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Keywords
Last Name
Institution

Louis Martens Kunkel, PH.D.

TitleProfessor of Pediatrics
InstitutionChildren's Hospital Boston
DepartmentPediatrics
AddressChildren's Hospital
Division of Genetics, Enders 570
320 Longwood Avenue
Boston MA 02115
Phone617/355-7576
Fax617/730-0253
Other Positions
TitleProfessor of Genetics
InstitutionImmune Disease Institute
DepartmentGenetics


 Mentoring 
 completed student projects
Evaluating a New Antibody for SP Cell Sorting/Differentiation Capacity of SP Cells Co-Cultured with DRGs
Summer, 05/01/02 - 08/31/02

 Research 
 research resources
This researcher has shared information about their research resources
in the eagle-i Network. To update or add resource records, contact
eagle-i@hms.harvard.edu.
Molecular Genetics Core Facility (CHB) - Core services (15) and Instruments (23)
Cell Sorter Core (CHB) - Core services (5) and Instruments (2)

 Bibliographic 
 selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. 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.
    View in: PubMed
  2. 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.
    View in: PubMed
  3. 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; 3:e262.
    View in: PubMed
  4. Rahimov F, Kunkel LM. The cell biology of disease: Cellular and molecular mechanisms underlying muscular dystrophy. J Cell Biol. 2013 May 13; 201(4):499-510.
    View in: PubMed
  5. 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.
    View in: PubMed
  6. 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.
    View in: PubMed
  7. 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.
    View in: PubMed
  8. 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 1; 22(3):568-77.
    View in: PubMed
  9. 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 2; 109(40):16234-9.
    View in: PubMed
  10. 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.
    View in: PubMed
  11. 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.
    View in: PubMed
  12. 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.
    View in: PubMed
  13. 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.
    View in: PubMed
  14. 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 1; 21(16):3031-43.
    View in: PubMed
  15. 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.
    View in: PubMed
  16. 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.
    View in: PubMed
  17. Gupta V, Discenza M, Guyon JR, Kunkel LM, Beggs AH. 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.
    View in: PubMed
  18. Liadaki K, Casar JC, Wessen M, Luth ES, Jun S, Gussoni E, Kunkel LM. ß4 integrin marks interstitial myogenic progenitor cells in adult murine skeletal muscle. J Histochem Cytochem. 2012 Jan; 60(1):31-44.
    View in: PubMed
  19. 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.
    View in: PubMed
  20. 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.
    View in: PubMed
  21. Kawahara G, Serafini PR, Myers JA, Alexander MS, Kunkel LM. Characterization of zebrafish dysferlin by morpholino knockdown. Biochem Biophys Res Commun. 2011 Sep 23; 413(2):358-63.
    View in: PubMed
  22. 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; 1:27.
    View in: PubMed
  23. 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; 12:87.
    View in: PubMed
  24. 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.
    View in: PubMed
  25. 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.
    View in: PubMed
  26. 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 1; 20(9):1712-25.
    View in: PubMed
  27. 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.
    View in: PubMed
  28. Boyden SE, Kunkel LM. High-density genomewide linkage analysis of exceptional human longevity identifies multiple novel loci. PLoS One. 2010; 5(8):e12432.
    View in: PubMed
  29. 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.
    View in: PubMed
  30. 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.
    View in: PubMed
  31. 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.
    View in: PubMed
  32. 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; 10:66.
    View in: PubMed
  33. 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.
    View in: PubMed
  34. Briggs CE, Guo CY, Schoettler C, Rosoklija I, Silva A, Bauer SB, Retik AB, Kunkel L, Nguyen HT. 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.
    View in: PubMed
  35. 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.
    View in: PubMed
  36. 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 9; 106(23):9274-9.
    View in: PubMed
  37. Mizuno Y, Guyon JR, Okamoto K, Kunkel LM. Expression of synemin in the mouse spinal cord. Muscle Nerve. 2009 May; 39(5):634-41.
    View in: PubMed
  38. 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.
    View in: PubMed
  39. 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.
    View in: PubMed
  40. Eisenberg I, Alexander MS, Kunkel LM. miRNAS in normal and diseased skeletal muscle. J Cell Mol Med. 2009 Jan; 13(1):2-11.
