kunkel LM
published in: Neurology
information resource reference: ELISA quantitation of dystrophin for the diagnosis of Duchenne and Becker muscular dystrophies. Neurology. 1992 Mar; 42(3 Pt 1):570-6.
journal title abbreviation: Neurology
publication date: 1992-03-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses.
PubMed Identifier: 2674948
author list: Arahata K, Hoffman EP, Kunkel LM, Ishiura S, Tsukahara T, Ishihara T, Sunohara N, Nonaka I, Ozawa E, Sugita H
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses. Proc Natl Acad Sci U S A. 1989 Sep; 86(18):7154-8.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1989-09-01T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 984013
type: Authorship
author rank in publication: 10
linked author: Kunkel, Louis
linked information resource: Repression of phosphatidylinositol transfer protein a ameliorates the pathology of Duchenne muscular dystrophy.

Repression of phosphatidylinositol transfer protein a ameliorates the pathology of Duchenne muscular dystrophy.
PubMed Identifier: 28533404
author list: Vieira NM, Spinazzola JM, Alexander MS, Moreira YB, Kawahara G, Gibbs DE, Mead LC, Verjovski-Almeida S, Zatz M, Kunkel LM
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Repression of phosphatidylinositol transfer protein a ameliorates the pathology of Duchenne muscular dystrophy. Proc Natl Acad Sci U S A. 2017 06 06; 114(23):6080-6085.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2017-05-22T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

The genetics of exceptional human longevity.
PubMed Identifier: 12028221
author list: Perls T, Kunkel LM, Puca AA
published in: Journal of the American Geriatrics Society
information resource reference: The genetics of exceptional human longevity. J Am Geriatr Soc. 2002 Feb; 50(2):359-68.
journal title abbreviation: J Am Geriatr Soc
publication date: 2002-02-01T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs.
PubMed Identifier: 2858615
author list: Bakker E, Hofker MH, Goor N, Mandel JL, Wrogemann K, Davies KE, Kunkel LM, Willard HF, Fenton WA, Sandkuyl L
published in: Lancet (London, England)
information resource reference: Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet. 1985 Mar 23; 1(8430):655-8.
journal title abbreviation: Lancet
publication date: 1985-03-23T00:00:00
year: 1985
type: Academic Article
type: Article
type: Document
type: Information Resource

Gene expression profiling of Duchenne muscular dystrophy skeletal muscle.
PubMed Identifier: 12698323
author list: Haslett JN, Sanoudou D, Kho AT, Han M, Bennett RR, Kohane IS, Beggs AH, Kunkel LM
published in: Neurogenetics
information resource reference: Gene expression profiling of Duchenne muscular dystrophy skeletal muscle. Neurogenetics. 2003 Aug; 4(4):163-71.
journal title abbreviation: Neurogenetics
publication date: 2003-04-16T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

A polymorphic CACA repeat in the 3' untranslated region of dystrophin.
PubMed Identifier: 1970874
author list: Beggs AH, Kunkel LM
published in: Nucleic acids research
information resource reference: A polymorphic CACA repeat in the 3' untranslated region of dystrophin. Nucleic Acids Res. 1990 Apr 11; 18(7):1931.
journal title abbreviation: Nucleic Acids Res
publication date: 1990-04-11T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

Stem and progenitor cells in skeletal muscle development, maintenance, and therapy.
PubMed Identifier: 17387336
author list: Péault B, Rudnicki M, Torrente Y, Cossu G, Tremblay JP, Partridge T, Gussoni E, Kunkel LM, Huard J
published in: Molecular therapy : the journal of the American Society of Gene Therapy
information resource reference: Stem and progenitor cells in skeletal muscle development, maintenance, and therapy. Mol Ther. 2007 May; 15(5):867-77.
journal title abbreviation: Mol Ther
publication date: 2007-03-27T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction.
PubMed Identifier: 2253937
author list: Beggs AH, Koenig M, Boyce FM, Kunkel LM
published in: Human genetics
information resource reference: Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet. 1990 Nov; 86(1):45-8.
journal title abbreviation: Hum Genet
publication date: 1990-11-01T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

Specific assembly pathway of sarcoglycans is dependent on beta- and delta-sarcoglycan.
PubMed Identifier: 14981741
author list: Shi W, Chen Z, Schottenfeld J, Stahl RC, Kunkel LM, Chan YM
published in: Muscle & nerve
information resource reference: Specific assembly pathway of sarcoglycans is dependent on beta- and delta-sarcoglycan. Muscle Nerve. 2004 Mar; 29(3):409-19.
journal title abbreviation: Muscle Nerve
publication date: 2004-03-01T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons.
PubMed Identifier: 2259381
author list: Lidov HG, Byers TJ, Watkins SC, Kunkel LM
published in: Nature
information resource reference: Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons. Nature. 1990 Dec 20-27; 348(6303):725-8.
journal title abbreviation: Nature
publication date: 1990-12-01T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

Differential membrane localization and intermolecular associations of alpha-dystrobrevin isoforms in skeletal muscle.
PubMed Identifier: 9732287
author list: Peters MF, Sadoulet-Puccio HM, Grady MR, Kramarcy NR, Kunkel LM, Sanes JR, Sealock R, Froehner SC
published in: The Journal of cell biology
information resource reference: Differential membrane localization and intermolecular associations of alpha-dystrobrevin isoforms in skeletal muscle. J Cell Biol. 1998 Sep 07; 142(5):1269-78.
journal title abbreviation: J Cell Biol
publication date: 1998-09-07T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular organization of sarcoglycan complex in mouse myotubes in culture.
PubMed Identifier: 9864373
author list: Chan YM, Bönnemann CG, Lidov HG, Kunkel LM
published in: The Journal of cell biology
information resource reference: Molecular organization of sarcoglycan complex in mouse myotubes in culture. J Cell Biol. 1998 Dec 28; 143(7):2033-44.
journal title abbreviation: J Cell Biol
publication date: 1998-12-28T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

