Lacy SE, Bönnemann CG, Buzney EA, Kunkel LM
Identification of FLRT1, FLRT2, and FLRT3: a novel family of transmembrane leucine-rich repeat proteins. Genomics. 1999 Dec 15; 62(3):417-26.
Identification of FLRT1, FLRT2, and FLRT3: a novel family of transmembrane leucine-rich repeat proteins.
Perls T, Shea-Drinkwater M, Bowen-Flynn J, Ridge SB, Kang S, Joyce E, Daly M, Brewster SJ, Kunkel L, Puca AA
Journal of the American Geriatrics Society
Exceptional familial clustering for extreme longevity in humans. J Am Geriatr Soc. 2000 Nov; 48(11):1483-5.
Exceptional familial clustering for extreme longevity in humans.
Sebastiani P, Lazarus R, Weiss ST, Kunkel LM, Kohane IS, Ramoni MF
Proceedings of the National Academy of Sciences of the United States of America
Minimal haplotype tagging. Proc Natl Acad Sci U S A. 2003 Aug 19; 100(17):9900-5.
Khurana TS, Prendergast RA, Alameddine HS, Tomé FM, Fardeau M, Arahata K, Sugita H, Kunkel LM
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.
Absence of extraocular muscle pathology in Duchenne's muscular dystrophy: role for calcium homeostasis in extraocular muscle sparing.
Guyon JR, Mosley AN, Jun SJ, Montanaro F, Steffen LS, Zhou Y, Nigro V, Zon LI, Kunkel LM
Delta-sarcoglycan is required for early zebrafish muscle organization. Exp Cell Res. 2005 Mar 10; 304(1):105-15.
Delta-sarcoglycan is required for early zebrafish muscle organization.
Watkins SC, Hoffman EP, Slayter HS, Kunkel LM
Dystrophin distribution in heterozygote MDX mice. Muscle Nerve. 1989 Oct; 12(10):861-8.
Dystrophin distribution in heterozygote MDX mice.
Royer-Pokora B, Kunkel LM, Monaco AP, Goff SC, Newburger PE, Baehner RL, Cole FS, Curnutte JT, Orkin SH
Cold Spring Harbor symposia on quantitative biology
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.
Cloning the gene for the inherited disorder chronic granulomatous disease on the basis of its chromosomal location.
Monaco AP, Neve RL, Colletti-Feener C, Bertelson CJ, Kurnit DM, Kunkel LM
Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature. 1986 Oct 16-22; 323(6089):646-50.
Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene.
Gussoni E, Wang Y, Fraefel C, Miller RG, Blau HM, Geller AI, Kunkel LM
A method to codetect introduced genes and their products in gene therapy protocols. Nat Biotechnol. 1996 Aug; 14(8):1012-6.
A method to codetect introduced genes and their products in gene therapy protocols.
Bönnemann CG, Wong J, Ben Hamida C, Hamida MB, Hentati F, Kunkel LM
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.
LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3.
Takano A, Bönnemann CG, Honda H, Sakai M, Feener CA, Kunkel LM, Sobue G
Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations. Muscle Nerve. 2000 May; 23(5):807-10.
Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations.
McNally EM, Bönnemann CG, Kunkel LM, Bhattacharya SK
Deficiency of adhalin in a patient with muscular dystrophy and cardiomyopathy. N Engl J Med. 1996 Jun 13; 334(24):1610-1.
Deficiency of adhalin in a patient with muscular dystrophy and cardiomyopathy.
Bönnemann CG, Wong J, Jones KJ, Lidov HG, Feener CA, Shapiro F, Darras BT, Kunkel LM, North KN
Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile. Neuromuscul Disord. 2002 Mar; 12(3):273-80.
Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile.
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
Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy. Muscle Nerve. 2010 Jun; 41(6):746-50.
Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy.
Carpenter JL, Hoffman EP, Romanul FC, Kunkel LM, Rosales RK, Ma NS, Dasbach JJ, Rae JF, Moore FM, McAfee MB
Feline muscular dystrophy with dystrophin deficiency. Am J Pathol. 1989 Nov; 135(5):909-19.
Feline muscular dystrophy with dystrophin deficiency.
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
Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes. BMC Genet. 2009 Oct 18; 10:66.
Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.
Duchenne/Becker muscular dystrophy: a short overview of the gene, the protein, and current diagnostics. Br Med Bull. 1989 Jul; 45(3):630-43.
Duchenne/Becker muscular dystrophy: a short overview of the gene, the protein, and current diagnostics.
Boyden SE, Duncan AR, Estrella EA, Lidov HG, Mahoney LJ, Katz JS, Kunkel LM, Kang PB
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.
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.
Kunkel LM, Monaco AP, Middlesworth W, Ochs HD, Latt SA
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.
Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.
Proteolytic fragment or new gene product? Nature. 1988 Nov 17; 336(6196):210.
Proteolytic fragment or new gene product?
Bertelson CJ, Pogo AO, Chaudhuri A, Marsh WL, Redman CM, Banerjee D, Symmans WA, Simon T, Frey D, Kunkel LM
Localization of the McLeod locus (XK) within Xp21 by deletion analysis. Am J Hum Genet. 1988 May; 42(5):703-11.
Localization of the McLeod locus (XK) within Xp21 by deletion analysis.
Dp140: a novel 140 kDa CNS transcript from the dystrophin locus. Hum Mol Genet. 1995 Mar; 4(3):329-35.
Dp140: a novel 140 kDa CNS transcript from the dystrophin locus.
Advances in experimental medicine and biology
The dilemma of manifesting carriers in the context of myoblast transplantation. Adv Exp Med Biol. 1990; 280:285-6.
The dilemma of manifesting carriers in the context of myoblast transplantation.
Mizuno Y, Guyon JR, Okamoto K, Kunkel LM
Synemin expression in brain. Muscle Nerve. 2007 Oct; 36(4):497-504.
Mallory LA, Shaw JG, Burgess SL, Estrella E, Nurko S, Burpee TM, Agus MS, Darras BT, Kunkel LM, Kang PB
Congenital myasthenic syndrome with episodic apnea. Pediatr Neurol. 2009 Jul; 41(1):42-5.
Congenital myasthenic syndrome with episodic apnea.
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
CXCR4 enhances engraftment of muscle progenitor cells. Muscle Nerve. 2009 Oct; 40(4):562-72.
CXCR4 enhances engraftment of muscle progenitor cells.
High-density genomewide linkage analysis of exceptional human longevity identifies multiple novel loci. PLoS One. 2010 Aug 31; 5(8):e12432.
High-density genomewide linkage analysis of exceptional human longevity identifies multiple novel loci.
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
Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders. PLoS One. 2012; 7(12):e49475.
Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders.
Montanaro F, Liadaki K, Schienda J, Flint A, Gussoni E, Kunkel LM
Demystifying SP cell purification: viability, yield, and phenotype are defined by isolation parameters. Exp Cell Res. 2004 Aug 01; 298(1):144-54.
Demystifying SP cell purification: viability, yield, and phenotype are defined by isolation parameters.
Langenau DM, Keefe MD, Storer NY, Guyon JR, Kutok JL, Le X, Goessling W, Neuberg DS, Kunkel LM, Zon LI
Effects of RAS on the genesis of embryonal rhabdomyosarcoma. Genes Dev. 2007 Jun 01; 21(11):1382-95.
Effects of RAS on the genesis of embryonal rhabdomyosarcoma.
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
Distinctive patterns of microRNA expression in primary muscular disorders. Proc Natl Acad Sci U S A. 2007 Oct 23; 104(43):17016-21.
Distinctive patterns of microRNA expression in primary muscular disorders.
de Paula F, Vainzof M, Bernardino AL, McNally E, Kunkel LM, Zatz M
Mutations in the caveolin-3 gene: When are they pathogenic? Am J Med Genet. 2001 Apr 01; 99(4):303-7.
Mutations in the caveolin-3 gene: When are they pathogenic?
Esses D, Gallagher EJ, Iannaccone R, Bijur P, Srinivas VS, Rose H, Kunkel L, Sokolof J
The American journal of emergency medicine
Six-hour versus 12-hour protocols for AMI: CK-MB in conjunction with myoglobin. Am J Emerg Med. 2001 May; 19(3):182-6.
Six-hour versus 12-hour protocols for AMI: CK-MB in conjunction with myoglobin.
Haslett JN, Sanoudou D, Kho AT, Bennett RR, Greenberg SA, Kohane IS, Beggs AH, Kunkel LM
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.
Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle.
Sanoudou D, Haslett JN, Kho AT, Guo S, Gazda HT, Greenberg SA, Lidov HG, Kohane IS, Kunkel LM, Beggs AH
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.
Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle.
Kunkel LM, Monaco AP, Hoffman E, Koenig M, Feener C, Bertelson C
Molecular studies of progressive muscular dystrophy (Duchenne). Enzyme. 1987; 38(1-4):72-5.
Molecular studies of progressive muscular dystrophy (Duchenne).
Widrick JJ, Gibbs DE, Sanchez B, Gupta VA, Pakula A, Lawrence C, Beggs AH, Kunkel LM
An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish. PLoS One. 2018; 13(6):e0199712.
