ABOUT THE RESEARCHER

OVERVIEW

Dr. Kunkel’s research uses mouse and zebrafish models of the muscular dystrophies to develop a better understanding of the human disorders and develop rational therapies.

Laboratory Projects

  1. miRNAs in Duchenne Dystrophy:Using array based screening, miRNAs that are dysregulated in human muscular dystrophy were identified and the laboratory is testing whether manipulation of specific miRNAs might be therapeutic.

  2. Jagged1 as a genetic modifier of dystrophin deficiency:The laboratory has used genomic approaches to characterize a dog model of dystrophin deficiency, which escapes the consequences of this deficiency. Jagged1 was identified as being elevated 2.5 fold in expression level in these dogs and when jagged1 is increased in our zebrafish model it also ameliorated symptoms. We are currently working in collaboration with Pfizer to identify small molecules, which might increase levels and be of therapeutic benefit to patients.

  3. Characterization of DUX4 in facioscapulohumeral muscular dystrophy (FSHD):DUX4 is a transcription factor, which is miss-regulated in FSHD and the laboratory is attempting to model this disorder in Zebrafish. We are also using CRISPR-Cas9 technology to identify genes whose inactivation will lead to resistance to DUX4 toxicity and might be a genetic modifier of disease severity.

BACKGROUND

Dr. Louis Kunkel is an internationally recognized geneticist with years of experience and scientific success in the understanding of the basis for muscular dystrophies. He received a B.A. from Gettysburg College and his Ph.D. from Johns Hopkins University. Over the past three decades Dr. Kunkel has devoted his career to understanding the molecular basis, and developing therapy, for neuromuscular disorders. Dr. Kunkel is universally recognized for his 1986 identification of dystrophin as the causative gene in Duchenne muscular dystrophy. His current work centers on developing dystrophin independent therapies for Duchenne muscular dystrophy to complement existing therapies currently in development. He has received numerous awards for his research including membership to the National Academy of Sciences and The American Academy of Arts and Sciences. Dr. Kunkel recently received the 2009 March of Dimes Prize in Developmental Biology for this pioneering work on muscular dystrophy. He leads a long-standing effort to develop novel therapies.

Selected Publications

  1. Hoffman EP, Brown RH Jr, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987 Dec 24;51(6):919-28. PubMed PMID: 3319190.
  2. 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. doi: 10.1073/pnas.1102116108. Epub 2011 Mar 14. PubMed PMID: 21402949; PubMed Central PMCID: PMC3069215.
  3. 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. doi: 10.1093/hmg/dds467. Epub 2012 Oct 29. PMC3606007
  4. 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 2;124(6):2651-67. doi: 10.1172/JCI73579. Epub 2014 May 1. PMC4038577
  5. Vieira NM, Elvers, Alexander MS, Moreira YB, Eran A, Gomes JP, Marshall JL, Karlsson EK,Verjovski-Almeida S, Lindblad-Toh K, Kunkel LM, Zatz M (2015). Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype. Cell 2015 Nov 19; 163(5): 1204-13 doi: 10.1016/j.cell.2015. 10.049. PMCID: PMC4668935