A role for nephrin, a renal protein, in vertebrate skeletal muscle cell fusion.
PubMed Identifier: 19470472
author list: Sohn RL, Huang P, Kawahara G, Mitchell M, Guyon J, Kalluri R, Kunkel LM, Gussoni E
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: A role for nephrin, a renal protein, in vertebrate skeletal muscle cell fusion. Proc Natl Acad Sci U S A. 2009 Jun 09; 106(23):9274-9.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2009-05-22T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Microarray analysis of normal and dystrophic skeletal muscle.
PubMed Identifier: 12175874
author list: Haslett JN, Kunkel LM
published in: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
information resource reference: Microarray analysis of normal and dystrophic skeletal muscle. Int J Dev Neurosci. 2002 Jun-Aug; 20(3-5):359-65.
journal title abbreviation: Int J Dev Neurosci
publication date: 2002-06-01T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Muscular dystrophies: genes to pathogenesis.
PubMed Identifier: 12787784
author list: Dalkilic I, Kunkel LM
published in: Current opinion in genetics & development
information resource reference: Muscular dystrophies: genes to pathogenesis. Curr Opin Genet Dev. 2003 Jun; 13(3):231-8.
journal title abbreviation: Curr Opin Genet Dev
publication date: 2003-06-01T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy.
PubMed Identifier: 2993158
author list: Brown CS, Thomas NS, Sarfarazi M, Davies KE, Kunkel L, Pearson PL, Kingston HM, Shaw DJ, Harper PS
published in: Human genetics
information resource reference: Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy. Hum Genet. 1985; 71(1):62-74.
journal title abbreviation: Hum Genet
publication date: 1985-01-01T00:00:00
year: 1985
type: Academic Article
type: Article
type: Document
type: Information Resource

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.
PubMed Identifier: 2993910
author list: Monaco AP, Bertelson CJ, Middlesworth W, Colletti CA, Aldridge J, Fischbeck KH, Bartlett R, Pericak-Vance MA, Roses AD, Kunkel LM
published in: Nature
information resource reference: Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature. 1985 Aug 29-Sep 4; 316(6031):842-5.
journal title abbreviation: Nature
publication date: 1985-08-01T00:00:00
year: 1985
type: Academic Article
type: Article
type: Document
type: Information Resource

DNA linkage analysis of X chromosome-linked chronic granulomatous disease.
PubMed Identifier: 3010296
author list: Baehner RL, Kunkel LM, Monaco AP, Haines JL, Conneally PM, Palmer C, Heerema N, Orkin SH
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: DNA linkage analysis of X chromosome-linked chronic granulomatous disease. Proc Natl Acad Sci U S A. 1986 May; 83(10):3398-401.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1986-05-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers.
PubMed Identifier: 19339494
author list: Arashiro P, Eisenberg I, Kho AT, Cerqueira AM, Canovas M, Silva HC, Pavanello RC, Verjovski-Almeida S, Kunkel LM, Zatz M
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers. Proc Natl Acad Sci U S A. 2009 Apr 14; 106(15):6220-5.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2009-04-01T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Improved diagnosis of Becker muscular dystrophy by dystrophin testing.
PubMed Identifier: 2668783
author list: Hoffman EP, Kunkel LM, Angelini C, Clarke A, Johnson M, Harris JB
published in: Neurology
information resource reference: Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Neurology. 1989 Aug; 39(8):1011-7.
journal title abbreviation: Neurology
publication date: 1989-08-01T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular classification of nemaline myopathies: "nontyping" specimens exhibit unique patterns of gene expression.
PubMed Identifier: 15056467
author list: Sanoudou D, Frieden LA, Haslett JN, Kho AT, Greenberg SA, Kohane IS, Kunkel LM, Beggs AH
published in: Neurobiology of disease
information resource reference: Molecular classification of nemaline myopathies: "nontyping" specimens exhibit unique patterns of gene expression. Neurobiol Dis. 2004 Apr; 15(3):590-600.
journal title abbreviation: Neurobiol Dis
publication date: 2004-04-01T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy.
PubMed Identifier: 1892202
author list: Evans MI, Greb A, Kunkel LM, Sacks AJ, Johnson MP, Boehm C, Kazazian HH, Hoffman EP
published in: American journal of obstetrics and gynecology
information resource reference: In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy. Am J Obstet Gynecol. 1991 Sep; 165(3):728-32.
journal title abbreviation: Am J Obstet Gynecol
publication date: 1991-09-01T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Rapid detection of CA polymorphisms in cloned DNA: application to the 5' region of the dystrophin gene.
PubMed Identifier: 1998344
author list: Feener CA, Boyce FM, Kunkel LM
published in: American journal of human genetics
information resource reference: Rapid detection of CA polymorphisms in cloned DNA: application to the 5' region of the dystrophin gene. Am J Hum Genet. 1991 Mar; 48(3):621-7.
journal title abbreviation: Am J Hum Genet
publication date: 1991-03-01T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 997849
type: Authorship
author rank in publication: 2
linked author: Kunkel, Louis
linked information resource: Pharmacological therapeutics targeting the secondary defects and downstream pathology of Duchenne muscular dystrophy.