An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish.
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
Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science. 1995 Nov 03; 270(5237):819-22.
Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.
Hoffman EP, Monaco AP, Feener CC, Kunkel LM
Conservation of the Duchenne muscular dystrophy gene in mice and humans. Science. 1987 Oct 16; 238(4825):347-50.
Conservation of the Duchenne muscular dystrophy gene in mice and humans.
Alexander MS, Kawahara G, Kho AT, Howell MH, Pusack TJ, Myers JA, Montanaro F, Zon LI, Guyon JR, Kunkel LM
Isolation and transcriptome analysis of adult zebrafish cells enriched for skeletal muscle progenitors. Muscle Nerve. 2011 May; 43(5):741-50.
Isolation and transcriptome analysis of adult zebrafish cells enriched for skeletal muscle progenitors.
Marchini GS, Onal B, Guo CY, Rowe CK, Kunkel L, Bauer SB, Retik AB, Nguyen HT
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.
Genome gender diversity in affected sib-pairs with familial vesico-ureteric reflux identified by single nucleotide polymorphism linkage analysis.
Liadaki K, Casar JC, Wessen M, Luth ES, Jun S, Gussoni E, Kunkel LM
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society
ß4 integrin marks interstitial myogenic progenitor cells in adult murine skeletal muscle. J Histochem Cytochem. 2012 Jan; 60(1):31-44.
ß4 integrin marks interstitial myogenic progenitor cells in adult murine skeletal muscle.
The cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy. J Cell Biol. 2013 May 13; 201(4):499-510.
The cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy.
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.
Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility.
Journal of cellular and molecular medicine
miRNAS in normal and diseased skeletal muscle. J Cell Mol Med. 2009 Jan; 13(1):2-11.
miRNAS in normal and diseased skeletal muscle.
Gupta V, Kawahara G, Gundry SR, Chen AT, Lencer WI, Zhou Y, Zon LI, Kunkel LM, Beggs AH
The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies. Hum Mol Genet. 2011 May 01; 20(9):1712-25.
The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies.
Chamberlain JS, Grant SG, Reeves AA, Mullins LJ, Stephenson DA, Hoffman EP, Monaco AP, Kunkel LM, Caskey CT, Chapman VM
Regional localization of the murine Duchenne muscular dystrophy gene on the mouse X chromosome. Somat Cell Mol Genet. 1987 Nov; 13(6):671-8.
Regional localization of the murine Duchenne muscular dystrophy gene on the mouse X chromosome.
Immunoelectron microscopic localization of dystrophin in myofibres. Nature. 1988 Jun 30; 333(6176):863-6.
Immunoelectron microscopic localization of dystrophin in myofibres.
Aldridge J, Kunkel L, Bruns G, Tantravahi U, Lalande M, Brewster T, Moreau E, Wilson M, Bromley W, Roderick T
A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet. 1984 May; 36(3):546-64.
A strategy to reveal high-frequency RFLPs along the human X chromosome.
Gupta V, Discenza M, Guyon JR, Kunkel LM, Beggs AH
FASEB journal : official publication of the Federation of American Societies for Experimental Biology
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.
a-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by a-actinin-3 revealing functional differences between sarcomeric isoforms.
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
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.
The impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
A small deletion in the Duchenne/Becker muscular dystrophy locus--a functionally important region? Hum Genet. 1987 Sep; 77(1):88-91.
A small deletion in the Duchenne/Becker muscular dystrophy locus--a functionally important region?
Selig S, Bruno S, Scharf JM, Wang CH, Vitale E, Gilliam TC, Kunkel LM
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.
Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene.
Ahn AH, Yoshida M, Anderson MS, Feener CA, Selig S, Hagiwara Y, Ozawa E, Kunkel LM
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.
Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24.
Hoffman EP, Watkins SC, Slayter HS, Kunkel LM
Detection of a specific isoform of alpha-actinin with antisera directed against dystrophin. J Cell Biol. 1989 Feb; 108(2):503-10.
Detection of a specific isoform of alpha-actinin with antisera directed against dystrophin.
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
Efficient identification of novel mutations in patients with limb girdle muscular dystrophy. Neurogenetics. 2010 Oct; 11(4):449-55.
Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.
Alexander MS, Casar JC, Motohashi N, Myers JA, Eisenberg I, Gonzalez RT, Estrella EA, Kang PB, Kawahara G, Kunkel LM
Regulation of DMD pathology by an ankyrin-encoded miRNA. Skelet Muscle. 2011 Aug 08; 1:27.
Regulation of DMD pathology by an ankyrin-encoded miRNA.
Kawahara G, Serafini PR, Myers JA, Alexander MS, Kunkel LM
Biochemical and biophysical research communications
Characterization of zebrafish dysferlin by morpholino knockdown. Biochem Biophys Res Commun. 2011 Sep 23; 413(2):358-63.
Characterization of zebrafish dysferlin by morpholino knockdown.
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
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics. 2012 May; 13(2):115-24.
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
Gupta VA, Kawahara G, Myers JA, Chen AT, Hall TE, Manzini MC, Currie PD, Zhou Y, Zon LI, Kunkel LM, Beggs AH
A splice site mutation in laminin-a2 results in a severe muscular dystrophy and growth abnormalities in zebrafish. PLoS One. 2012; 7(8):e43794.
A splice site mutation in laminin-a2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.
Expression of synemin in the mouse spinal cord. Muscle Nerve. 2009 May; 39(5):634-41.
Expression of synemin in the mouse spinal cord.
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
A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies. JCI Insight. 2018 09 20; 3(18).
A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies.
Kawahara G, Karpf JA, Myers JA, Alexander MS, Guyon JR, Kunkel LM
Drug screening in a zebrafish model of Duchenne muscular dystrophy. Proc Natl Acad Sci U S A. 2011 Mar 29; 108(13):5331-6.
Drug screening in a zebrafish model of Duchenne muscular dystrophy.
Cloning of the Duchenne/Becker muscular dystrophy locus. Adv Hum Genet. 1988; 17:61-98.
Cloning of the Duchenne/Becker muscular dystrophy locus.
Borgaonkar DS, Bias WB, Chase GA, Sadasivan G, Herr HM, Golomb HM, Bahr GF, Kunkel LM
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.
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.
Byers TJ, Beggs AH, McNally EM, Kunkel LM
Novel actin crosslinker superfamily member identified by a two step degenerate PCR procedure. FEBS Lett. 1995 Jul 24; 368(3):500-4.
Novel actin crosslinker superfamily member identified by a two step degenerate PCR procedure.
Ahn AH, Freener CA, Gussoni E, Yoshida M, Ozawa E, Kunkel LM
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.
The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives.
Mizuno Y, Guyon JR, Ishii A, Hoshino S, Ohkoshi N, Tamaoka A, Okamoto K, Kunkel LM
Beta-synemin expression in cardiotoxin-injected rat skeletal muscle. BMC Musculoskelet Disord. 2007 May 10; 8:40.
Beta-synemin expression in cardiotoxin-injected rat skeletal muscle.
Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987 Dec 24; 51(6):919-28.
Dystrophin: the protein product of the Duchenne muscular dystrophy locus.
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
Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis. Hum Mol Genet. 2019 01 15; 28(2):320-331.
Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis.
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
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.
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
Accurate and superaccurate gene mapping. Am J Hum Genet. 1985 Sep; 37(5):853-67.
Accurate and superaccurate gene mapping.
The molecular and biochemical basis of Duchenne muscular dystrophy. Trends Biochem Sci. 1992 Aug; 17(8):289-92.
The molecular and biochemical basis of Duchenne muscular dystrophy.
Hoffman EP, Hudecki MS, Rosenberg PA, Pollina CM, Kunkel LM
Cell and fiber-type distribution of dystrophin. Neuron. 1988 Jul; 1(5):411-20.
Cell and fiber-type distribution of dystrophin.
Ljunggren A, Duggan D, McNally E, Boylan KB, Gama CH, Kunkel LM, Hoffman EP
Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin. Ann Neurol. 1995 Sep; 38(3):367-72.
Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin.
The structural and functional diversity of dystrophin. Nat Genet. 1993 Apr; 3(4):283-91.
The structural and functional diversity of dystrophin.
Analysis of human sarcospan as a candidate gene for CFEOM1. BMC Genet. 2001; 2:3.
Analysis of human sarcospan as a candidate gene for CFEOM1.
Greenberg SA, Sanoudou D, Haslett JN, Kohane IS, Kunkel LM, Beggs AH, Amato AA
Molecular profiles of inflammatory myopathies. Neurology. 2002 Oct 22; 59(8):1170-82.
Molecular profiles of inflammatory myopathies.
Transcriptome-scale similarities between mouse and human skeletal muscles with normal and myopathic phenotypes. BMC Musculoskelet Disord. 2006 Mar 07; 7:23.
Transcriptome-scale similarities between mouse and human skeletal muscles with normal and myopathic phenotypes.
An alternative dystrophin transcript specific to peripheral nerve. Nat Genet. 1993 May; 4(1):77-81.