PUBLICATIONS

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  1. hnRNP L is essential for myogenic differentiation and modulates myotonic dystrophy pathologies. Muscle Nerve. 2021 06; 63(6):928-940. View abstract
  2. POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun. 2021 02 18; 12(1):1135. View abstract
  3. 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. View abstract
  4. Effect of serotonin modulation on dystrophin-deficient zebrafish. Biol Open. 2020 08 28; 9(8). View abstract
  5. Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy. Sci Transl Med. 2020 03 25; 12(536). View abstract
  6. Effect of serotonin modulation on dystrophin-deficient zebrafish. Biol Open. 2020 Jan 01. View abstract
  7. To dystrophin and beyond: an interview with Louis Kunkel. Dis Model Mech. 2019 12 12; 13(2). View abstract
  8. Concordance between gene expression in peripheral whole blood and colonic tissue in children with inflammatory bowel disease. PLoS One. 2019; 14(10):e0222952. View abstract
  9. The SINE Compound KPT-350 Blocks Dystrophic Pathologies in DMD Zebrafish and Mice. Mol Ther. 2020 01 08; 28(1):189-201. View abstract
  10. 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. View abstract
  11. Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis. Hum Mol Genet. 2019 01 15; 28(2):320-331. View abstract
  12. Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens. J Neuromuscul Dis. 2019; 6(3):271-287. View abstract
  13. A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies. JCI Insight. 2018 09 20; 3(18). View abstract
  14. 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. View abstract
  15. 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. View abstract
  16. An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish. PLoS One. 2018; 13(6):e0199712. View abstract
  17. 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. View abstract
  18. Pharmacological therapeutics targeting the secondary defects and downstream pathology of Duchenne muscular dystrophy. Expert Opin Orphan Drugs. 2016; 4(11):1179-1194. View abstract
  19. Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy. Physiol Genomics. 2016 11 01; 48(11):850-860. View abstract
  20. The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. J Hum Genet. 2017 Feb; 62(2):243-252. View abstract
  21. Reversal of neurobehavioral social deficits in dystrophic mice using inhibitors of phosphodiesterases PDE5A and PDE9A. Transl Psychiatry. 2016 Sep 27; 6(9):e901. View abstract
  22. 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. View abstract
  23. 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. View abstract
  24. Reflections on Henry Kunkel outside the laboratory. Clin Immunol. 2016 11; 172:21-22. View abstract
  25. A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. Nat Genet. 2016 Jan; 48(1):74-8. View abstract
  26. 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. View abstract
  27. Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype. Cell. 2015 Nov 19; 163(5):1204-1213. View abstract
  28. The Pathogenesis and Therapy of Muscular Dystrophies. Annu Rev Genomics Hum Genet. 2015; 16:281-308. View abstract
  29. Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling. Hum Mol Genet. 2015 Aug 01; 24(15):4480-1. View abstract
  30. Emerging preclinical animal models for FSHD. Trends Mol Med. 2015 May; 21(5):295-306. View abstract
  31. Muscular dystrophy in a family of Labrador Retrievers with no muscle dystrophin and a mild phenotype. Neuromuscul Disord. 2015 May; 25(5):363-70. View abstract
  32. 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. View abstract
  33. Skeletal Muscle MicroRNAs: Their Diagnostic and Therapeutic Potential in Human Muscle Diseases. J Neuromuscul Dis. 2015; 2(1):1-11. View abstract
  34. Dystrophin is a tumor suppressor in human cancers with myogenic programs. Nat Genet. 2014 Jun; 46(6):601-6. View abstract
  35. MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms. J Clin Invest. 2014 Jun; 124(6):2651-67. View abstract
  36. Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation. FASEB J. 2014 Jul; 28(7):2955-69. View abstract
  37. 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. View abstract
  38. Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis. Mol Autism. 2014 Feb 24; 5(1):16. View abstract
  39. Human skeletal muscle xenograft as a new preclinical model for muscle disorders. Hum Mol Genet. 2014 Jun 15; 23(12):3180-8. View abstract
  40. Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling. Hum Mol Genet. 2014 Apr 01; 23(7):1869-78. View abstract
  41. Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. Neuromuscul Disord. 2013 Dec; 23(12):975-80. View abstract