Pharmacological therapeutics targeting the secondary defects and downstream pathology of Duchenne muscular dystrophy.
PubMed Identifier: 28670506
author list: Spinazzola JM, Kunkel LM
published in: Expert opinion on orphan drugs
information resource reference: Pharmacological therapeutics targeting the secondary defects and downstream pathology of Duchenne muscular dystrophy. Expert Opin Orphan Drugs. 2016; 4(11):1179-1194.
journal title abbreviation: Expert Opin Orphan Drugs
publication date: 2016-10-18T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Cloning of human microtubule-associated protein 1B and the identification of a related gene on chromosome 15.
PubMed Identifier: 7806212
author list: Lien LL, Feener CA, Fischbach N, Kunkel LM
published in: Genomics
information resource reference: Cloning of human microtubule-associated protein 1B and the identification of a related gene on chromosome 15. Genomics. 1994 Jul 15; 22(2):273-80.
journal title abbreviation: Genomics
publication date: 1994-07-15T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.
PubMed Identifier: 8075644
author list: Engle EC, Kunkel LM, Specht LA, Beggs AH
published in: Nature genetics
information resource reference: Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nat Genet. 1994 May; 7(1):69-73.
journal title abbreviation: Nat Genet
publication date: 1994-05-01T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location.
PubMed Identifier: 2425263
author list: Royer-Pokora B, Kunkel LM, Monaco AP, Goff SC, Newburger PE, Baehner RL, Cole FS, Curnutte JT, Orkin SH
published in: Nature
information resource reference: Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location. Nature. 1986 Jul 3-9; 322(6074):32-8.
journal title abbreviation: Nature
publication date: 1986-07-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

The distribution of dystrophin in the murine central nervous system: an immunocytochemical study.
PubMed Identifier: 8515841
author list: Lidov HG, Byers TJ, Kunkel LM
published in: Neuroscience
information resource reference: The distribution of dystrophin in the murine central nervous system: an immunocytochemical study. Neuroscience. 1993 May; 54(1):167-87.
journal title abbreviation: Neuroscience
publication date: 1993-05-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

The influence of muscle type and dystrophin deficiency on murine expression profiles.
PubMed Identifier: 16261416
author list: Haslett JN, Kang PB, Han M, Kho AT, Sanoudou D, Volinski JM, Beggs AH, Kohane IS, Kunkel LM
published in: Mammalian genome : official journal of the International Mammalian Genome Society
information resource reference: The influence of muscle type and dystrophin deficiency on murine expression profiles. Mamm Genome. 2005 Oct; 16(10):739-48.
journal title abbreviation: Mamm Genome
publication date: 2005-10-29T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

Identification of a novel microRNA that regulates the proliferation and differentiation in muscle side population cells.
PubMed Identifier: 22541023
author list: Motohashi N, Alexander MS, Casar JC, Kunkel LM
published in: Stem cells and development
information resource reference: Identification of a novel microRNA that regulates the proliferation and differentiation in muscle side population cells. Stem Cells Dev. 2012 Nov 01; 21(16):3031-43.
journal title abbreviation: Stem Cells Dev
publication date: 2012-06-12T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Dystrophin and Dp140 in the adult rodent kidney.
PubMed Identifier: 9881954
author list: Lidov HG, Kunkel LM
published in: Laboratory investigation; a journal of technical methods and pathology
information resource reference: Dystrophin and Dp140 in the adult rodent kidney. Lab Invest. 1998 Dec; 78(12):1543-51.
journal title abbreviation: Lab Invest
publication date: 1998-12-01T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein.
PubMed Identifier: 10629222
author list: Thompson TG, Chan YM, Hack AA, Brosius M, Rajala M, Lidov HG, McNally EM, Watkins S, Kunkel LM
published in: The Journal of cell biology
information resource reference: Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein. J Cell Biol. 2000 Jan 10; 148(1):115-26.
journal title abbreviation: J Cell Biol
publication date: 2000-01-10T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

Zebrafish orthologs of human muscular dystrophy genes.
PubMed Identifier: 17374169
author list: Steffen LS, Guyon JR, Vogel ED, Beltre R, Pusack TJ, Zhou Y, Zon LI, Kunkel LM
published in: BMC genomics
information resource reference: Zebrafish orthologs of human muscular dystrophy genes. BMC Genomics. 2007 Mar 20; 8:79.
journal title abbreviation: BMC Genomics
publication date: 2007-03-20T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

https://connects.catalyst.harvard.edu/Profiles/profile/867121
PubMed Identifier: 2536049
author list: McCabe ER, Towbin J, Chamberlain J, Baumbach L, Witkowski J, van Ommen GJ, Koenig M, Kunkel LM, Seltzer WK
published in: The Journal of clinical investigation
information resource reference: Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia. J Clin Invest. 1989 Jan; 83(1):95-9.
journal title abbreviation: J Clin Invest
publication date: 1989-01-01T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource
label: Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.

Molecular deletion patterns in Duchenne and Becker type muscular dystrophy.
PubMed Identifier: 2784778
author list: Liechti-Gallati S, Koenig M, Kunkel LM, Frey D, Boltshauser E, Schneider V, Braga S, Moser H
published in: Human genetics
information resource reference: Molecular deletion patterns in Duchenne and Becker type muscular dystrophy. Hum Genet. 1989 Mar; 81(4):343-8.
journal title abbreviation: Hum Genet
publication date: 1989-03-01T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy.
PubMed Identifier: 2873362
author list: Fischbeck KH, Ritter AW, Tirschwell DL, Kunkel LM, Bertelson CJ, Monaco AP, Hejtmancik JF, Boehm C, Ionasescu V, Ionasescu R
published in: Lancet (London, England)
information resource reference: Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy. Lancet. 1986 Jul 12; 2(8498):104.
journal title abbreviation: Lancet
publication date: 1986-07-12T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