An alternative dystrophin transcript specific to peripheral nerve.
Dalkilic I, Schienda J, Thompson TG, Kunkel LM
Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure. Mol Cell Biol. 2006 Sep; 26(17):6522-34.
Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure.
Syntrophin binds to an alternatively spliced exon of dystrophin. J Cell Biol. 1995 Feb; 128(3):363-71.
Syntrophin binds to an alternatively spliced exon of dystrophin.
Guo WX, Antakly T, Cadotte M, Kachra Z, Kunkel L, Masood R, Gill P
Expression and cytokine regulation of glucocorticoid receptors in Kaposi's sarcoma. Am J Pathol. 1996 Jun; 148(6):1999-2008.
Expression and cytokine regulation of glucocorticoid receptors in Kaposi's sarcoma.
Kohane IS, Mandl KD, Taylor PL, Holm IA, Nigrin DJ, Kunkel LM
Medicine. Reestablishing the researcher-patient compact. Science. 2007 May 11; 316(5826):836-7.
Medicine. Reestablishing the researcher-patient compact.
Hodgson S, Hart K, Walker A, Cole C, Johnson L, Bobrow M, Dubowitz V, Kunkel L
DNA deletion in boy with Becker muscular dystrophy. Lancet. 1986 Apr 19; 1(8486):918.
DNA deletion in boy with Becker muscular dystrophy.
Monaco AP, Bertelson CJ, Colletti-Feener C, Kunkel LM
Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy. Hum Genet. 1987 Mar; 75(3):221-7.
Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy.
Kwan SP, Sandkuyl LA, Blaese M, Kunkel LM, Bruns G, Parmley R, Skarshaug S, Page DC, Ott J, Rosen FS
Genetic mapping of the Wiskott-Aldrich syndrome with two highly-linked polymorphic DNA markers. Genomics. 1988 Jul; 3(1):39-43.
Genetic mapping of the Wiskott-Aldrich syndrome with two highly-linked polymorphic DNA markers.
Rahimov F, King OD, Leung DG, Bibat GM, Emerson CP, Kunkel LM, Wagner KR
Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers. Proc Natl Acad Sci U S A. 2012 Oct 02; 109(40):16234-9.
Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers.
Knudson CM, Hoffman EP, Kahl SD, Kunkel LM, Campbell KP
Evidence for the association of dystrophin with the transverse tubular system in skeletal muscle. J Biol Chem. 1988 Jun 15; 263(17):8480-4.
Evidence for the association of dystrophin with the transverse tubular system in skeletal muscle.
Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics. 1988 Jan; 2(1):90-5.
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.
Expression of the Duchenne's muscular dystrophy gene in cultured muscle cells. J Biol Chem. 1987 Nov 25; 262(33):15817-20.
Expression of the Duchenne's muscular dystrophy gene in cultured muscle cells.
Khurana TS, Kunkel LM, Frederickson AD, Carbonetto S, Watkins SC
Interaction of chromosome-6-encoded dystrophin related protein with the extracellular matrix. J Cell Sci. 1995 Jan; 108 ( Pt 1):173-85.
Interaction of chromosome-6-encoded dystrophin related protein with the extracellular matrix.
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
Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. Hum Mol Genet. 1996 Nov; 5(11):1841-7.
Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy.
Beyond dystrophin: current progress in the muscular dystrophies. Curr Opin Pediatr. 1996 Dec; 8(6):569-82.
Beyond dystrophin: current progress in the muscular dystrophies.
Laing NG, Majda BT, Akkari PA, Layton MG, Mulley JC, Phillips H, Haan EA, White SJ, Beggs AH, Kunkel LM
Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I. Am J Hum Genet. 1992 Mar; 50(3):576-83.
Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I.
Dystrophin mRNA in lyophilized tissue. Nature. 1992 Feb 27; 355(6363):778.
Atkins MB, Kunkel L, Sznol M, Rosenberg SA
The cancer journal from Scientific American
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.
High-dose recombinant interleukin-2 therapy in patients with metastatic melanoma: long-term survival update.
Saleh MN, Gutheil J, Moore M, Bunch PW, Butler J, Kunkel L, Grillo-López AJ, LoBuglio AF
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.
A pilot study of the anti-CD20 monoclonal antibody rituximab in patients with refractory immune thrombocytopenia.
Genome-wide CRISPR screen to identify pro-myogenic factors for cell therapy of DMD
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Dystrophin is transcribed in brain from a distant upstream promoter.
Richards CS, Watkins SC, Hoffman EP, Schneider NR, Milsark IW, Katz KS, Cook JD, Kunkel LM, Cortada JM
Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. Am J Hum Genet. 1990 Apr; 46(4):672-81.
Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy.
Darras BT, Koenig M, Kunkel LM, Francke U
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.
Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA.
Kohane IS, McMurry A, Weber G, MacFadden D, Rappaport L, Kunkel L, Bickel J, Wattanasin N, Spence S, Murphy S, Churchill S
The co-morbidity burden of children and young adults with autism spectrum disorders. PLoS One. 2012; 7(4):e33224.
The co-morbidity burden of children and young adults with autism spectrum disorders.
Jones TI, Chen JC, Rahimov F, Homma S, Arashiro P, Beermann ML, King OD, Miller JB, Kunkel LM, Emerson CP, Wagner KR, Jones PL
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.
Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis.
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
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.
Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites.
Rosalind Franklin, PhD Professor of Pediatrics
Sir Edwin and Lady Manton Professor of Pediatrics
Marion V. Nelson Professor of Biomedical Informatics
Nancy Lurie Marks Professor of Neurology
Professor of Stem Cell and Regenerative Biology and Grousbeck Professor of Pediatrics, Harvard Medical School
Widrick JJ, Kawahara G, Alexander MS, Beggs AH, Kunkel LM
Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens. J Neuromuscul Dis. 2019; 6(3):271-287.
Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens.
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
Concordance between gene expression in peripheral whole blood and colonic tissue in children with inflammatory bowel disease. PLoS One. 2019; 14(10):e0222952.
Concordance between gene expression in peripheral whole blood and colonic tissue in children with inflammatory bowel disease.
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
Molecular therapy : the journal of the American Society of Gene Therapy
The SINE Compound KPT-350 Blocks Dystrophic Pathologies in DMD Zebrafish and Mice. Mol Ther. 2020 01 08; 28(1):189-201.
The SINE Compound KPT-350 Blocks Dystrophic Pathologies in DMD Zebrafish and Mice.
Genetic analysis of Duchenne dystrophy. Adv Exp Med Biol. 1985; 182:287-94.
To dystrophin and beyond: an interview with Louis Kunkel. Dis Model Mech. 2019 12 12; 13(2).
To dystrophin and beyond: an interview with Louis Kunkel.
Hoh CK, Glaspy J, Rosen P, Dahlbom M, Lee SJ, Kunkel L, Hawkin RA, Maddahi J, Phelps ME
Journal of nuclear medicine : official publication, Society of Nuclear Medicine
Whole-body FDG-PET imaging for staging of Hodgkin's disease and lymphoma. J Nucl Med. 1997 Mar; 38(3):343-8.
Whole-body FDG-PET imaging for staging of Hodgkin's disease and lymphoma.
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
Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy. Sci Transl Med. 2020 03 25; 12(536).
Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy.
Spinazzola JM, Lambert MR, Gibbs DE, Conner JR, Krikorian GL, Pareek P, Rago C, Kunkel LM
Effect of serotonin modulation on dystrophin-deficient zebrafish. Biol Open. 2020 08 28; 9(8).
Effect of serotonin modulation on dystrophin-deficient zebrafish.
Lambert MR, Spinazzola JM, Widrick JJ, Pakula A, Conner JR, Chin JE, Owens JM, Kunkel LM
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.
PDE10A Inhibition Reduces the Manifestation of Pathology in DMD Zebrafish and Represses the Genetic Modifier PITPNA.
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
POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun. 2021 02 18; 12(1):1135.
POLRMT mutations impair mitochondrial transcription causing neurological disease.
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
hnRNP L is essential for myogenic differentiation and modulates myotonic dystrophy pathologies. Muscle Nerve. 2021 06; 63(6):928-940.
hnRNP L is essential for myogenic differentiation and modulates myotonic dystrophy pathologies.
Effect of serotonin modulation on dystrophin-deficient zebrafish. Biol Open. 2020 Jan 01.
Wang R, Kumar B, Doud EH, Mosley AL, Alexander MS, Kunkel LM, Nakshatri H
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.
Skeletal muscle-specific overexpression of miR-486 limits mammary tumor-induced skeletal muscle functional limitations.
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
Annals of clinical and translational neurology
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy. Ann Clin Transl Neurol. 2022 08; 9(8):1302-1309.
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.
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.
Erratum: Skeletal muscle-specific overexpression of miR-486 limits mammary tumor-induced skeletal muscle functional limitations.
Shelton GD, Minor KM, Vieira NM, Kunkel LM, Friedenberg SG, Cullen JN, Guo LT, Zatz M, Mickelson JR
Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype. Neuromuscul Disord. 2022 10; 32(10):836-841.
Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype.
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
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy. Acta Neuropathol. 2023 04; 145(4):479-496.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
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
Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort. Adv Genet (Hoboken). 2023 Mar; 4(1):2200013.
Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort.
Widrick JJ, Lambert MR, Kunkel LM, Beggs AH
Optimizing assays of zebrafish larvae swimming performance for drug discovery. Expert Opin Drug Discov. 2023 06; 18(6):629-641.
Optimizing assays of zebrafish larvae swimming performance for drug discovery.
Canadian journal of genetics and cytology. Journal canadien de genetique et de cytologie
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.
The proportion of all point mutations which are unacceptable: an estimate based on hemoglobin amino acid and nucleotide sequences.
Corrigendium: Effects of RAS on the genesis of embryonal rhabdomyosarcoma. Genes Dev. 2024 Mar 01; 38(5-6):289.
Corrigendium: Effects of RAS on the genesis of embryonal rhabdomyosarcoma.
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
bioRxiv : the preprint server for biology
Effects of HMGCR deficiency on skeletal muscle development. bioRxiv. 2024 May 08.
Effects of HMGCR deficiency on skeletal muscle development.
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
Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy. Muscle Nerve. 2024 Oct; 70(4):843-850.
Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.
Boyd Y, Munro E, Ray P, Worton R, Monaco T, Kunkel L, Craig I
Molecular heterogeneity of translocations associated with muscular dystrophy. Clin Genet. 1987 Apr; 31(4):265-72.
Molecular heterogeneity of translocations associated with muscular dystrophy.
Motohashi N, Alexander MS, Shimizu-Motohashi Y, Myers JA, Kawahara G, Kunkel LM
Regulation of IRS1/Akt insulin signaling by microRNA-128a during myogenesis. J Cell Sci. 2013 Jun 15; 126(Pt 12):2678-91.
Regulation of IRS1/Akt insulin signaling by microRNA-128a during myogenesis.
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
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.
MicroRNA-199a is induced in dystrophic muscle and affects WNT signaling, cell proliferation, and myogenic differentiation.
Vardarajan BN, Eran A, Jung JY, Kunkel LM, Wall DP
Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder. Transl Psychiatry. 2013 May 28; 3:e262.
Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder.
Kong SW, Shimizu-Motohashi Y, Campbell MG, Lee IH, Collins CD, Brewster SJ, Holm IA, Rappaport L, Kohane IS, Kunkel LM
Peripheral blood gene expression signature differentiates children with autism from unaffected siblings. Neurogenetics. 2013 May; 14(2):143-52.
Peripheral blood gene expression signature differentiates children with autism from unaffected siblings.
Widrick JJ, Lambert MR, de Souza Leite F, Jung YL, Park J, Conner JR, Lee EA, Beggs AH, Kunkel LM
High resolution kinematic approach for quantifying impaired mobility of dystrophic zebrafish larvae. bioRxiv. 2024 Dec 09.
High resolution kinematic approach for quantifying impaired mobility of dystrophic zebrafish larvae.
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
Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development. FEBS J. 2025 Sep; 292(18):4854-4869.
Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development.
Mitsuhashi S, Boyden SE, Estrella EA, Jones TI, Rahimov F, Yu TW, Darras BT, Amato AA, Folkerth RD, Jones PL, Kunkel LM, Kang PB
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. Neuromuscul Disord. 2013 Dec; 23(12):975-80.
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.
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
Conditional Dystrophin ablation in the skeletal muscle and brain causes profound effects on muscle function, neurobehavior, and extracellular matrix pathways. bioRxiv. 2025 Feb 09.
Conditional Dystrophin ablation in the skeletal muscle and brain causes profound effects on muscle function, neurobehavior, and extracellular matrix pathways.
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
medRxiv : the preprint server for health sciences
Interstitial Cystitis: a phenotype and rare variant exome sequencing study: Interstitial Cystitis: a phenotype and exome sequencing study. medRxiv. 2025 Feb 18.
Interstitial Cystitis: a phenotype and rare variant exome sequencing study: Interstitial Cystitis: a phenotype and exome sequencing study.
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
Muscle-specific increased expression of JAG1 improves skeletal muscle phenotype in dystrophin-deficient mice. bioRxiv. 2025 Mar 14.
Muscle-specific increased expression of JAG1 improves skeletal muscle phenotype in dystrophin-deficient mice.
Kawahara G, Gasperini MJ, Myers JA, Widrick JJ, Eran A, Serafini PR, Alexander MS, Pletcher MT, Morris CA, Kunkel LM
Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling. Hum Mol Genet. 2014 Apr 01; 23(7):1869-78.
Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling.
Zhang Y, King OD, Rahimov F, Jones TI, Ward CW, Kerr JP, Liu N, Emerson CP, Kunkel LM, Partridge TA, Wagner KR
Human skeletal muscle xenograft as a new preclinical model for muscle disorders. Hum Mol Genet. 2014 Jun 15; 23(12):3180-8.
Human skeletal muscle xenograft as a new preclinical model for muscle disorders.
Balasubramanian A, Kawahara G, Gupta VA, Rozkalne A, Beauvais A, Kunkel LM, Gussoni E
Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation. FASEB J. 2014 Jul; 28(7):2955-69.
Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation.
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
Missense variants in TUBA4A cause myo-tubulinopathies. medRxiv. 2025 Jun 28.
Missense variants in TUBA4A cause myo-tubulinopathies.
Zebrafish based small molecule screens for novel DMD drugs. Drug Discov Today Technol. 2013; 10(1):e91-6.
Zebrafish based small molecule screens for novel DMD drugs.
Kong SW, Sahin M, Collins CD, Wertz MH, Campbell MG, Leech JD, Krueger D, Bear MF, Kunkel LM, Kohane IS
Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis. Mol Autism. 2014 Feb 24; 5(1):16.
Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis.
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
MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms. J Clin Invest. 2014 Jun; 124(6):2651-67.
MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms.
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
Dystrophin is a tumor suppressor in human cancers with myogenic programs. Nat Genet. 2014 Jun; 46(6):601-6.
Dystrophin is a tumor suppressor in human cancers with myogenic programs.
Kunkel LM, Smith KD, Boyer SH, Borgaonkar DS, Wachtel SS, Miller OJ, Breg WR, Jones HW, Rary JM
Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A. 1977 Mar; 74(3):1245-9.
Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.
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
Conditional Dmd ablation in muscle and brain causes profound effects on muscle function and neurobehavior. Commun Biol. 2025 Dec 02; 8(1):1736.
Conditional Dmd ablation in muscle and brain causes profound effects on muscle function and neurobehavior.
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
Missense variants in TUBA4A cause myo-tubulinopathies. Brain. 2026 Feb 12.
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
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.
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).
Thompson AA, Talley JA, Do HN, Kagan HL, Kunkel L, Berenson J, Cooper MD, Saxon A, Wall R
Aberrations of the B-cell receptor B29 (CD79b) gene in chronic lymphocytic leukemia. Blood. 1997 Aug 15; 90(4):1387-94.
Aberrations of the B-cell receptor B29 (CD79b) gene in chronic lymphocytic leukemia.
Emerging preclinical animal models for FSHD. Trends Mol Med. 2015 May; 21(5):295-306.
Emerging preclinical animal models for FSHD.
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
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.
A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.
Vieira NM, Guo LT, Estrela E, Kunkel LM, Zatz M, Shelton GD
Muscular dystrophy in a family of Labrador Retrievers with no muscle dystrophin and a mild phenotype. Neuromuscul Disord. 2015 May; 25(5):363-70.
Muscular dystrophy in a family of Labrador Retrievers with no muscle dystrophin and a mild phenotype.
Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling. Hum Mol Genet. 2015 Aug 01; 24(15):4480-1.
Guiraud S, Aartsma-Rus A, Vieira NM, Davies KE, van Ommen GJ, Kunkel LM
Annual review of genomics and human genetics
The Pathogenesis and Therapy of Muscular Dystrophies. Annu Rev Genomics Hum Genet. 2015; 16:281-308.
The Pathogenesis and Therapy of Muscular Dystrophies.
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
Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype. Cell. 2015 Nov 19; 163(5):1204-1213.
Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype.
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
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. Nat Genet. 2016 Jan; 48(1):74-8.
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.
Evaluating a New Antibody for SP Cell Sorting/Differentiation Capacity of SP Cells Co-Cultured with DRGs
Pathogenesis and Treatment of Muscular Dystrophy
Gene expression in normal &diseased muscle development
Genetic Studies of Interstitial Cystitis
GENETIC AND CYTOGENETIC STUDIES OF MENTAL RETARDATION
DYSTROPHIN AND RELATED PROTEINS IN NEUROMUSCULAR DISEASE
Intellectual and Developmental Disablities Research Center
Modulation of Jagged1/Pitpna in DMD as a means of therapy
Kruger JS, Kodjebacheva GD, Kunkel L, Smith KD, Kruger DJ
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.
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.
Reddy HM, Hamed SA, Lek M, Mitsuhashi S, Estrella E, Jones MD, Mahoney LJ, Duncan AR, Cho KA, Macarthur DG, Kunkel LM, Kang PB
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.
Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.
Boston Intellectual and Developmental Disabilities Research Center
Alexander MS, Rozkalne A, Colletta A, Spinazzola JM, Johnson S, Rahimov F, Meng H, Lawlor MW, Estrella E, Kunkel LM, Gussoni E
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.
CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells and Is Linked to Muscular Dystrophies.
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
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. J Hum Genet. 2017 Feb; 62(2):243-252.
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
Zebrafish based small molecule screens for novel DMD drugs. Drug Discov Today Technol. 2013; 10(1):e91-e96.
Widrick JJ, Alexander MS, Sanchez B, Gibbs DE, Kawahara G, Beggs AH, Kunkel LM
Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy. Physiol Genomics. 2016 11 01; 48(11):850-860.
Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy.
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
Reversal of neurobehavioral social deficits in dystrophic mice using inhibitors of phosphodiesterases PDE5A and PDE9A. Transl Psychiatry. 2016 Sep 27; 6(9):e901.
Reversal of neurobehavioral social deficits in dystrophic mice using inhibitors of phosphodiesterases PDE5A and PDE9A.
Reflections on Henry Kunkel outside the laboratory. Clin Immunol. 2016 11; 172:21-22.
Reflections on Henry Kunkel outside the laboratory.
Sadoulet-Puccio HM, Khurana TS, Cohen JB, Kunkel LM
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.
Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane.
Scharf JM, Damron D, Frisella A, Bruno S, Beggs AH, Kunkel LM, Dietrich WF
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.
The mouse region syntenic for human spinal muscular atrophy lies within the Lgn1 critical interval and contains multiple copies of Naip exon 5.
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.
Additional dystrophin fragment in Becker muscular dystrophy may result from proteolytic cleavage at deletion junctions.
Lien LL, Boyce FM, Kleyn P, Brzustowicz LM, Menninger J, Ward DC, Gilliam TC, Kunkel LM
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.
Mapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13.
Mizuno Y, Puca AA, O'Brien KF, Beggs AH, Kunkel LM
Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3. BMC Genet. 2001; 2:8.
Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3.
Bennett RR, den Dunnen J, O'Brien KF, Darras BT, Kunkel LM
Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. BMC Genet. 2001; 2:17.
Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.
Jones KJ, Compton AG, Yang N, Mills MA, Peters MF, Mowat D, Kunkel LM, Froehner SC, North KN
Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy. Neuromuscul Disord. 2003 Aug; 13(6):456-67.
Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy.
Dystrophies and heart disease. Curr Opin Cardiol. 1997 May; 12(3):329-43.
Skeletal Muscle MicroRNAs: Their Diagnostic and Therapeutic Potential in Human Muscle Diseases. J Neuromuscul Dis. 2015; 2(1):1-11.
Skeletal Muscle MicroRNAs: Their Diagnostic and Therapeutic Potential in Human Muscle Diseases.
Lewis N, Rosen LS, Rocha Lima C, Marshall JL, Jones SF, Cohen RB, Kunkel L, Stewart S, Burris HA
Journal of clinical oncology : official journal of the American Society of Clinical Oncology
Phase I experience with an anti-glycotope monoclonal antibody, RAV12, in recurrent adenocarcinoma. J Clin Oncol. 2008 May 20; 26(15_suppl):3023.
Phase I experience with an anti-glycotope monoclonal antibody, RAV12, in recurrent adenocarcinoma.
Beggs AH, Byers TJ, Knoll JH, Boyce FM, Bruns GA, Kunkel LM
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.
Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11.
von Deimling F, Scharf JM, Liehr T, Rothe M, Kelter AR, Albers P, Dietrich WF, Kunkel LM, Wernert N, Wirth B
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.
Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma.
Dinçer P, Bönnemann CG, Erdir Aker O, Akçoren Z, Nigro V, Kunkel LM, Topalolu H
A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F. Neuromuscul Disord. 2000 Jun; 10(4-5):247-50.
A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F.
Kunkel LM, Bachrach E, Bennett RR, Guyon J, Steffen L
Diagnosis and cell-based therapy for Duchenne muscular dystrophy in humans, mice, and zebrafish. J Hum Genet. 2006; 51(5):397-406.
Diagnosis and cell-based therapy for Duchenne muscular dystrophy in humans, mice, and zebrafish.
Growney JD, Scharf JM, Kunkel LM, Dietrich WF
Evolutionary divergence of the mouse and human Lgn1/SMA repeat structures. Genomics. 2000 Feb 15; 64(1):62-81.
Evolutionary divergence of the mouse and human Lgn1/SMA repeat structures.
Takada F, Vander Woude DL, Tong HQ, Thompson TG, Watkins SC, Kunkel LM, Beggs AH
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.
Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines.
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
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.
Rituximab using a thrice weekly dosing schedule in B-cell chronic lymphocytic leukemia and small lymphocytic lymphoma demonstrates clinical activity and acceptable toxicity.
Cartaud A, Ludosky MA, Tomé FM, Collin H, Stetzkowski-Marden F, Khurana TS, Kunkel LM, Fardeau M, Changeux JP, Cartaud J
Localization of dystrophin and dystrophin-related protein at the electromotor synapse and neuromuscular junction in Torpedo marmorata. Neuroscience. 1992 Jun; 48(4):995-1003.
Localization of dystrophin and dystrophin-related protein at the electromotor synapse and neuromuscular junction in Torpedo marmorata.
Kang PB, Feener CA, Estrella E, Thorne M, White AJ, Darras BT, Amato AA, Kunkel LM
LGMD2I in a North American population. BMC Musculoskelet Disord. 2007 Nov 24; 8:115.
Briggs CE, Guo CY, Schoettler C, Rosoklija I, Silva A, Bauer SB, Retik AB, Kunkel L, Nguyen HT
European journal of human genetics : EJHG
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.
A genome scan in affected sib-pairs with familial vesicoureteral reflux identifies a locus on chromosome 5.
Kawahara G, Guyon JR, Nakamura Y, Kunkel LM
Zebrafish models for human FKRP muscular dystrophies. Hum Mol Genet. 2010 Feb 15; 19(4):623-33.
Zebrafish models for human FKRP muscular dystrophies.
Montanaro F, Liadaki K, Volinski J, Flint A, Kunkel LM
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.
Skeletal muscle engraftment potential of adult mouse skin side population cells.
Mizuno Y, Guyon JR, Watkins SC, Mizushima K, Sasaoka T, Imamura M, Kunkel LM, Okamoto K
Beta-synemin localizes to regions of high stress in human skeletal myofibers. Muscle Nerve. 2004 Sep; 30(3):337-46.
Beta-synemin localizes to regions of high stress in human skeletal myofibers.
The subcellular distribution of dystrophin in mouse skeletal, cardiac, and smooth muscle. J Cell Biol. 1991 Oct; 115(2):411-21.
The subcellular distribution of dystrophin in mouse skeletal, cardiac, and smooth muscle.
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
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.
Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).
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.
Human skeletal muscle-specific alpha-actinin-2 and -3 isoforms form homodimers and heterodimers in vitro and in vivo.
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
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.
A genome-wide scan for linkage to human exceptional longevity identifies a locus on chromosome 4.
Beggs AH, Hoffman EP, Snyder JR, Arahata K, Specht L, Shapiro F, Angelini C, Sugita H, Kunkel LM
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.
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.
Duncan DR, Kang PB, Rabbat JC, Briggs CE, Lidov HG, Darras BT, Kunkel LM
A novel mutation in two families with limb-girdle muscular dystrophy type 2C. Neurology. 2006 Jul 11; 67(1):167-9.
A novel mutation in two families with limb-girdle muscular dystrophy type 2C.
Henderson DC, Kunkel L, Nguyen DD, Borba CP, Daley TB, Louie PM, Freudenreich O, Cather C, Evins AE, Goff DC
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.
An exploratory open-label trial of aripiprazole as an adjuvant to clozapine therapy in chronic schizophrenia.
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
Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. Am J Hum Genet. 1996 Nov; 59(5):1040-7.
Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.
The subcellular distribution of chromosome 6-encoded dystrophin-related protein in the brain. J Cell Biol. 1992 Oct; 119(2):357-66.
The subcellular distribution of chromosome 6-encoded dystrophin-related protein in the brain.
Spencer MJ, Guyon JR, Sorimachi H, Potts A, Richard I, Herasse M, Chamberlain J, Dalkilic I, Kunkel LM, Beckmann JS
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.
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.
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
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.
Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle.
Gussoni E, Soneoka Y, Strickland CD, Buzney EA, Khan MK, Flint AF, Kunkel LM, Mulligan RC
Dystrophin expression in the mdx mouse restored by stem cell transplantation. Nature. 1999 Sep 23; 401(6751):390-4.
Dystrophin expression in the mdx mouse restored by stem cell transplantation.
The fate of individual myoblasts after transplantation into muscles of DMD patients. Nat Med. 1997 Sep; 3(9):970-7.
The fate of individual myoblasts after transplantation into muscles of DMD patients.
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
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.
Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation.