  42. 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 abstract
  43. Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder. Transl Psychiatry. 2013 May 28; 3:e262. View abstract
  44. The cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy. J Cell Biol. 2013 May 13; 201(4):499-510. View abstract
  45. Peripheral blood gene expression signature differentiates children with autism from unaffected siblings. Neurogenetics. 2013 May; 14(2):143-52. View abstract
  46. Regulation of IRS1/Akt insulin signaling by microRNA-128a during myogenesis. J Cell Sci. 2013 Jun 15; 126(Pt 12):2678-91. View abstract
  47. Zebrafish based small molecule screens for novel DMD drugs. Drug Discov Today Technol. 2013; 10(1):e91-6. View abstract
  48. Zebrafish based small molecule screens for novel DMD drugs. Drug Discov Today Technol. 2013; 10(1):e91-e96. View abstract
  49. Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders. PLoS One. 2012; 7(12):e49475. View abstract
  50. Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy. Hum Mol Genet. 2013 Feb 01; 22(3):568-77. View abstract
  51. Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers. Proc Natl Acad Sci U S A. 2012 Oct 02; 109(40):16234-9. View abstract
  52. 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 abstract
  53. Comparative RNA editing in autistic and neurotypical cerebella. Mol Psychiatry. 2013 Sep; 18(9):1041-8. View abstract
  54. Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment. Am J Pathol. 2012 Sep; 181(3):961-8. View abstract
  55. 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 abstract
  56. 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. View abstract
  57. The co-morbidity burden of children and young adults with autism spectrum disorders. PLoS One. 2012; 7(4):e33224. View abstract
  58. Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics. 2012 May; 13(2):115-24. View abstract
  59. 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 abstract
  60. ß4 integrin marks interstitial myogenic progenitor cells in adult murine skeletal muscle. J Histochem Cytochem. 2012 Jan; 60(1):31-44. View abstract
  61. 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 abstract
  62. 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 abstract
  63. Characterization of zebrafish dysferlin by morpholino knockdown. Biochem Biophys Res Commun. 2011 Sep 23; 413(2):358-63. View abstract
  64. Regulation of DMD pathology by an ankyrin-encoded miRNA. Skelet Muscle. 2011 Aug 08; 1:27. View abstract
  65. 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. View abstract
  66. 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 abstract
  67. Isolation and transcriptome analysis of adult zebrafish cells enriched for skeletal muscle progenitors. Muscle Nerve. 2011 May; 43(5):741-50. View abstract
  68. The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies. Hum Mol Genet. 2011 May 01; 20(9):1712-25. View abstract
  69. Gene expression profiling of skeletal muscles treated with a soluble activin type IIB receptor. Physiol Genomics. 2011 Apr 27; 43(8):398-407. View abstract
  70. High-density genomewide linkage analysis of exceptional human longevity identifies multiple novel loci. PLoS One. 2010 Aug 31; 5(8):e12432. View abstract
  71. Efficient identification of novel mutations in patients with limb girdle muscular dystrophy. Neurogenetics. 2010 Oct; 11(4):449-55. View abstract
  72. Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy. Muscle Nerve. 2010 Jun; 41(6):746-50. View abstract
  73. Zebrafish models for human FKRP muscular dystrophies. Hum Mol Genet. 2010 Feb 15; 19(4):623-33. View abstract
  74. Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes. BMC Genet. 2009 Oct 18; 10:66. View abstract
  75. CXCR4 enhances engraftment of muscle progenitor cells. Muscle Nerve. 2009 Oct; 40(4):562-72. View abstract
  76. 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 abstract
  77. Congenital myasthenic syndrome with episodic apnea. Pediatr Neurol. 2009 Jul; 41(1):42-5. View abstract
  78. 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. View abstract
  79. Expression of synemin in the mouse spinal cord. Muscle Nerve. 2009 May; 39(5):634-41. View abstract
  80. 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 abstract
  81. 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 abstract
  82. miRNAS in normal and diseased skeletal muscle. J Cell Mol Med. 2009 Jan; 13(1):2-11. View abstract
  83. Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin. Hum Mol Genet. 2009 Jan 01; 18(1):202-11. View abstract
  84. Phase I experience with an anti-glycotope monoclonal antibody, RAV12, in recurrent adenocarcinoma. J Clin Oncol. 2008 May 20; 26(15_suppl):3023. View abstract