Comparative RNA editing in autistic and neurotypical cerebella.
PubMed Identifier: 22869036
author list: Eran A, Li JB, Vatalaro K, McCarthy J, Rahimov F, Collins C, Markianos K, Margulies DM, Brown EN, Calvo SE, Kohane IS, Kunkel LM
published in: Molecular psychiatry
information resource reference: Comparative RNA editing in autistic and neurotypical cerebella. Mol Psychiatry. 2013 Sep; 18(9):1041-8.
journal title abbreviation: Mol Psychiatry
publication date: 2012-08-07T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.
PubMed Identifier: 3014348
author list: Kunkel LM, Hejtmancik JF, Caskey CT, Speer A, Monaco AP, Middlesworth W, Colletti CA, Bertelson C, Müller U, Bresnan M, Shapiro F, Tantravahi U, Speer J, Latt SA, Bartlett R, Pericak-Vance MA, Roses AD, Thompson MW, Ray PN, Worton RG, Fischbeck KH, Gallano P, Coulon M, Duros C, Boue J, Junien C, Chelly J, Hamard G, Jeanpierre M, Lambert M, Kaplan JC, Emery A, Dorkins H, McGlade S, Davies KE, Boehm C, Arveiler B, Lemaire C, Morgan GJ, Denton MJ, Amos J, Bobrow M, Benham F, Boswinkel E, Cole C, Dubowitz V, Hart K, Hodgson S, Johnson L, Walker A, Roncuzzi L, Ferlini A, Nobile C, Romeo G, Wilcox DE, Affara NA, Ferguson-Smith MA, Lindolf M, Kaariainen H, de la Chapelle A, Ionasescu V, Searby C, Ionasescu R, Bakker E, van Ommen GJ, Pearson PL, Greenberg CR, Hamerton JL, Wrogemann K, Doherty RA, Polakowska R, Hyser C, Quirk S, Thomas N, Harper JF, Darras BT, Francke U
published in: Nature
information resource reference: Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature. 1986 Jul 3-9; 322(6074):73-7.
journal title abbreviation: Nature
publication date: 1986-07-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface.
PubMed Identifier: 3042151
author list: Bonilla E, Samitt CE, Miranda AF, Hays AP, Salviati G, DiMauro S, Kunkel LM, Hoffman EP, Rowland LP
published in: Cell
information resource reference: Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface. Cell. 1988 Aug 12; 54(4):447-52.
journal title abbreviation: Cell
publication date: 1988-08-12T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Conversion of mdx myofibres from dystrophin-negative to -positive by injection of normal myoblasts.
PubMed Identifier: 2643055
author list: Partridge TA, Morgan JE, Coulton GR, Hoffman EP, Kunkel LM
published in: Nature
information resource reference: Conversion of mdx myofibres from dystrophin-negative to -positive by injection of normal myoblasts. Nature. 1989 Jan 12; 337(6203):176-9.
journal title abbreviation: Nature
publication date: 1989-01-12T00:00:00
year: 1989
type: Academic Article
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type: Document
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Somitic origin of limb muscle satellite and side population cells.
PubMed Identifier: 16418263
author list: Schienda J, Engleka KA, Jun S, Hansen MS, Epstein JA, Tabin CJ, Kunkel LM, Kardon G
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Somitic origin of limb muscle satellite and side population cells. Proc Natl Acad Sci U S A. 2006 Jan 24; 103(4):945-50.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2006-01-17T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

beta-dystrobrevin, a new member of the dystrophin family. Identification, cloning, and protein associations.
PubMed Identifier: 9395493
author list: Peters MF, O'Brien KF, Sadoulet-Puccio HM, Kunkel LM, Adams ME, Froehner SC
published in: The Journal of biological chemistry
information resource reference: beta-dystrobrevin, a new member of the dystrophin family. Identification, cloning, and protein associations. J Biol Chem. 1997 Dec 12; 272(50):31561-9.
journal title abbreviation: J Biol Chem
publication date: 1997-12-12T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

High-dose recombinant interleukin 2 therapy for patients with metastatic melanoma: analysis of 270 patients treated between 1985 and 1993.
PubMed Identifier: 10561265
author list: Atkins MB, Lotze MT, Dutcher JP, Fisher RI, Weiss G, Margolin K, Abrams J, Sznol M, Parkinson D, Hawkins M, Paradise C, Kunkel L, Rosenberg SA
published in: Journal of clinical oncology : official journal of the American Society of Clinical Oncology
information resource reference: High-dose recombinant interleukin 2 therapy for patients with metastatic melanoma: analysis of 270 patients treated between 1985 and 1993. J Clin Oncol. 1999 Jul; 17(7):2105-16.
journal title abbreviation: J Clin Oncol
publication date: 1999-07-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