Beggs AH, Neumann PE, Arahata K, Arikawa E, Nonaka I, Anderson MS, Kunkel LM
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.
Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy.
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
Caveolin-3 in muscular dystrophy. Hum Mol Genet. 1998 May; 7(5):871-7.
Endrizzi M, Huang S, Scharf JM, Kelter AR, Wirth B, Kunkel LM, Miller W, Dietrich WF
Comparative sequence analysis of the mouse and human Lgn1/SMA interval. Genomics. 1999 Sep 01; 60(2):137-51.
Comparative sequence analysis of the mouse and human Lgn1/SMA interval.
Specht LA, Beggs AH, Korf B, Kunkel LM, Shapiro F
Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy. Pediatr Neurol. 1992 Nov-Dec; 8(6):432-6.
Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy.
Bönnemann CG, Cox GF, Shapiro F, Wu JJ, Feener CA, Thompson TG, Anthony DC, Eyre DR, Darras BT, Kunkel LM
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.
A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.
Olby NJ, Sharp NJ, Anderson LV, Kunkel LM, Bönnemann CG
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.
Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers.
van Ommen GJ, Bertelson C, Ginjaar HB, den Dunnen JT, Bakker E, Chelly J, Matton M, van Essen AJ, Bartley J, Kunkel LM
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.
Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker.
de Martinville B, Kunkel LM, Bruns G, Morlé F, Koenig M, Mandel JL, Horwich A, Latt SA, Gusella JF, Housman D
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.
Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.
Kunkel LM, Lalande M, Monaco AP, Flint A, Middlesworth W, Latt SA
Construction of a human X-chromosome-enriched phage library which facilitates analysis of specific loci. Gene. 1985; 33(3):251-8.
Construction of a human X-chromosome-enriched phage library which facilitates analysis of specific loci.
Cooper BJ, Winand NJ, Stedman H, Valentine BA, Hoffman EP, Kunkel LM, Scott MO, Fischbeck KH, Kornegay JN, Avery RJ
The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs. Nature. 1988 Jul 14; 334(6178):154-6.
The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs.
Angelini C, Beggs AH, Hoffman EP, Fanin M, Kunkel LM
Enormous dystrophin in a patient with Becker muscular dystrophy. Neurology. 1990 May; 40(5):808-12.
Enormous dystrophin in a patient with Becker muscular dystrophy.
Dp140: alternatively spliced isoforms in brain and kidney. Genomics. 1997 Oct 01; 45(1):132-9.
Dp140: alternatively spliced isoforms in brain and kidney.
Perls T, Terry DF, Silver M, Shea M, Bowen J, Joyce E, Ridge SB, Fretts R, Daly M, Brewster S, Puca A, Kunkel L
Results and problems in cell differentiation
Centenarians and the genetics of longevity. Results Probl Cell Differ. 2000; 29:1-20.
Centenarians and the genetics of longevity.
Perls TT, Wilmoth J, Levenson R, Drinkwater M, Cohen M, Bogan H, Joyce E, Brewster S, Kunkel L, Puca A
Life-long sustained mortality advantage of siblings of centenarians. Proc Natl Acad Sci U S A. 2002 Jun 11; 99(12):8442-7.
Life-long sustained mortality advantage of siblings of centenarians.
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. Am J Hum Genet. 1997 Apr; 60(4):790-7.
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.
Dystrobrevin and dystrophin: an interaction through coiled-coil motifs. Proc Natl Acad Sci U S A. 1997 Nov 11; 94(23):12413-8.
Dystrobrevin and dystrophin: an interaction through coiled-coil motifs.
Nimgaonkar A, Sanoudou D, Butte AJ, Haslett JN, Kunkel LM, Beggs AH, Kohane IS
Reproducibility of gene expression across generations of Affymetrix microarrays. BMC Bioinformatics. 2003 Jun 25; 4:27.
Reproducibility of gene expression across generations of Affymetrix microarrays.
Current opinion in genetics & development
The genetics of aging. Curr Opin Genet Dev. 2002 Jun; 12(3):362-9.
Guyon JR, Kudryashova E, Potts A, Dalkilic I, Brosius MA, Thompson TG, Beckmann JS, Kunkel LM, Spencer MJ
Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans. Muscle Nerve. 2003 Oct; 28(4):472-83.
Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans.
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
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.
A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions.
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.
Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene.
Byers TJ, Neumann PE, Beggs AH, Kunkel LM
ELISA quantitation of dystrophin for the diagnosis of Duchenne and Becker muscular dystrophies. Neurology. 1992 Mar; 42(3 Pt 1):570-6.
ELISA quantitation of dystrophin for the diagnosis of Duchenne and Becker muscular dystrophies.
Arahata K, Hoffman EP, Kunkel LM, Ishiura S, Tsukahara T, Ishihara T, Sunohara N, Nonaka I, Ozawa E, Sugita H
Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses. Proc Natl Acad Sci U S A. 1989 Sep; 86(18):7154-8.
Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses.
Vieira NM, Spinazzola JM, Alexander MS, Moreira YB, Kawahara G, Gibbs DE, Mead LC, Verjovski-Almeida S, Zatz M, Kunkel LM
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.
Repression of phosphatidylinositol transfer protein a ameliorates the pathology of Duchenne muscular dystrophy.
The genetics of exceptional human longevity. J Am Geriatr Soc. 2002 Feb; 50(2):359-68.
The genetics of exceptional human longevity.
Bakker E, Hofker MH, Goor N, Mandel JL, Wrogemann K, Davies KE, Kunkel LM, Willard HF, Fenton WA, Sandkuyl L
Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet. 1985 Mar 23; 1(8430):655-8.
Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs.
Haslett JN, Sanoudou D, Kho AT, Han M, Bennett RR, Kohane IS, Beggs AH, Kunkel LM
Gene expression profiling of Duchenne muscular dystrophy skeletal muscle. Neurogenetics. 2003 Aug; 4(4):163-71.
Gene expression profiling of Duchenne muscular dystrophy skeletal muscle.
A polymorphic CACA repeat in the 3' untranslated region of dystrophin. Nucleic Acids Res. 1990 Apr 11; 18(7):1931.
A polymorphic CACA repeat in the 3' untranslated region of dystrophin.
Péault B, Rudnicki M, Torrente Y, Cossu G, Tremblay JP, Partridge T, Gussoni E, Kunkel LM, Huard J
Stem and progenitor cells in skeletal muscle development, maintenance, and therapy. Mol Ther. 2007 May; 15(5):867-77.
Stem and progenitor cells in skeletal muscle development, maintenance, and therapy.
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet. 1990 Nov; 86(1):45-8.
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction.
Shi W, Chen Z, Schottenfeld J, Stahl RC, Kunkel LM, Chan YM
Specific assembly pathway of sarcoglycans is dependent on beta- and delta-sarcoglycan. Muscle Nerve. 2004 Mar; 29(3):409-19.
Specific assembly pathway of sarcoglycans is dependent on beta- and delta-sarcoglycan.
Lidov HG, Byers TJ, Watkins SC, Kunkel LM
Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons. Nature. 1990 Dec 20-27; 348(6303):725-8.
Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons.
Peters MF, Sadoulet-Puccio HM, Grady MR, Kramarcy NR, Kunkel LM, Sanes JR, Sealock R, Froehner SC
Differential membrane localization and intermolecular associations of alpha-dystrobrevin isoforms in skeletal muscle. J Cell Biol. 1998 Sep 07; 142(5):1269-78.
Differential membrane localization and intermolecular associations of alpha-dystrobrevin isoforms in skeletal muscle.
Chan YM, Bönnemann CG, Lidov HG, Kunkel LM
Molecular organization of sarcoglycan complex in mouse myotubes in culture. J Cell Biol. 1998 Dec 28; 143(7):2033-44.
Molecular organization of sarcoglycan complex in mouse myotubes in culture.
Sohn RL, Huang P, Kawahara G, Mitchell M, Guyon J, Kalluri R, Kunkel LM, Gussoni E
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.
A role for nephrin, a renal protein, in vertebrate skeletal muscle cell fusion.
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
Microarray analysis of normal and dystrophic skeletal muscle. Int J Dev Neurosci. 2002 Jun-Aug; 20(3-5):359-65.
Microarray analysis of normal and dystrophic skeletal muscle.
Muscular dystrophies: genes to pathogenesis. Curr Opin Genet Dev. 2003 Jun; 13(3):231-8.
Muscular dystrophies: genes to pathogenesis.
Brown CS, Thomas NS, Sarfarazi M, Davies KE, Kunkel L, Pearson PL, Kingston HM, Shaw DJ, Harper PS
Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy. Hum Genet. 1985; 71(1):62-74.
Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy.
Monaco AP, Bertelson CJ, Middlesworth W, Colletti CA, Aldridge J, Fischbeck KH, Bartlett R, Pericak-Vance MA, Roses AD, Kunkel LM
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.
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.
Baehner RL, Kunkel LM, Monaco AP, Haines JL, Conneally PM, Palmer C, Heerema N, Orkin SH
DNA linkage analysis of X chromosome-linked chronic granulomatous disease. Proc Natl Acad Sci U S A. 1986 May; 83(10):3398-401.