  85. Bone marrow side population cells are enriched for progenitors capable of myogenic differentiation. J Cell Sci. 2008 May 01; 121(Pt 9):1426-34. View abstract
  86. LGMD2I in a North American population. BMC Musculoskelet Disord. 2007 Nov 24; 8:115. View abstract
  87. Distinctive patterns of microRNA expression in primary muscular disorders. Proc Natl Acad Sci U S A. 2007 Oct 23; 104(43):17016-21. View abstract
  88. Synemin expression in brain. Muscle Nerve. 2007 Oct; 36(4):497-504. View abstract
  89. The zebrafish runzel muscular dystrophy is linked to the titin gene. Dev Biol. 2007 Sep 15; 309(2):180-92. View abstract
  90. Effects of RAS on the genesis of embryonal rhabdomyosarcoma. Genes Dev. 2007 Jun 01; 21(11):1382-95. View abstract
  91. Medicine. Reestablishing the researcher-patient compact. Science. 2007 May 11; 316(5826):836-7. View abstract
  92. Beta-synemin expression in cardiotoxin-injected rat skeletal muscle. BMC Musculoskelet Disord. 2007 May 10; 8:40. View abstract
  93. Stem and progenitor cells in skeletal muscle development, maintenance, and therapy. Mol Ther. 2007 May; 15(5):867-77. View abstract
  94. Zebrafish orthologs of human muscular dystrophy genes. BMC Genomics. 2007 Mar 20; 8:79. View abstract
  95. Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure. Mol Cell Biol. 2006 Sep; 26(17):6522-34. View abstract
  96. Modeling human muscle disease in zebrafish. Biochim Biophys Acta. 2007 Feb; 1772(2):205-15. View abstract
  97. A novel mutation in two families with limb-girdle muscular dystrophy type 2C. Neurology. 2006 Jul 11; 67(1):167-9. View abstract
  98. Muscle engraftment of myogenic progenitor cells following intraarterial transplantation. Muscle Nerve. 2006 Jul; 34(1):44-52. View abstract
  99. Diagnosis and cell-based therapy for Duchenne muscular dystrophy in humans, mice, and zebrafish. J Hum Genet. 2006; 51(5):397-406. View abstract
  100. Transcriptome-scale similarities between mouse and human skeletal muscles with normal and myopathic phenotypes. BMC Musculoskelet Disord. 2006 Mar 07; 7:23. View abstract
  101. 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 abstract
  102. 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 abstract
  103. The influence of muscle type and dystrophin deficiency on murine expression profiles. Mamm Genome. 2005 Oct; 16(10):739-48. View abstract
  104. Variations in gene expression among different types of human skeletal muscle. Muscle Nerve. 2005 Oct; 32(4):483-91. View abstract
  105. 2004 William Allan Award address. Cloning of the DMD gene. Am J Hum Genet. 2005 Feb; 76(2):205-14. View abstract
  106. Delta-sarcoglycan is required for early zebrafish muscle organization. Exp Cell Res. 2005 Mar 10; 304(1):105-15. View abstract
  107. 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 abstract
  108. Beta-synemin localizes to regions of high stress in human skeletal myofibers. Muscle Nerve. 2004 Sep; 30(3):337-46. View abstract
  109. Demystifying SP cell purification: viability, yield, and phenotype are defined by isolation parameters. Exp Cell Res. 2004 Aug 01; 298(1):144-54. View abstract
  110. Molecular classification of nemaline myopathies: "nontyping" specimens exhibit unique patterns of gene expression. Neurobiol Dis. 2004 Apr; 15(3):590-600. View abstract
  111. Specific assembly pathway of sarcoglycans is dependent on beta- and delta-sarcoglycan. Muscle Nerve. 2004 Mar; 29(3):409-19. View abstract
  112. 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. View abstract
  113. Transcriptional profile of postmortem skeletal muscle. Physiol Genomics. 2004 Jan 15; 16(2):222-8. View abstract
  114. Expression profiling and identification of novel genes involved in myogenic differentiation. FASEB J. 2004 Feb; 18(2):403-5. View abstract
  115. Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation. Neuromuscul Disord. 2003 Dec; 13(10):779-87. View abstract
  116. 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 abstract
  117. 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 abstract
  118. Minimal haplotype tagging. Proc Natl Acad Sci U S A. 2003 Aug 19; 100(17):9900-5. View abstract
  119. Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy. Neuromuscul Disord. 2003 Aug; 13(6):456-67. View abstract
  120. 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. View abstract
  121. Reproducibility of gene expression across generations of Affymetrix microarrays. BMC Bioinformatics. 2003 Jun 25; 4:27. View abstract
  122. Muscular dystrophies: genes to pathogenesis. Curr Opin Genet Dev. 2003 Jun; 13(3):231-8. View abstract