    View in: PubMed
  41. 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 1; 18(1):202-11.
    View in: PubMed
  42. 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 1; 121(Pt 9):1426-34.
    View in: PubMed
  43. 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; 8:115.
    View in: PubMed
  44. 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.
    View in: PubMed
  45. Mizuno Y, Guyon JR, Okamoto K, Kunkel LM. Synemin expression in brain. Muscle Nerve. 2007 Oct; 36(4):497-504.
    View in: PubMed
  46. 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.
    View in: PubMed
  47. 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 1; 21(11):1382-95.
    View in: PubMed
  48. 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.
    View in: PubMed
  49. 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; 8:40.
    View in: PubMed
  50. 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.
    View in: PubMed
  51. 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; 8:79.
    View in: PubMed
  52. 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.
    View in: PubMed
  53. 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.
    View in: PubMed
  54. 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.
    View in: PubMed
  55. 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.
    View in: PubMed
  56. 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.
    View in: PubMed
  57. Kho AT, Kang PB, Kohane IS, Kunkel LM. Transcriptome-scale similarities between mouse and human skeletal muscles with normal and myopathic phenotypes. BMC Musculoskelet Disord. 2006; 7:23.
    View in: PubMed
  58. 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.
    View in: PubMed
  59. 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.
    View in: PubMed
  60. Haslett JN, Kang PB, Han M, Kho AT, Sanoudou D, Volinski JM, Beggs AH, Kohane IS, Kunkel LM. The influence of muscle type and dystrophin deficiency on murine expression profiles. Mamm Genome. 2005 Oct; 16(10):739-48.
    View in: PubMed
  61. 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.
    View in: PubMed
  62. Kunkel LM. 2004 William Allan Award address. Cloning of the DMD gene. Am J Hum Genet. 2005 Feb; 76(2):205-14.
    View in: PubMed
  63. 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.
    View in: PubMed
  64. 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.
    View in: PubMed
  65. 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.
    View in: PubMed
  66. 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 1; 298(1):144-54.
    View in: PubMed
  67. 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.
    View in: PubMed
  68. 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.
    View in: PubMed
  69. 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 9; 101(10):3581-6.
    View in: PubMed
  70. 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.
    View in: PubMed
  71. 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.
    View in: PubMed
  72. 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.
    View in: PubMed
  73. 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.
    View in: PubMed
  74. 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.
    View in: PubMed
  75. Sebastiani P, Lazarus R, Weiss ST, Kunkel LM, Kohane IS, Ramoni MF. Minimal haplotype tagging. Proc Natl Acad Sci U S A. 2003 Aug 19; 100(17):9900-5.
    View in: PubMed
  76. 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.
    View in: PubMed
  77. 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 5; 100(16):9336-41.
    View in: PubMed
  78. 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.
    View in: PubMed
  79. Dalkilic I, Kunkel LM. Muscular dystrophies: genes to pathogenesis. Curr Opin Genet Dev. 2003 Jun; 13(3):231-8.
    View in: PubMed
  80. 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.
    View in: PubMed
  81. 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.
    View in: PubMed
  82. 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.
    View in: PubMed
  83. 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.
    View in: PubMed
  84. 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.
    View in: PubMed
  85. 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.
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  86. 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.
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  87. Perls T, Kunkel LM, Puca AA. The genetics of exceptional human longevity. J Mol Neurosci. 2002 Aug-Oct; 19(1-2):233-8.
    View in: PubMed
  88. 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.
    View in: PubMed
  89. 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.
    View in: PubMed
  90. Haslett JN, Kunkel LM. Microarray analysis of normal and dystrophic skeletal muscle. Int J Dev Neurosci. 2002 Jun-Aug; 20(3-5):359-65.
    View in: PubMed
  91. Perls T, Kunkel L, Puca A. The genetics of aging. Curr Opin Genet Dev. 2002 Jun; 12(3):362-9.
    View in: PubMed
  92. 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.
    View in: PubMed
  93. Perls T, Kunkel LM, Puca AA. The genetics of exceptional human longevity. J Am Geriatr Soc. 2002 Feb; 50(2):359-68.
    View in: PubMed
  94. 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.