DNA linkage analysis of X chromosome-linked chronic granulomatous disease.
Arashiro P, Eisenberg I, Kho AT, Cerqueira AM, Canovas M, Silva HC, Pavanello RC, Verjovski-Almeida S, Kunkel LM, Zatz M
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.
Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers.
Hoffman EP, Kunkel LM, Angelini C, Clarke A, Johnson M, Harris JB
Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Neurology. 1989 Aug; 39(8):1011-7.
Improved diagnosis of Becker muscular dystrophy by dystrophin testing.
Sanoudou D, Frieden LA, Haslett JN, Kho AT, Greenberg SA, Kohane IS, Kunkel LM, Beggs AH
Molecular classification of nemaline myopathies: "nontyping" specimens exhibit unique patterns of gene expression. Neurobiol Dis. 2004 Apr; 15(3):590-600.
Molecular classification of nemaline myopathies: "nontyping" specimens exhibit unique patterns of gene expression.
Evans MI, Greb A, Kunkel LM, Sacks AJ, Johnson MP, Boehm C, Kazazian HH, Hoffman EP
American journal of obstetrics and gynecology
In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy. Am J Obstet Gynecol. 1991 Sep; 165(3):728-32.
In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy.
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.
Rapid detection of CA polymorphisms in cloned DNA: application to the 5' region of the dystrophin gene.
Pharmacological therapeutics targeting the secondary defects and downstream pathology of Duchenne muscular dystrophy. Expert Opin Orphan Drugs. 2016; 4(11):1179-1194.
Pharmacological therapeutics targeting the secondary defects and downstream pathology of Duchenne muscular dystrophy.
Lien LL, Feener CA, Fischbach N, Kunkel LM
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.
Cloning of human microtubule-associated protein 1B and the identification of a related gene on chromosome 15.
Engle EC, Kunkel LM, Specht LA, Beggs AH
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.
Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.
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.
Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location.
The distribution of dystrophin in the murine central nervous system: an immunocytochemical study. Neuroscience. 1993 May; 54(1):167-87.
The distribution of dystrophin in the murine central nervous system: an immunocytochemical study.
Haslett JN, Kang PB, Han M, Kho AT, Sanoudou D, Volinski JM, Beggs AH, Kohane IS, Kunkel LM
Mammalian genome : official journal of the International Mammalian Genome Society
The influence of muscle type and dystrophin deficiency on murine expression profiles. Mamm Genome. 2005 Oct; 16(10):739-48.
The influence of muscle type and dystrophin deficiency on murine expression profiles.
Motohashi N, Alexander MS, Casar JC, Kunkel LM
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.
Identification of a novel microRNA that regulates the proliferation and differentiation in muscle side population cells.
Laboratory investigation; a journal of technical methods and pathology
Dystrophin and Dp140 in the adult rodent kidney. Lab Invest. 1998 Dec; 78(12):1543-51.
Dystrophin and Dp140 in the adult rodent kidney.
Thompson TG, Chan YM, Hack AA, Brosius M, Rajala M, Lidov HG, McNally EM, Watkins S, Kunkel LM
Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein. J Cell Biol. 2000 Jan 10; 148(1):115-26.
Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein.
Steffen LS, Guyon JR, Vogel ED, Beltre R, Pusack TJ, Zhou Y, Zon LI, Kunkel LM
Zebrafish orthologs of human muscular dystrophy genes. BMC Genomics. 2007 Mar 20; 8:79.
Zebrafish orthologs of human muscular dystrophy genes.
McCabe ER, Towbin J, Chamberlain J, Baumbach L, Witkowski J, van Ommen GJ, Koenig M, Kunkel LM, Seltzer WK
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.
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.
Liechti-Gallati S, Koenig M, Kunkel LM, Frey D, Boltshauser E, Schneider V, Braga S, Moser H
Molecular deletion patterns in Duchenne and Becker type muscular dystrophy. Hum Genet. 1989 Mar; 81(4):343-8.
Molecular deletion patterns in Duchenne and Becker type muscular dystrophy.
Fischbeck KH, Ritter AW, Tirschwell DL, Kunkel LM, Bertelson CJ, Monaco AP, Hejtmancik JF, Boehm C, Ionasescu V, Ionasescu R
Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy. Lancet. 1986 Jul 12; 2(8498):104.
Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy.
Eran A, Li JB, Vatalaro K, McCarthy J, Rahimov F, Collins C, Markianos K, Margulies DM, Brown EN, Calvo SE, Kohane IS, Kunkel LM
Comparative RNA editing in autistic and neurotypical cerebella. Mol Psychiatry. 2013 Sep; 18(9):1041-8.
Comparative RNA editing in autistic and neurotypical cerebella.
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
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature. 1986 Jul 3-9; 322(6074):73-7.
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.
Bonilla E, Samitt CE, Miranda AF, Hays AP, Salviati G, DiMauro S, Kunkel LM, Hoffman EP, Rowland LP
Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface. Cell. 1988 Aug 12; 54(4):447-52.
Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface.
Partridge TA, Morgan JE, Coulton GR, Hoffman EP, Kunkel LM
Conversion of mdx myofibres from dystrophin-negative to -positive by injection of normal myoblasts. Nature. 1989 Jan 12; 337(6203):176-9.
Conversion of mdx myofibres from dystrophin-negative to -positive by injection of normal myoblasts.
Schienda J, Engleka KA, Jun S, Hansen MS, Epstein JA, Tabin CJ, Kunkel LM, Kardon G
Somitic origin of limb muscle satellite and side population cells. Proc Natl Acad Sci U S A. 2006 Jan 24; 103(4):945-50.
Somitic origin of limb muscle satellite and side population cells.
Peters MF, O'Brien KF, Sadoulet-Puccio HM, Kunkel LM, Adams ME, Froehner SC
beta-dystrobrevin, a new member of the dystrophin family. Identification, cloning, and protein associations. J Biol Chem. 1997 Dec 12; 272(50):31561-9.
beta-dystrobrevin, a new member of the dystrophin family. Identification, cloning, and protein associations.
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
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.
High-dose recombinant interleukin 2 therapy for patients with metastatic melanoma: analysis of 270 patients treated between 1985 and 1993.
Guyon JR, Mosley AN, Zhou Y, O'Brien KF, Sheng X, Chiang K, Davidson AJ, Volinski JM, Zon LI, Kunkel LM
The dystrophin associated protein complex in zebrafish. Hum Mol Genet. 2003 Mar 15; 12(6):601-15.
The dystrophin associated protein complex in zebrafish.
Tomczak KK, Marinescu VD, Ramoni MF, Sanoudou D, Montanaro F, Han M, Kunkel LM, Kohane IS, Beggs AH
Expression profiling and identification of novel genes involved in myogenic differentiation. FASEB J. 2004 Feb; 18(2):403-5.
Expression profiling and identification of novel genes involved in myogenic differentiation.
Bachrach E, Perez AL, Choi YH, Illigens BM, Jun SJ, del Nido P, McGowan FX, Li S, Flint A, Chamberlain J, Kunkel LM
Muscle engraftment of myogenic progenitor cells following intraarterial transplantation. Muscle Nerve. 2006 Jul; 34(1):44-52.
Muscle engraftment of myogenic progenitor cells following intraarterial transplantation.
Luth ES, Jun SJ, Wessen MK, Liadaki K, Gussoni E, Kunkel LM
Bone marrow side population cells are enriched for progenitors capable of myogenic differentiation. J Cell Sci. 2008 May 01; 121(Pt 9):1426-34.
Bone marrow side population cells are enriched for progenitors capable of myogenic differentiation.
Guyon JR, Goswami J, Jun SJ, Thorne M, Howell M, Pusack T, Kawahara G, Steffen LS, Galdzicki M, Kunkel LM
Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin. Hum Mol Genet. 2009 Jan 01; 18(1):202-11.
Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin.
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
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.
Comment on "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients".
Hurko O, Hoffman EP, McKee L, Johns DR, Kunkel LM
Dystrophin analysis in clonal myoblasts derived from a Duchenne muscular dystrophy carrier. Am J Hum Genet. 1989 Jun; 44(6):820-6.
Dystrophin analysis in clonal myoblasts derived from a Duchenne muscular dystrophy carrier.
Rahimov F, King OD, Warsing LC, Powell RE, Emerson CP, Kunkel LM, Wagner KR
Gene expression profiling of skeletal muscles treated with a soluble activin type IIB receptor. Physiol Genomics. 2011 Apr 27; 43(8):398-407.
Gene expression profiling of skeletal muscles treated with a soluble activin type IIB receptor.
van Ommen GJ, Verkerk JM, Hofker MH, Monaco AP, Kunkel LM, Ray P, Worton R, Wieringa B, Bakker E, Pearson PL
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.
A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome.
Homma S, Chen JC, Rahimov F, Beermann ML, Hanger K, Bibat GM, Wagner KR, Kunkel LM, Emerson CP, Miller JB
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.
A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function.
Dystrophin: the protein product of the Duchene muscular dystrophy locus. 1987. Biotechnology. 1992; 24:457-66.