  123. Gene expression profiling of Duchenne muscular dystrophy skeletal muscle. Neurogenetics. 2003 Aug; 4(4):163-71. View abstract
  124. 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 abstract
  125. The dystrophin associated protein complex in zebrafish. Hum Mol Genet. 2003 Mar 15; 12(6):601-15. View abstract
  126. 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 abstract
  127. 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 abstract
  128. Molecular profiles of inflammatory myopathies. Neurology. 2002 Oct 22; 59(8):1170-82. View abstract
  129. 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. View abstract
  130. The genetics of exceptional human longevity. J Mol Neurosci. 2002 Aug-Oct; 19(1-2):233-8. View abstract
  131. 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 abstract
  132. Life-long sustained mortality advantage of siblings of centenarians. Proc Natl Acad Sci U S A. 2002 Jun 11; 99(12):8442-7. View abstract
  133. The genetics of aging. Curr Opin Genet Dev. 2002 Jun; 12(3):362-9. View abstract
  134. Microarray analysis of normal and dystrophic skeletal muscle. Int J Dev Neurosci. 2002 Jun-Aug; 20(3-5):359-65. View abstract
  135. Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile. Neuromuscul Disord. 2002 Mar; 12(3):273-80. View abstract
  136. The genetics of exceptional human longevity. J Am Geriatr Soc. 2002 Feb; 50(2):359-68. View abstract
  137. Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. BMC Genet. 2001; 2:17. View abstract
  138. Dystrophin and muscular dystrophy: past, present, and future. Mol Genet Metab. 2001 Sep-Oct; 74(1-2):75-88. View abstract
  139. 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 abstract
  140. Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3. BMC Genet. 2001; 2:8. View abstract
  141. 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 abstract
  142. 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 abstract
  143. 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 abstract
  144. Mutations in the caveolin-3 gene: When are they pathogenic? Am J Med Genet. 2001 Apr 01; 99(4):303-7. View abstract
  145. 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 abstract
  146. Analysis of human sarcospan as a candidate gene for CFEOM1. BMC Genet. 2001; 2:3. View abstract
  147. 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 abstract
  148. 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 abstract
  149. Exceptional familial clustering for extreme longevity in humans. J Am Geriatr Soc. 2000 Nov; 48(11):1483-5. View abstract
  150. A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F. Neuromuscul Disord. 2000 Jun; 10(4-5):247-50. View abstract
  151. Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations. Muscle Nerve. 2000 May; 23(5):807-10. View abstract
  152. Evolutionary divergence of the mouse and human Lgn1/SMA repeat structures. Genomics. 2000 Feb 15; 64(1):62-81. View abstract
  153. 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. View abstract
  154. 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. View abstract
  155. Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein. J Cell Biol. 2000 Jan 10; 148(1):115-26. View abstract
  156. Centenarians and the genetics of longevity. Results Probl Cell Differ. 2000; 29:1-20. View abstract
  157. Identification of FLRT1, FLRT2, and FLRT3: a novel family of transmembrane leucine-rich repeat proteins. Genomics. 1999 Dec 15; 62(3):417-26. View abstract
  158. Dystrophin expression in the mdx mouse restored by stem cell transplantation. Nature. 1999 Sep 23; 401(6751):390-4. View abstract
  159. Comparative sequence analysis of the mouse and human Lgn1/SMA interval. Genomics. 1999 Sep 01; 60(2):137-51. View abstract
  160. 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 abstract
  161. Caveolin-3 deficiency as a cause of limb-girdle muscular dystrophy. J Child Neurol. 1999 Jan; 14(1):33-4. View abstract
  162. Molecular organization of sarcoglycan complex in mouse myotubes in culture. J Cell Biol. 1998 Dec 28; 143(7):2033-44. View abstract
  163. Dystrophin and Dp140 in the adult rodent kidney. Lab Invest. 1998 Dec; 78(12):1543-51. View abstract
  164. Differential membrane localization and intermolecular associations of alpha-dystrobrevin isoforms in skeletal muscle. J Cell Biol. 1998 Sep 07; 142(5):1269-78. View abstract
  165. Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. Nat Genet. 1998 Sep; 20(1):83-6. View abstract
  166. 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. View abstract
  167. 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 abstract
  168. Caveolin-3 in muscular dystrophy. Hum Mol Genet. 1998 May; 7(5):871-7. View abstract
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