    View in: PubMed
  95. O'Brien KF, Kunkel LM. Dystrophin and muscular dystrophy: past, present, and future. Mol Genet Metab. 2001 Sep-Oct; 74(1-2):75-88.
    View in: PubMed
  96. 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.
    View in: PubMed
  97. 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.
    View in: PubMed
  98. 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.
    View in: PubMed
  99. Esses D, Gallagher EJ, Iannaccone R, Bijur P, Srinivas VS, Rose H, Kunkel L, Sokolof J. Six-hour versus 12-hour protocols for AMI: CK-MB in conjunction with myoglobin. Am J Emerg Med. 2001 May; 19(3):182-6.
    View in: PubMed
  100. 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.
    View in: PubMed
  101. 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 1; 99(4):303-7.
    View in: PubMed
  102. O'Brien KF, Engle EC, Kunkel LM. Analysis of human sarcospan as a candidate gene for CFEOM1. BMC Genet. 2001; 2:3.
    View in: PubMed
  103. 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.
    View in: PubMed
  104. 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.
    View in: PubMed
  105. 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.
    View in: PubMed
  106. Perls T, Shea-Drinkwater M, Bowen-Flynn J, Ridge SB, Kang S, Joyce E, Daly M, Brewster SJ, Kunkel L, Puca AA. Exceptional familial clustering for extreme longevity in humans. J Am Geriatr Soc. 2000 Nov; 48(11):1483-5.
    View in: PubMed
  107. 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.
    View in: PubMed
  108. 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.
    View in: PubMed
  109. 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.
    View in: PubMed
  110. 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 1; 97(3):1212-7.
    View in: PubMed
  111. 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.
    View in: PubMed
  112. Perls T, Terry DF, Silver M, Shea M, Bowen J, Joyce E, Ridge SB, Fretts R, Daly M, Brewster S, Puca A, Kunkel L. Centenarians and the genetics of longevity. Results Probl Cell Differ. 2000; 29:1-20.
    View in: PubMed
  113. 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.
    View in: PubMed
  114. 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.
    View in: PubMed
  115. 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 1; 60(2):137-51.
    View in: PubMed
  116. 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.
    View in: PubMed
  117. Kunkel L. Caveolin-3 deficiency as a cause of limb-girdle muscular dystrophy. J Child Neurol. 1999 Jan; 14(1):33-4.
    View in: PubMed
  118. 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.
    View in: PubMed
  119. Lidov HG, Kunkel LM. Dystrophin and Dp140 in the adult rodent kidney. Lab Invest. 1998 Dec; 78(12):1543-51.
    View in: PubMed
  120. 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 7; 142(5):1269-78.
    View in: PubMed
  121. 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.
    View in: PubMed
  122. Chan Y, Tong HQ, Beggs AH, Kunkel LM. 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 9; 248(1):134-9.
    View in: PubMed
  123. 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.
    View in: PubMed
  124. 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.
    View in: PubMed
  125. McNally EM, Ly CT, Kunkel LM. 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.
    View in: PubMed
  126. 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.
    View in: PubMed
  127. 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.
    View in: PubMed
  128. Sadoulet-Puccio HM, Rajala M, Kunkel LM. Dystrobrevin and dystrophin: an interaction through coiled-coil motifs. Proc Natl Acad Sci U S A. 1997 Nov 11; 94(23):12413-8.
    View in: PubMed
  129. Lidov HG, Kunkel LM. Dp140: alternatively spliced isoforms in brain and kidney. Genomics. 1997 Oct 1; 45(1):132-9.
    View in: PubMed
  130. Gussoni E, Blau HM, Kunkel LM. The fate of individual myoblasts after transplantation into muscles of DMD patients. Nat Med. 1997 Sep; 3(9):970-7.
    View in: PubMed
  131. Chan Y, Kunkel LM. In vitro expressed dystrophin fragments do not associate with each other. FEBS Lett. 1997 Jun 30; 410(2-3):153-9.
    View in: PubMed
  132. Cox GF, Kunkel LM. Dystrophies and heart disease. Curr Opin Cardiol. 1997 May; 12(3):329-43.
    View in: PubMed
  133. 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.
    View in: PubMed
  134. Holm IA, Huang X, Kunkel LM. Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. Am J Hum Genet. 1997 Apr; 60(4):790-7.