Dystrophin: the protein product of the Duchene muscular dystrophy locus. 1987.
Kwan SP, Kunkel L, Bruns G, Wedgwood RJ, Latt S, Rosen FS
Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism. J Clin Invest. 1986 Feb; 77(2):649-52.
Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism.
Mitsuhashi H, Mitsuhashi S, Lynn-Jones T, Kawahara G, Kunkel LM
Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy. Hum Mol Genet. 2013 Feb 01; 22(3):568-77.
Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy.
Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM
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.
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.
Khurana TS, Engle EC, Bennett RR, Silverman GA, Selig S, Bruns GA, Kunkel LM
(CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein. Hum Mol Genet. 1994 May; 3(5):841.
(CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein.
Beggs AH, Phillips HA, Kozman H, Mulley JC, Wilton SD, Kunkel LM, Laing NG
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.
A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1.
Sanoudou D, Kang PB, Haslett JN, Han M, Kunkel LM, Beggs AH
Transcriptional profile of postmortem skeletal muscle. Physiol Genomics. 2004 Jan 15; 16(2):222-8.
Transcriptional profile of postmortem skeletal muscle.
Liadaki K, Kho AT, Sanoudou D, Schienda J, Flint A, Beggs AH, Kohane IS, Kunkel LM
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.
Side population cells isolated from different tissues share transcriptome signatures and express tissue-specific markers.
2004 William Allan Award address. Cloning of the DMD gene. Am J Hum Genet. 2005 Feb; 76(2):205-14.
2004 William Allan Award address. Cloning of the DMD gene.
Kang PB, Kho AT, Sanoudou D, Haslett JN, Dow CP, Han M, Blasko JM, Lidov HG, Beggs AH, Kunkel LM
Variations in gene expression among different types of human skeletal muscle. Muscle Nerve. 2005 Oct; 32(4):483-91.
Variations in gene expression among different types of human skeletal muscle.
Research publications - Association for Research in Nervous and Mental Disease
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.
Muscular dystrophy research: what have we learned and where do we go from here?
Guyon JR, Steffen LS, Howell MH, Pusack TJ, Lawrence C, Kunkel LM
Modeling human muscle disease in zebrafish. Biochim Biophys Acta. 2007 Feb; 1772(2):205-15.
Modeling human muscle disease in zebrafish.
Identification of a chromosome 6-encoded dystrophin-related protein. J Biol Chem. 1990 Oct 05; 265(28):16717-20.
Identification of a chromosome 6-encoded dystrophin-related protein.
Steffen LS, Guyon JR, Vogel ED, Howell MH, Zhou Y, Weber GJ, Zon LI, Kunkel LM
The zebrafish runzel muscular dystrophy is linked to the titin gene. Dev Biol. 2007 Sep 15; 309(2):180-92.
The zebrafish runzel muscular dystrophy is linked to the titin gene.
Improved diagnosis of Duchenne/Becker muscular dystrophy. J Clin Invest. 1990 Mar; 85(3):613-9.
Improved diagnosis of Duchenne/Becker muscular dystrophy.
Molecular genetics of Duchenne and Becker muscular dystrophy: emphasis on improved diagnosis. Clin Chem. 1989 Jul; 35(7 Suppl):B21-4.
Molecular genetics of Duchenne and Becker muscular dystrophy: emphasis on improved diagnosis.
Bertelson CJ, Bartley JA, Monaco AP, Colletti-Feener C, Fischbeck K, Kunkel LM
Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families. J Med Genet. 1986 Dec; 23(6):531-7.
Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families.
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell. 1988 Apr 22; 53(2):219-28.
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.
Dystrophin and its isoforms. Brain Pathol. 1996 Jan; 6(1):25-35.
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
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Hum Mol Genet. 1996 Dec; 5(12):1963-9.
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies.
Selig S, Lidov HG, Bruno SA, Segal MM, Kunkel LM
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.
Molecular characterization of Br-cadherin, a developmentally regulated, brain-specific cadherin.
Bachrach E, Li S, Perez AL, Schienda J, Liadaki K, Volinski J, Flint A, Chamberlain J, Kunkel LM
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.
Systemic delivery of human microdystrophin to regenerating mouse dystrophic muscle by muscle progenitor cells.
Michels VV, Pastores GM, Moll PP, Driscoll DJ, Miller FA, Burnett JC, Rodeheffer RJ, Tajik JA, Beggs AH, Kunkel LM
Dystrophin analysis in idiopathic dilated cardiomyopathy. J Med Genet. 1993 Nov; 30(11):955-7.
Dystrophin analysis in idiopathic dilated cardiomyopathy.
Burmeister M, Monaco AP, Gillard EF, van Ommen GJ, Affara NA, Ferguson-Smith MA, Kunkel LM, Lehrach H
A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene. Genomics. 1988 Apr; 2(3):189-202.
A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene.
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
Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment. Am J Pathol. 2012 Sep; 181(3):961-8.
Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.
Dystrophin abnormalities in Duchenne/Becker muscular dystrophy. Neuron. 1989 Jan; 2(1):1019-29.
Dystrophin abnormalities in Duchenne/Becker muscular dystrophy.
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
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.
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.
Proceedings of the Royal Society of London. Series B, Biological sciences
The Wellcome lecture, 1988. Muscular dystrophy: a time of hope. Proc R Soc Lond B Biol Sci. 1989 Jun 22; 237(1286):1-9.
The Wellcome lecture, 1988. Muscular dystrophy: a time of hope.
Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus. Nature. 1989 Apr 06; 338(6215):509-11.
Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus.
McNally EM, Yoshida M, Mizuno Y, Ozawa E, Kunkel LM
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.
Human adhalin is alternatively spliced and the gene is located on chromosome 17q21.
Hoffman EP, Beggs AH, Koenig M, Kunkel LM, Angelini C
Cross-reactive protein in Duchenne muscle. Lancet. 1989 Nov 18; 2(8673):1211-2.
Cross-reactive protein in Duchenne muscle.
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.
Development and use of metaphase chromosome flow-sorting methodology to obtain recombinant phage libraries enriched for parts of the human X chromosome.
Hoffman EP, Knudson CM, Campbell KP, Kunkel LM
Subcellular fractionation of dystrophin to the triads of skeletal muscle. Nature. 1987 Dec 24-31; 330(6150):754-8.
Subcellular fractionation of dystrophin to the triads of skeletal muscle.
Mizuno Y, Thompson TG, Guyon JR, Lidov HG, Brosius M, Imamura M, Ozawa E, Watkins SC, Kunkel LM
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.
Desmuslin, an intermediate filament protein that interacts with alpha -dystrobrevin and desmin.
Dystrophin and muscular dystrophy: past, present, and future. Mol Genet Metab. 2001 Sep-Oct; 74(1-2):75-88.
Dystrophin and muscular dystrophy: past, present, and future.
Khurana TS, Watkins SC, Chafey P, Chelly J, Tomé FM, Fardeau M, Kaplan JC, Kunkel LM
Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle. Neuromuscul Disord. 1991; 1(3):185-94.
Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle.
Kefi M, Amouri R, Driss A, Ben Hamida C, Ben Hamida M, Kunkel LM, Hentati F
Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation. Neuromuscul Disord. 2003 Dec; 13(10):779-87.
Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation.
In vitro expressed dystrophin fragments do not associate with each other. FEBS Lett. 1997 Jun 30; 410(2-3):153-9.
In vitro expressed dystrophin fragments do not associate with each other.
Caveolin-3 deficiency as a cause of limb-girdle muscular dystrophy. J Child Neurol. 1999 Jan; 14(1):33-4.
Caveolin-3 deficiency as a cause of limb-girdle muscular dystrophy.
Scharf JM, Endrizzi MG, Wetter A, Huang S, Thompson TG, Zerres K, Dietrich WF, Wirth B, Kunkel LM
Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. Nat Genet. 1998 Sep; 20(1):83-6.
Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics.
Kunkel LM, Monaco AP, Bertelson CJ, Colletti CA
Molecular genetics of Duchenne muscular dystrophy. Cold Spring Harb Symp Quant Biol. 1986; 51 Pt 1:349-51.
Molecular genetics of Duchenne muscular dystrophy.
Sadoulet-Puccio HM, Feener CA, Schaid DJ, Thibodeau SN, Michels VV, Kunkel LM
The genomic organization of human dystrobrevin. Neurogenetics. 1997 May; 1(1):37-42.
The genomic organization of human dystrobrevin.
The genetics of exceptional human longevity. J Mol Neurosci. 2002 Aug-Oct; 19(1-2):233-8.
Geesaman BJ, Benson E, Brewster SJ, Kunkel LM, Blanché H, Thomas G, Perls TT, Daly MJ, Puca AA
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.
Haplotype-based identification of a microsomal transfer protein marker associated with the human lifespan.
Khurana TS, Specht LA, Beggs AH, Tomé FM, Letureq F, Chevallay M, Chafey P, Kunkel LM
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.
The concomitant use of dystrophin and utrophin/dystrophin related protein antibodies to reduce misdiagnosis of Duchenne/Becker muscular dystrophy.