The dystrophin associated protein complex in zebrafish.
PubMed Identifier: 12620966
author list: Guyon JR, Mosley AN, Zhou Y, O'Brien KF, Sheng X, Chiang K, Davidson AJ, Volinski JM, Zon LI, Kunkel LM
published in: Human molecular genetics
information resource reference: The dystrophin associated protein complex in zebrafish. Hum Mol Genet. 2003 Mar 15; 12(6):601-15.
journal title abbreviation: Hum Mol Genet
publication date: 2003-03-15T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Expression profiling and identification of novel genes involved in myogenic differentiation.
PubMed Identifier: 14688207
author list: Tomczak KK, Marinescu VD, Ramoni MF, Sanoudou D, Montanaro F, Han M, Kunkel LM, Kohane IS, Beggs AH
published in: FASEB journal : official publication of the Federation of American Societies for Experimental Biology
information resource reference: Expression profiling and identification of novel genes involved in myogenic differentiation. FASEB J. 2004 Feb; 18(2):403-5.
journal title abbreviation: FASEB J
publication date: 2003-12-19T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Muscle engraftment of myogenic progenitor cells following intraarterial transplantation.
PubMed Identifier: 16634061
author list: Bachrach E, Perez AL, Choi YH, Illigens BM, Jun SJ, del Nido P, McGowan FX, Li S, Flint A, Chamberlain J, Kunkel LM
published in: Muscle & nerve
information resource reference: Muscle engraftment of myogenic progenitor cells following intraarterial transplantation. Muscle Nerve. 2006 Jul; 34(1):44-52.
journal title abbreviation: Muscle Nerve
publication date: 2006-07-01T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Bone marrow side population cells are enriched for progenitors capable of myogenic differentiation.
PubMed Identifier: 18397996
author list: Luth ES, Jun SJ, Wessen MK, Liadaki K, Gussoni E, Kunkel LM
published in: Journal of cell science
information resource reference: Bone marrow side population cells are enriched for progenitors capable of myogenic differentiation. J Cell Sci. 2008 May 01; 121(Pt 9):1426-34.
journal title abbreviation: J Cell Sci
publication date: 2008-04-08T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin.
PubMed Identifier: 18957474
author list: Guyon JR, Goswami J, Jun SJ, Thorne M, Howell M, Pusack T, Kawahara G, Steffen LS, Galdzicki M, Kunkel LM
published in: Human molecular genetics
information resource reference: Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin. Hum Mol Genet. 2009 Jan 01; 18(1):202-11.
journal title abbreviation: Hum Mol Genet
publication date: 2008-10-28T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Comment on "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients".
PubMed Identifier: 19339759
author list: Eran A, Graham KR, Vatalaro K, McCarthy J, Collins C, Peters H, Brewster SJ, Hanson E, Hundley R, Rappaport L, Holm IA, Kohane IS, Kunkel LM
published in: The Journal of clinical investigation
information resource reference: Comment on "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients". J Clin Invest. 2009 Apr; 119(4):679-80; author reply 680-1.
journal title abbreviation: J Clin Invest
publication date: 2009-04-01T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Dystrophin analysis in clonal myoblasts derived from a Duchenne muscular dystrophy carrier.
PubMed Identifier: 2658563
author list: Hurko O, Hoffman EP, McKee L, Johns DR, Kunkel LM
published in: American journal of human genetics
information resource reference: Dystrophin analysis in clonal myoblasts derived from a Duchenne muscular dystrophy carrier. Am J Hum Genet. 1989 Jun; 44(6):820-6.
journal title abbreviation: Am J Hum Genet
publication date: 1989-06-01T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Gene expression profiling of skeletal muscles treated with a soluble activin type IIB receptor.
PubMed Identifier: 21266502
author list: Rahimov F, King OD, Warsing LC, Powell RE, Emerson CP, Kunkel LM, Wagner KR
published in: Physiological genomics
information resource reference: Gene expression profiling of skeletal muscles treated with a soluble activin type IIB receptor. Physiol Genomics. 2011 Apr 27; 43(8):398-407.
journal title abbreviation: Physiol Genomics
publication date: 2011-01-25T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome.
PubMed Identifier: 2877741
author list: van Ommen GJ, Verkerk JM, Hofker MH, Monaco AP, Kunkel LM, Ray P, Worton R, Wieringa B, Bakker E, Pearson PL
published in: Cell
information resource reference: A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome. Cell. 1986 Nov 21; 47(4):499-504.
journal title abbreviation: Cell
publication date: 1986-11-21T00:00:00
year: 1986
type: Academic Article
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type: Document
type: Information Resource

A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function.
PubMed Identifier: 22108603
author list: Homma S, Chen JC, Rahimov F, Beermann ML, Hanger K, Bibat GM, Wagner KR, Kunkel LM, Emerson CP, Miller JB
published in: European journal of human genetics : EJHG
information resource reference: A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function. Eur J Hum Genet. 2012 Apr; 20(4):404-10.
journal title abbreviation: Eur J Hum Genet
publication date: 2011-11-23T00:00:00
year: 2011
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type: Document
type: Information Resource

Dystrophin: the protein product of the Duchene muscular dystrophy locus. 1987.
PubMed Identifier: 1422053
author list: Hoffman EP, Brown RH, Kunkel LM
published in: Biotechnology (Reading, Mass.)
information resource reference: Dystrophin: the protein product of the Duchene muscular dystrophy locus. 1987. Biotechnology. 1992; 24:457-66.
journal title abbreviation: Biotechnology
publication date: 1992-01-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism.
PubMed Identifier: 3003164
author list: Kwan SP, Kunkel L, Bruns G, Wedgwood RJ, Latt S, Rosen FS
published in: The Journal of clinical investigation
information resource reference: Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism. J Clin Invest. 1986 Feb; 77(2):649-52.
journal title abbreviation: J Clin Invest
publication date: 1986-02-01T00:00:00
year: 1986
type: Academic Article
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type: Document
type: Information Resource

Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy.
PubMed Identifier: 23108159
author list: Mitsuhashi H, Mitsuhashi S, Lynn-Jones T, Kawahara G, Kunkel LM
published in: Human molecular genetics
information resource reference: Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy. Hum Mol Genet. 2013 Feb 01; 22(3):568-77.
journal title abbreviation: Hum Mol Genet
publication date: 2012-10-29T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.
PubMed Identifier: 3607877
author list: Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM
published in: Cell
information resource reference: Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell. 1987 Jul 31; 50(3):509-17.
journal title abbreviation: Cell
publication date: 1987-07-31T00:00:00
year: 1987
type: Academic Article
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type: Document
type: Information Resource

(CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein.
PubMed Identifier: 8081380
author list: Khurana TS, Engle EC, Bennett RR, Silverman GA, Selig S, Bruns GA, Kunkel LM
published in: Human molecular genetics
information resource reference: (CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein. Hum Mol Genet. 1994 May; 3(5):841.
journal title abbreviation: Hum Mol Genet
publication date: 1994-05-01T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1.
PubMed Identifier: 1505962
author list: Beggs AH, Phillips HA, Kozman H, Mulley JC, Wilton SD, Kunkel LM, Laing NG
published in: Genomics
information resource reference: A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1. Genomics. 1992 Aug; 13(4):1314-5.
journal title abbreviation: Genomics
publication date: 1992-08-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Transcriptional profile of postmortem skeletal muscle.
PubMed Identifier: 14625377
author list: Sanoudou D, Kang PB, Haslett JN, Han M, Kunkel LM, Beggs AH
published in: Physiological genomics
information resource reference: Transcriptional profile of postmortem skeletal muscle. Physiol Genomics. 2004 Jan 15; 16(2):222-8.
journal title abbreviation: Physiol Genomics
publication date: 2004-01-15T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Side population cells isolated from different tissues share transcriptome signatures and express tissue-specific markers.
PubMed Identifier: 15652349
author list: Liadaki K, Kho AT, Sanoudou D, Schienda J, Flint A, Beggs AH, Kohane IS, Kunkel LM
published in: Experimental cell research
information resource reference: Side population cells isolated from different tissues share transcriptome signatures and express tissue-specific markers. Exp Cell Res. 2005 Feb 15; 303(2):360-74.
journal title abbreviation: Exp Cell Res
publication date: 2004-11-11T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