    View in: PubMed
  135. 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.
    View in: PubMed
  136. 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.
    View in: PubMed
  137. 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.
    View in: PubMed
  138. 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.
    View in: PubMed
  139. Bönnemann CG, McNally EM, Kunkel LM. Beyond dystrophin: current progress in the muscular dystrophies. Curr Opin Pediatr. 1996 Dec; 8(6):569-82.
    View in: PubMed
  140. 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.
    View in: PubMed
  141. 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.
    View in: PubMed
  142. 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.
    View in: PubMed
  143. 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.
    View in: PubMed
  144. 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.
    View in: PubMed
  145. 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.
    View in: PubMed
  146. 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.
    View in: PubMed
  147. 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 2; 271(5):2724-30.
    View in: PubMed
  148. Sadoulet-Puccio HM, Kunkel LM. Dystrophin and its isoforms. Brain Pathol. 1996 Jan; 6(1):25-35.
    View in: PubMed
  149. 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 3; 270(5237):819-22.
    View in: PubMed
  150. 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.
    View in: PubMed
  151. 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 1; 182(2):467-75.
    View in: PubMed
  152. 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.
    View in: PubMed
  153. 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.
    View in: PubMed
  154. Lidov HG, Selig S, Kunkel LM. Dp140: a novel 140 kDa CNS transcript from the dystrophin locus. Hum Mol Genet. 1995 Mar; 4(3):329-35.
    View in: PubMed
  155. Ahn AH, Kunkel LM. Syntrophin binds to an alternatively spliced exon of dystrophin. J Cell Biol. 1995 Feb; 128(3):363-71.
    View in: PubMed
  156. 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.
    View in: PubMed
  157. 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.
    View in: PubMed
  158. 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.
    View in: PubMed
  159. 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.
    View in: PubMed
  160. 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.
    View in: PubMed
  161. 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.
    View in: PubMed
  162. Michels VV, Pastores GM, Moll PP, Driscoll DJ, Miller FA, Burnett JC, Rodeheffer RJ, Tajik JA, Beggs AH, Kunkel LM, et al. Dystrophin analysis in idiopathic dilated cardiomyopathy. J Med Genet. 1993 Nov; 30(11):955-7.
    View in: PubMed
  163. Lidov HG, Byers TJ, Kunkel LM. The distribution of dystrophin in the murine central nervous system: an immunocytochemical study. Neuroscience. 1993 May; 54(1):167-87.
    View in: PubMed
  164. Byers TJ, Lidov HG, Kunkel LM. An alternative dystrophin transcript specific to peripheral nerve. Nat Genet. 1993 May; 4(1):77-81.
    View in: PubMed
  165. Ahn AH, Kunkel LM. The structural and functional diversity of dystrophin. Nat Genet. 1993 Apr; 3(4):283-91.
    View in: PubMed
  166. 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.
    View in: PubMed
  167. Beggs AH, Hoffman EP, Kunkel LM. Additional dystrophin fragment in Becker muscular dystrophy may result from proteolytic cleavage at deletion junctions. Am J Med Genet. 1992 Oct 1; 44(3):378-81.
    View in: PubMed
  168. Khurana TS, Watkins SC, Kunkel LM. The subcellular distribution of chromosome 6-encoded dystrophin-related protein in the brain. J Cell Biol. 1992 Oct; 119(2):357-66.
    View in: PubMed
  169. 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.
    View in: PubMed
  170. Anderson MS, Kunkel LM. The molecular and biochemical basis of Duchenne muscular dystrophy. Trends Biochem Sci. 1992 Aug; 17(8):289-92.
    View in: PubMed
  171. 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.
    View in: PubMed
  172. 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 5; 267(13):9281-8.
    View in: PubMed
  173. 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.
    View in: PubMed
  174. Laing NG, Majda BT, Akkari PA, Layton MG, Mulley JC, Phillips H, Haan EA, White SJ, Beggs AH, Kunkel LM, et al. Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I. Am J Hum Genet. 1992 Mar; 50(3):576-83.
    View in: PubMed
  175. Anderson MS, Kunkel LM, Khurana TS. Dystrophin mRNA in lyophilized tissue. Nature. 1992 Feb 27; 355(6363):778.
    View in: PubMed
  176. 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.
    View in: PubMed
  177. Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchene muscular dystrophy locus. 1987. Biotechnology. 1992; 24:457-66.
    View in: PubMed
  178. Byers TJ, Kunkel LM, Watkins SC. The subcellular distribution of dystrophin in mouse skeletal, cardiac, and smooth muscle. J Cell Biol. 1991 Oct; 115(2):411-21.
    View in: PubMed
  179. 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 1; 88(17):7873-6.
    View in: PubMed
  180. Evans MI, Greb A, Kunkel LM, Sacks AJ, Johnson MP, Boehm C, Kazazian HH, Hoffman EP. In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy. Am J Obstet Gynecol. 1991 Sep; 165(3):728-32.
    View in: PubMed
  181. 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.
    View in: PubMed
  182. Feener CA, Boyce FM, Kunkel LM. 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.
    View in: PubMed
  183. Boyce FM, Beggs AH, Feener C, Kunkel LM. Dystrophin is transcribed in brain from a distant upstream promoter. Proc Natl Acad Sci U S A. 1991 Feb 15; 88(4):1276-80.
    View in: PubMed
  184. 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.
    View in: PubMed
  185. Boyce FM, Beggs AH, Kunkel LM. 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.
    View in: PubMed
  186. 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.
    View in: PubMed
  187. Beggs AH, Koenig M, Boyce FM, Kunkel LM. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet. 1990 Nov; 86(1):45-8.
    View in: PubMed
  188. Khurana TS, Hoffman EP, Kunkel LM. Identification of a chromosome 6-encoded dystrophin-related protein. J Biol Chem. 1990 Oct 5; 265(28):16717-20.
    View in: PubMed
  189. 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.
    View in: PubMed
  190. Beggs AH, Kunkel LM. A polymorphic CACA repeat in the 3' untranslated region of dystrophin. Nucleic Acids Res. 1990 Apr 11; 18(7):1931.
    View in: PubMed
  191. 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.
    View in: PubMed
  192. Koenig M, Kunkel LM. 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.
    View in: PubMed
  193. Beggs AH, Kunkel LM. Improved diagnosis of Duchenne/Becker muscular dystrophy. J Clin Invest. 1990 Mar; 85(3):613-9.
    View in: PubMed
  194. Kunkel LM. The dilemma of manifesting carriers in the context of myoblast transplantation. Adv Exp Med Biol. 1990; 280:285-6.
    View in: PubMed
  195. Hoffman EP, Beggs AH, Koenig M, Kunkel LM, Angelini C. Cross-reactive protein in Duchenne muscle. Lancet. 1989 Nov 18; 2(8673):1211-2.
    View in: PubMed
  196. Carpenter JL, Hoffman EP, Romanul FC, Kunkel LM, Rosales RK, Ma NS, Dasbach JJ, Rae JF, Moore FM, McAfee MB, et al. Feline muscular dystrophy with dystrophin deficiency. Am J Pathol. 1989 Nov; 135(5):909-19.
    View in: PubMed
  197. Watkins SC, Hoffman EP, Slayter HS, Kunkel LM. Dystrophin distribution in heterozygote MDX mice. Muscle Nerve. 1989 Oct; 12(10):861-8.
    View in: PubMed
  198. 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.
    View in: PubMed
  199. 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.
    View in: PubMed
  200. Kunkel LM, Hoffman EP. Duchenne/Becker muscular dystrophy: a short overview of the gene, the protein, and current diagnostics. Br Med Bull. 1989 Jul; 45(3):630-43.
    View in: PubMed
  201. Kunkel LM, Beggs AH, Hoffman EP. Molecular genetics of Duchenne and Becker muscular dystrophy: emphasis on improved diagnosis. Clin Chem. 1989 Jul; 35(7 Suppl):B21-4.
    View in: PubMed
  202. Kunkel LM. The Wellcome lecture, 1988. Muscular dystrophy: a time of hope. Proc R Soc Lond B Biol Sci. 1989 Jun 22; 237(1286):1-9.
    View in: PubMed
  203. 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.
    View in: PubMed
  204. Feener CA, Koenig M, Kunkel LM. Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus. Nature. 1989 Apr 6; 338(6215):509-11.
    View in: PubMed
  205. 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.