2004 William Allan Award address. Cloning of the DMD gene.
PubMed Identifier: 15714686
author list: Kunkel LM
published in: American journal of human genetics
information resource reference: 2004 William Allan Award address. Cloning of the DMD gene. Am J Hum Genet. 2005 Feb; 76(2):205-14.
journal title abbreviation: Am J Hum Genet
publication date: 2005-02-01T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

Variations in gene expression among different types of human skeletal muscle.
PubMed Identifier: 15962335
author list: Kang PB, Kho AT, Sanoudou D, Haslett JN, Dow CP, Han M, Blasko JM, Lidov HG, Beggs AH, Kunkel LM
published in: Muscle & nerve
information resource reference: Variations in gene expression among different types of human skeletal muscle. Muscle Nerve. 2005 Oct; 32(4):483-91.
journal title abbreviation: Muscle Nerve
publication date: 2005-10-01T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

Muscular dystrophy research: what have we learned and where do we go from here?
PubMed Identifier: 2003155
author list: Boyce FM, Beggs AH, Kunkel LM
published in: Research publications - Association for Research in Nervous and Mental Disease
information resource reference: Muscular dystrophy research: what have we learned and where do we go from here? Res Publ Assoc Res Nerv Ment Dis. 1991; 69:121-7.
journal title abbreviation: Res Publ Assoc Res Nerv Ment Dis
publication date: 1991-01-01T00:00:00
year: 1991
type: Academic Article
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type: Document
type: Information Resource

Modeling human muscle disease in zebrafish.
PubMed Identifier: 16934958
author list: Guyon JR, Steffen LS, Howell MH, Pusack TJ, Lawrence C, Kunkel LM
published in: Biochimica et biophysica acta
information resource reference: Modeling human muscle disease in zebrafish. Biochim Biophys Acta. 2007 Feb; 1772(2):205-15.
journal title abbreviation: Biochim Biophys Acta
publication date: 2006-07-20T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Identification of a chromosome 6-encoded dystrophin-related protein.
PubMed Identifier: 2170350
author list: Khurana TS, Hoffman EP, Kunkel LM
published in: The Journal of biological chemistry
information resource reference: Identification of a chromosome 6-encoded dystrophin-related protein. J Biol Chem. 1990 Oct 05; 265(28):16717-20.
journal title abbreviation: J Biol Chem
publication date: 1990-10-05T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

The zebrafish runzel muscular dystrophy is linked to the titin gene.
PubMed Identifier: 17678642
author list: Steffen LS, Guyon JR, Vogel ED, Howell MH, Zhou Y, Weber GJ, Zon LI, Kunkel LM
published in: Developmental biology
information resource reference: The zebrafish runzel muscular dystrophy is linked to the titin gene. Dev Biol. 2007 Sep 15; 309(2):180-92.
journal title abbreviation: Dev Biol
publication date: 2007-06-23T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Improved diagnosis of Duchenne/Becker muscular dystrophy.
PubMed Identifier: 1968908
author list: Beggs AH, Kunkel LM
published in: The Journal of clinical investigation
information resource reference: Improved diagnosis of Duchenne/Becker muscular dystrophy. J Clin Invest. 1990 Mar; 85(3):613-9.
journal title abbreviation: J Clin Invest
publication date: 1990-03-01T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular genetics of Duchenne and Becker muscular dystrophy: emphasis on improved diagnosis.
PubMed Identifier: 2663232
author list: Kunkel LM, Beggs AH, Hoffman EP
published in: Clinical chemistry
information resource reference: Molecular genetics of Duchenne and Becker muscular dystrophy: emphasis on improved diagnosis. Clin Chem. 1989 Jul; 35(7 Suppl):B21-4.
journal title abbreviation: Clin Chem
publication date: 1989-07-01T00:00:00
year: 1989
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type: Information Resource

Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families.
PubMed Identifier: 2879924
author list: Bertelson CJ, Bartley JA, Monaco AP, Colletti-Feener C, Fischbeck K, Kunkel LM
published in: Journal of medical genetics
information resource reference: Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families. J Med Genet. 1986 Dec; 23(6):531-7.
journal title abbreviation: J Med Genet
publication date: 1986-12-01T00:00:00
year: 1986
type: Academic Article
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type: Information Resource

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.
PubMed Identifier: 3282674
author list: Koenig M, Monaco AP, Kunkel LM
published in: Cell
information resource reference: The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell. 1988 Apr 22; 53(2):219-28.
journal title abbreviation: Cell
publication date: 1988-04-22T00:00:00
year: 1988
type: Academic Article
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Dystrophin and its isoforms.
PubMed Identifier: 8866745
author list: Sadoulet-Puccio HM, Kunkel LM
published in: Brain pathology (Zurich, Switzerland)
information resource reference: Dystrophin and its isoforms. Brain Pathol. 1996 Jan; 6(1):25-35.
journal title abbreviation: Brain Pathol
publication date: 1996-01-01T00:00:00
year: 1996
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type: Information Resource

The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies.
PubMed Identifier: 8968750
author list: Vainzof M, Passos-Bueno MR, Canovas M, Moreira ES, Pavanello RC, Marie SK, Anderson LV, Bonnemann CG, McNally EM, Nigro V, Kunkel LM, Zatz M
published in: Human molecular genetics
information resource reference: The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Hum Mol Genet. 1996 Dec; 5(12):1963-9.
journal title abbreviation: Hum Mol Genet
publication date: 1996-12-01T00:00:00
year: 1996
type: Academic Article
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type: Document
type: Information Resource