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  206. 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.
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  207. 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.
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  208. 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.
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  209. Hoffman EP, Kunkel LM. Dystrophin abnormalities in Duchenne/Becker muscular dystrophy. Neuron. 1989 Jan; 2(1):1019-29.
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  210. Hoffman EP, Kunkel LM, Brown RH. Proteolytic fragment or new gene product? Nature. 1988 Nov 17; 336(6196):210.
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  211. 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.
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  212. Cooper BJ, Winand NJ, Stedman H, Valentine BA, Hoffman EP, Kunkel LM, Scott MO, Fischbeck KH, Kornegay JN, Avery RJ, et al. The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs. Nature. 1988 Jul 14; 334(6178):154-6.
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  213. Hoffman EP, Hudecki MS, Rosenberg PA, Pollina CM, Kunkel LM. Cell and fiber-type distribution of dystrophin. Neuron. 1988 Jul; 1(5):411-20.
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  214. 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.
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  215. Watkins SC, Hoffman EP, Slayter HS, Kunkel LM. Immunoelectron microscopic localization of dystrophin in myofibres. Nature. 1988 Jun 30; 333(6176):863-6.
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  216. 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.
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  217. 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.
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  218. Koenig M, Monaco AP, Kunkel LM. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell. 1988 Apr 22; 53(2):219-28.
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  219. 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.
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  220. 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.
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  221. Monaco AP, Kunkel LM. Cloning of the Duchenne/Becker muscular dystrophy locus. Adv Hum Genet. 1988; 17:61-98.
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  222. 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.
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  223. Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987 Dec 24; 51(6):919-28.
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  224. van Ommen GJ, Bertelson C, Ginjaar HB, den Dunnen JT, Bakker E, Chelly J, Matton M, van Essen AJ, Bartley J, Kunkel LM, et al. 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.
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  225. 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.
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  226. Lev AA, Feener CC, Kunkel LM, Brown RH. Expression of the Duchenne's muscular dystrophy gene in cultured muscle cells. J Biol Chem. 1987 Nov 25; 262(33):15817-20.
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  227. 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.
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  228. 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.
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  229. Hart KA, Monaco AP, Kunkel LM, Bobrow M. A small deletion in the Duchenne/Becker muscular dystrophy locus--a functionally important region? Hum Genet. 1987 Sep; 77(1):88-91.
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  230. 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.
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  231. 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.
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  232. 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.
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  233. 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.
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  234. 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.
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  235. 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.
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  236. 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.
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  237. Fischbeck KH, Ritter AW, Tirschwell DL, Kunkel LM, Bertelson CJ, Monaco AP, Hejtmancik JF, Boehm C, Ionasescu V, Ionasescu R, et al. Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy. Lancet. 1986 Jul 12; 2(8498):104.
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  238. 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.
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  239. Royer-Pokora B, Kunkel LM, Monaco AP, Goff SC, Newburger PE, Baehner RL, Cole FS, Curnutte JT, Orkin SH. 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.
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  240. 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.
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  241. 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.
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  242. 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.
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  243. Royer-Pokora B, Kunkel LM, Monaco AP, Goff SC, Newburger PE, Baehner RL, Cole FS, Curnutte JT, Orkin SH. 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.
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  244. Lange K, Kunkel L, Aldridge J, Latt SA. Accurate and superaccurate gene mapping. Am J Hum Genet. 1985 Sep; 37(5):853-67.
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  245. 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.
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  246. Bakker E, Hofker MH, Goor N, Mandel JL, Wrogemann K, Davies KE, Kunkel LM, Willard HF, Fenton WA, Sandkuyl L, et al. Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet. 1985 Mar 23; 1(8430):655-8.
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  247. de Martinville B, Kunkel LM, Bruns G, Morlé F, Koenig M, Mandel JL, Horwich A, Latt SA, Gusella JF, Housman D, et al. 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.
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  248. 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.
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  249. 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.
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  250. Aldridge J, Kunkel L, Bruns G, Tantravahi U, Lalande M, Brewster T, Moreau E, Wilson M, Bromley W, Roderick T, et al. A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet. 1984 May; 36(3):546-64.
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  251. Lalande M, Kunkel LM, Flint A, Latt SA. 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.
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  252. 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.
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