Molecular characterization of Br-cadherin, a developmentally regulated, brain-specific cadherin.
PubMed Identifier: 9122206
author list: Selig S, Lidov HG, Bruno SA, Segal MM, Kunkel LM
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Molecular characterization of Br-cadherin, a developmentally regulated, brain-specific cadherin. Proc Natl Acad Sci U S A. 1997 Mar 18; 94(6):2398-403.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1997-03-18T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Systemic delivery of human microdystrophin to regenerating mouse dystrophic muscle by muscle progenitor cells.
PubMed Identifier: 14993597
author list: Bachrach E, Li S, Perez AL, Schienda J, Liadaki K, Volinski J, Flint A, Chamberlain J, Kunkel LM
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Systemic delivery of human microdystrophin to regenerating mouse dystrophic muscle by muscle progenitor cells. Proc Natl Acad Sci U S A. 2004 Mar 09; 101(10):3581-6.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2004-03-01T00:00:00
year: 2004
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type: Document
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Dystrophin analysis in idiopathic dilated cardiomyopathy.
PubMed Identifier: 8301653
author list: Michels VV, Pastores GM, Moll PP, Driscoll DJ, Miller FA, Burnett JC, Rodeheffer RJ, Tajik JA, Beggs AH, Kunkel LM
published in: Journal of medical genetics
information resource reference: Dystrophin analysis in idiopathic dilated cardiomyopathy. J Med Genet. 1993 Nov; 30(11):955-7.
journal title abbreviation: J Med Genet
publication date: 1993-11-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene.
PubMed Identifier: 3397058
author list: Burmeister M, Monaco AP, Gillard EF, van Ommen GJ, Affara NA, Ferguson-Smith MA, Kunkel LM, Lehrach H
published in: Genomics
information resource reference: A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene. Genomics. 1988 Apr; 2(3):189-202.
journal title abbreviation: Genomics
publication date: 1988-04-01T00:00:00
year: 1988
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Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.
PubMed Identifier: 22841819
author list: Lawlor MW, Alexander MS, Viola MG, Meng H, Joubert R, Gupta V, Motohashi N, Manfready RA, Hsu CP, Huang P, Buj-Bello A, Kunkel LM, Beggs AH, Gussoni E
published in: The American journal of pathology
information resource reference: Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment. Am J Pathol. 2012 Sep; 181(3):961-8.
journal title abbreviation: Am J Pathol
publication date: 2012-07-27T00:00:00
year: 2012
type: Academic Article
type: Article
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type: Information Resource

Dystrophin abnormalities in Duchenne/Becker muscular dystrophy.
PubMed Identifier: 2696500
author list: Hoffman EP, Kunkel LM
published in: Neuron
information resource reference: Dystrophin abnormalities in Duchenne/Becker muscular dystrophy. Neuron. 1989 Jan; 2(1):1019-29.
journal title abbreviation: Neuron
publication date: 1989-01-01T00:00:00
year: 1989
type: Academic Article
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The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.
PubMed Identifier: 2491009
author list: Koenig M, Beggs AH, Moyer M, Scherpf S, Heindrich K, Bettecken T, Meng G, Müller CR, Lindlöf M, Kaariainen H, de la Chapellet A, Kiuru A, Savontaus ML, Gilgenkrantz H, Récan D, Chelly J, Kaplan JC, Covone AE, Archidiacono N, Romeo G, Liechti-Gailati S, Schneider V, Braga S, Moser H, Darras BT, Murphy P, Francke U, Chen JD, Morgan G, Denton M, Greenberg CR, Wrogemann K, Blonden LA, van Paassen MB, van Ommen GJ, Kunkel LM
published in: American journal of human genetics
information resource reference: The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet. 1989 Oct; 45(4):498-506.
journal title abbreviation: Am J Hum Genet
publication date: 1989-10-01T00:00:00
year: 1989
type: Academic Article
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type: Information Resource

The Wellcome lecture, 1988. Muscular dystrophy: a time of hope.
PubMed Identifier: 2569197
author list: Kunkel LM
published in: Proceedings of the Royal Society of London. Series B, Biological sciences
information resource reference: The Wellcome lecture, 1988. Muscular dystrophy: a time of hope. Proc R Soc Lond B Biol Sci. 1989 Jun 22; 237(1286):1-9.
journal title abbreviation: Proc R Soc Lond B Biol Sci
publication date: 1989-06-22T00:00:00
year: 1989
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type: Article
type: Document
type: Information Resource

Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus.
PubMed Identifier: 2648158
author list: Feener CA, Koenig M, Kunkel LM
published in: Nature
information resource reference: Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus. Nature. 1989 Apr 06; 338(6215):509-11.
journal title abbreviation: Nature
publication date: 1989-04-06T00:00:00
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Human adhalin is alternatively spliced and the gene is located on chromosome 17q21.
PubMed Identifier: 7937874
author list: McNally EM, Yoshida M, Mizuno Y, Ozawa E, Kunkel LM
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Human adhalin is alternatively spliced and the gene is located on chromosome 17q21. Proc Natl Acad Sci U S A. 1994 Oct 11; 91(21):9690-4.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1994-10-11T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

Cross-reactive protein in Duchenne muscle.
PubMed Identifier: 2478850
author list: Hoffman EP, Beggs AH, Koenig M, Kunkel LM, Angelini C
published in: Lancet (London, England)
information resource reference: Cross-reactive protein in Duchenne muscle. Lancet. 1989 Nov 18; 2(8673):1211-2.
journal title abbreviation: Lancet
publication date: 1989-11-18T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Development and use of metaphase chromosome flow-sorting methodology to obtain recombinant phage libraries enriched for parts of the human X chromosome.
PubMed Identifier: 6232119
author list: Lalande M, Kunkel LM, Flint A, Latt SA
published in: Cytometry
information resource reference: Development and use of metaphase chromosome flow-sorting methodology to obtain recombinant phage libraries enriched for parts of the human X chromosome. Cytometry. 1984 Mar; 5(2):101-7.
journal title abbreviation: Cytometry
publication date: 1984-03-01T00:00:00
year: 1984
type: Academic Article
type: Article
type: Document
type: Information Resource

Subcellular fractionation of dystrophin to the triads of skeletal muscle.
PubMed Identifier: 2447503
author list: Hoffman EP, Knudson CM, Campbell KP, Kunkel LM
published in: Nature
information resource reference: Subcellular fractionation of dystrophin to the triads of skeletal muscle. Nature. 1987 Dec 24-31; 330(6150):754-8.
journal title abbreviation: Nature
publication date: 1987-12-01T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

Desmuslin, an intermediate filament protein that interacts with alpha -dystrobrevin and desmin.
PubMed Identifier: 11353857
author list: Mizuno Y, Thompson TG, Guyon JR, Lidov HG, Brosius M, Imamura M, Ozawa E, Watkins SC, Kunkel LM
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Desmuslin, an intermediate filament protein that interacts with alpha -dystrobrevin and desmin. Proc Natl Acad Sci U S A. 2001 May 22; 98(11):6156-61.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2001-05-15T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Dystrophin and muscular dystrophy: past, present, and future.
PubMed Identifier: 11592805
author list: O'Brien KF, Kunkel LM
published in: Molecular genetics and metabolism
information resource reference: Dystrophin and muscular dystrophy: past, present, and future. Mol Genet Metab. 2001 Sep-Oct; 74(1-2):75-88.
journal title abbreviation: Mol Genet Metab
publication date: 2001-09-01T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle.
PubMed Identifier: 1822793
author list: Khurana TS, Watkins SC, Chafey P, Chelly J, Tomé FM, Fardeau M, Kaplan JC, Kunkel LM
published in: Neuromuscular disorders : NMD
information resource reference: Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle. Neuromuscul Disord. 1991; 1(3):185-94.
journal title abbreviation: Neuromuscul Disord
publication date: 1991-01-01T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation.
PubMed Identifier: 14678800
author list: Kefi M, Amouri R, Driss A, Ben Hamida C, Ben Hamida M, Kunkel LM, Hentati F
published in: Neuromuscular disorders : NMD
information resource reference: Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation. Neuromuscul Disord. 2003 Dec; 13(10):779-87.
journal title abbreviation: Neuromuscul Disord
publication date: 2003-12-01T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

In vitro expressed dystrophin fragments do not associate with each other.
PubMed Identifier: 9237620
author list: Chan Y, Kunkel LM
published in: FEBS letters
information resource reference: In vitro expressed dystrophin fragments do not associate with each other. FEBS Lett. 1997 Jun 30; 410(2-3):153-9.
journal title abbreviation: FEBS Lett
publication date: 1997-06-30T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Caveolin-3 deficiency as a cause of limb-girdle muscular dystrophy.
PubMed Identifier: 10223848
author list: Kunkel L
published in: Journal of child neurology
information resource reference: Caveolin-3 deficiency as a cause of limb-girdle muscular dystrophy. J Child Neurol. 1999 Jan; 14(1):33-4.
journal title abbreviation: J Child Neurol
publication date: 1999-01-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics.
PubMed Identifier: 9731538
author list: Scharf JM, Endrizzi MG, Wetter A, Huang S, Thompson TG, Zerres K, Dietrich WF, Wirth B, Kunkel LM
published in: Nature genetics
information resource reference: Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. Nat Genet. 1998 Sep; 20(1):83-6.
journal title abbreviation: Nat Genet
publication date: 1998-09-01T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular genetics of Duchenne muscular dystrophy.
PubMed Identifier: 3472731
author list: Kunkel LM, Monaco AP, Bertelson CJ, Colletti CA
published in: Cold Spring Harbor symposia on quantitative biology
information resource reference: Molecular genetics of Duchenne muscular dystrophy. Cold Spring Harb Symp Quant Biol. 1986; 51 Pt 1:349-51.
journal title abbreviation: Cold Spring Harb Symp Quant Biol
publication date: 1986-01-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

The genomic organization of human dystrobrevin.
PubMed Identifier: 10735273
author list: Sadoulet-Puccio HM, Feener CA, Schaid DJ, Thibodeau SN, Michels VV, Kunkel LM
published in: Neurogenetics
information resource reference: The genomic organization of human dystrobrevin. Neurogenetics. 1997 May; 1(1):37-42.
journal title abbreviation: Neurogenetics
publication date: 1997-05-01T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

The genetics of exceptional human longevity.
PubMed Identifier: 12212788
author list: Perls T, Kunkel LM, Puca AA
published in: Journal of molecular neuroscience : MN
information resource reference: The genetics of exceptional human longevity. J Mol Neurosci. 2002 Aug-Oct; 19(1-2):233-8.
journal title abbreviation: J Mol Neurosci
publication date: 2002-08-01T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Haplotype-based identification of a microsomal transfer protein marker associated with the human lifespan.
PubMed Identifier: 14615589
author list: Geesaman BJ, Benson E, Brewster SJ, Kunkel LM, Blanché H, Thomas G, Perls TT, Daly MJ, Puca AA
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Haplotype-based identification of a microsomal transfer protein marker associated with the human lifespan. Proc Natl Acad Sci U S A. 2003 Nov 25; 100(24):14115-20.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2003-11-13T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

The concomitant use of dystrophin and utrophin/dystrophin related protein antibodies to reduce misdiagnosis of Duchenne/Becker muscular dystrophy.
PubMed Identifier: 9425255
author list: Khurana TS, Specht LA, Beggs AH, Tomé FM, Letureq F, Chevallay M, Chafey P, Kunkel LM
published in: Biochemical and biophysical research communications
information resource reference: The concomitant use of dystrophin and utrophin/dystrophin related protein antibodies to reduce misdiagnosis of Duchenne/Becker muscular dystrophy. Biochem Biophys Res Commun. 1997 Dec 18; 241(2):232-5.
journal title abbreviation: Biochem Biophys Res Commun
publication date: 1997-12-18T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource