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Louis  Kunkel, PhD

Louis Kunkel, PhD
Lab:
Kunkel Laboratory
Program:
Neurobiology Program
Department:
Medicine Research
Division
Genetics and Genomics Research
Hospital Title:
Director, Genomics Program
Academic Title:
Professor of Genetics and Pediatrics, Harvard Medical School
Research Focus Area:
Pathogenesis and Genetics of Muscular Dystrophies
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Research Overview

The major focus of our laboratory is to study the muscular dystrophies, a series of progressive disorders of striated muscle that lead to the breakdown of muscle integrity. More recently, our research efforts have expanded to other complex genetic diseases including autism and interstitial cystitis. Muscular Dystrophies Since our discovery of the Duchenne-Becker muscular dystrophy gene dystrophin, we have taken two approaches to studying these diseases. The first is to unravel the normal function of the dystrophin-associated protein complex and determine how alteration of genes encoding members of this complex causes the disease. The second is to develop different lines of therapy for patients with muscular dystrophy. These efforts include stem-cell-based therapy and drug-discovery strategies to develop pharmaceutical-based approaches. We are identifying potential drug targets by characterizing genes and microRNAs that are upregulated or downregulated in the disease, and through drug screening efforts in zebrafish deficient in the dystrophin gene. The muscles of dystrophin-deficient zebrafish embryos appear patchy under polarized light (d), characteristic of muscle tearing. Interstitial Cystitis Interstitial cystitis (IC) is a complex genetic disorder affecting nearly 1 in 2,000 people in the United States. We have identified six families in which IC is segregating, and have found five different genetic loci that are significantly or suggestively linked to the disease. We are now sequencing the genes in these regions to find the causative mutations in these families. Identification of these genes should highlight potential disease pathways and might reveal insights into therapy. For more information, click here. Autism Autism is a developmental disorder that most likely involves genes expressed in the brain and probably has both genetic and environmental causes. Because many genes expressed in the central nervous system are also expressed in whole blood, we reasoned that we might be able to find signatures of gene expression that would allow us to categorize patients with autism and possibly identify causative genes. We can now predict whether a gene expression profile is derived from a blood sample taken from an autistic child or from a control. We are expanding these studies to many more patients and controls, in the hopes of developing a diagnostic test for autism. For more information, click here.

About Louis Kunkel

 Dr. Kunkel received his PhD degree in biology from the Johns Hopkins University and completed postdoctoral fellowships at the University of California, San Francisco and at Children's Hospital Boston. For the past 15 years, Dr. Kunkel has led Children's Genetics Division, which consists of more than fifty individuals. Dr. Kunkel is personally involved in each project in his own laboratory and this helps to assure the fulfillment of his scientific objectives. Dr. Kunkel is a member of the National Academy of Sciences. He currently holds appointments as Director of the Program in Genomics at Children's Hospital Boston; Investigator, Howard Hughes Institute; Professor of Pediatrics and Genetics, Harvard Medical School, Boston; and Director of the Sequencing/Genotyping, Expression Array and FACS Sorting Core Facilities at Children's Hospital Boston. Dr. Kunkel has authored 197 journal articles and 20 book chapters. He has received 22 awards and honors for scientific leadership and achievement including membership in the National Academy of Sciences, The Gairdner Foundation International Award 1989, Silvio O. Conte decade of Brain Award 1991, the MDS's S. Mouchly Small Scientific Achievement Award 1999, the Charles A. Dana Distinguished Research in Neuroscience Award, and the William Allan Award for distinguished service in human genetics in 2004.

Publications

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  1. Widrick JJ, Alexander M, Sanchez B, Gibbs D, Kawahara G, Beggs A, Kunkel L. Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy. Physiol Genomics. 2016 Oct 7; physiolgenomics.00088.2016.
  2. Alexander MS, Rozkalne A, Colletta A, Spinazzola JM, Johnson S, Rahimov F, Meng H, Lawlor MW, Estrella E, Kunkel LM, Gussoni E. CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells and Is Linked to Muscular Dystrophies. Cell Stem Cell. 2016 Sep 7.
  3. Reddy HM, Hamed SA, Lek M, Mitsuhashi S, Estrella E, Jones MD, Mahoney LJ, Duncan AR, Cho KA, Macarthur DG, Kunkel LM, Kang PB. Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt. Muscle Nerve. 2016 Oct; 54(4):690-5.
  4. Kruger JS, Kodjebacheva GD, Kunkel L, Smith KD, Kruger DJ. Caregiver financial distress, depressive symptoms and limited social capital as barriers to children's dental care in a mid-western county in the United States. Community Dent Health. 2015 Dec; 32(4):252-6.
  5. Guiraud S, Aartsma-Rus A, Vieira NM, Davies KE, van Ommen GJ, Kunkel LM. The Pathogenesis and Therapy of Muscular Dystrophies. Annu Rev Genomics Hum Genet. 2015; 16:281-308.
  6. Kawahara G, Gasperini MJ, Myers JA, Widrick JJ, Eran A, Serafini PR, Alexander MS, Pletcher MT, Morris CA, Kunkel LM. Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling. Hum Mol Genet. 2015 Aug 1; 24(15):4480-1.
  7. Lek A, Rahimov F, Jones PL, Kunkel LM. Emerging preclinical animal models for FSHD. Trends Mol Med. 2015 May; 21(5):295-306.
  8. Vieira NM, Guo LT, Estrela E, Kunkel LM, Zatz M, Shelton GD. Muscular dystrophy in a family of Labrador Retrievers with no muscle dystrophin and a mild phenotype. Neuromuscul Disord. 2015 May; 25(5):363-70.
  9. Al-Zaidy SA, Malik V, Kneile K, Rosales XQ, Gomez AM, Lewis S, Hashimoto S, Gastier-Foster J, Kang P, Darras B, Kunkel L, Carlo J, Sahenk Z, Moore SA, Pyatt R, Mendell JR. A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics. Mol Genet Genomic Med. 2015 Mar; 3(2):92-8.
  10. Wang Y, Marino-Enriquez A, Bennett RR, Zhu M, Shen Y, Eilers G, Lee JC, Henze J, Fletcher BS, Gu Z, Fox EA, Antonescu CR, Fletcher CD, Guo X, Raut CP, Demetri GD, van de Rijn M, Ordog T, Kunkel LM, Fletcher JA. Dystrophin is a tumor suppressor in human cancers with myogenic programs. Nat Genet. 2014 Jun; 46(6):601-6.
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  12. Balasubramanian A, Kawahara G, Gupta VA, Rozkalne A, Beauvais A, Kunkel LM, Gussoni E. Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation. FASEB J. 2014 Jul; 28(7):2955-69.
  13. Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cavaçana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M. A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). Hum Mol Genet. 2014 Aug 1; 23(15):4103-10.
  14. Kong SW, Sahin M, Collins CD, Wertz MH, Campbell MG, Leech JD, Krueger D, Bear MF, Kunkel LM, Kohane IS. Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis. Mol Autism. 2014 Feb 24; 5(1):16.
  15. Zhang Y, King OD, Rahimov F, Jones TI, Ward CW, Kerr JP, Liu N, Emerson CP, Kunkel LM, Partridge TA, Wagner KR. Human skeletal muscle xenograft as a new preclinical model for muscle disorders. Hum Mol Genet. 2014 Jun 15; 23(12):3180-8.
  16. 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.
  17. Vardarajan BN, Eran A, Jung JY, Kunkel LM, Wall DP. Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder. Transl Psychiatry. 2013 May 28; 3:e262.
  18. 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.
  19. 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.
  20. 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.
  21. Kawahara G, Kunkel LM. Zebrafish based small molecule screens for novel DMD drugs. Drug Discov Today Technol. 2013; 10(1):e91-6.
  22. Kawahara G, Kunkel LM. Zebrafish based small molecule screens for novel DMD drugs. Drug Discov Today Technol. 2013; 10(1):e91-e96.
  23. 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.
  24. 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.
  25. 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.
  26. 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.
  27. 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.
  28. 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.
  29. 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.
  30. 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.
  31. 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.
  32. 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.
  33. 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.
  34. 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.
  35. 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.
  36. Alexander MS, Casar JC, Motohashi N, Myers JA, Eisenberg I, Gonzalez RT, Estrella EA, Kang PB, Kawahara G, Kunkel LM. Regulation of DMD pathology by an ankyrin-encoded miRNA. Skelet Muscle. 2011 Aug 08; 1:27.
  37. Boyden SE, Duncan AR, Estrella EA, Lidov HG, Mahoney LJ, Katz JS, Kunkel LM, Kang PB. Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE. BMC Med Genet. 2011 Jun 28; 12:87.
  38. 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.
  39. 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.
  40. 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.
  41. Boyden SE, Kunkel LM. High-density genomewide linkage analysis of exceptional human longevity identifies multiple novel loci. PLoS One. 2010 Aug 31; 5(8):e12432.
  42. 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.
  43. 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.
  44. Bennett RR, Schneider HE, Estrella E, Burgess S, Cheng AS, Barrett C, Lip V, Lai PS, Shen Y, Wu BL, Darras BT, Beggs AH, Kunkel LM. Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes. BMC Genet. 2009 Oct 18; 10:66.
  45. 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.
  46. 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.
  47. 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.
  48. 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.
  49. 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.
  50. 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.
  51. Kang PB, Feener CA, Estrella E, Thorne M, White AJ, Darras BT, Amato AA, Kunkel LM. LGMD2I in a North American population. BMC Musculoskelet Disord. 2007 Nov 24; 8:115.
  52. Mizuno Y, Guyon JR, Okamoto K, Kunkel LM. Synemin expression in brain. Muscle Nerve. 2007 Oct; 36(4):497-504.
  53. 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.
  54. 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.
  55. 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.
  56. 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.
  57. 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.
  58. 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.
  59. 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.
  60. 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.
  61. 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.
  62. 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 Mar 07; 7:23.
  63. 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.
  64. 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.
  65. Kunkel LM. 2004 William Allan Award address. Cloning of the DMD gene. Am J Hum Genet. 2005 Feb; 76(2):205-14.
  66. 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.
  67. 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.
  68. 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.
  69. 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.
  70. 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.
  71. 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.
  72. 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.
  73. 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.
  74. 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.
  75. 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.
  76. 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.
  77. 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.
  78. 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.
  79. 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.
  80. Dalkilic I, Kunkel LM. Muscular dystrophies: genes to pathogenesis. Curr Opin Genet Dev. 2003 Jun; 13(3):231-8.
  81. 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.
  82. 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.
  83. 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.
  84. 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.
  85. 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.
  86. 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.
  87. Perls T, Kunkel LM, Puca AA. The genetics of exceptional human longevity. J Mol Neurosci. 2002 Aug-Oct; 19(1-2):233-8.
  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.
  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.
  90. Perls T, Kunkel L, Puca A. The genetics of aging. Curr Opin Genet Dev. 2002 Jun; 12(3):362-9.
  91. Haslett JN, Kunkel LM. Microarray analysis of normal and dystrophic skeletal muscle. Int J Dev Neurosci. 2002 Jun-Aug; 20(3-5):359-65.
  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.
  93. Perls T, Kunkel LM, Puca AA. The genetics of exceptional human longevity. J Am Geriatr Soc. 2002 Feb; 50(2):359-68.
  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.
  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.
  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.
  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.
  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.
  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.
  100. 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.
  101. 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.
  102. O'Brien KF, Engle EC, Kunkel LM. Analysis of human sarcospan as a candidate gene for CFEOM1. BMC Genet. 2001; 2:3.
  103. 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.
  104. 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.
  105. 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.
  106. 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.
  107. 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.
  108. 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.
  109. 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.
  110. Atkins MB, Kunkel L, Sznol M, Rosenberg SA. 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.
  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.
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  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.
  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.
  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.
  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.
  117. Kunkel L. Caveolin-3 deficiency as a cause of limb-girdle muscular dystrophy. J Child Neurol. 1999 Jan; 14(1):33-4.
  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.
  119. Lidov HG, Kunkel LM. Dystrophin and Dp140 in the adult rodent kidney. Lab Invest. 1998 Dec; 78(12):1543-51.
  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.
  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.
  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.
  123. 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.
  124. 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.
  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.
  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.
  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.
  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.
  129. Lidov HG, Kunkel LM. Dp140: alternatively spliced isoforms in brain and kidney. Genomics. 1997 Oct 1; 45(1):132-9.
  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.
  131. Thompson AA, Talley JA, Do HN, Kagan HL, Kunkel L, Berenson J, Cooper MD, Saxon A, Wall R. Aberrations of the B-cell receptor B29 (CD79b) gene in chronic lymphocytic leukemia. Blood. 1997 Aug 15; 90(4):1387-94.
  132. 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.
  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.
  134. Cox GF, Kunkel LM. Dystrophies and heart disease. Curr Opin Cardiol. 1997 May; 12(3):329-43.
  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.
  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.
  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.
  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.
  139. Bönnemann CG, McNally EM, Kunkel LM. Beyond dystrophin: current progress in the muscular dystrophies. Curr Opin Pediatr. 1996 Dec; 8(6):569-82.
  140. 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.
  141. 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.
  142. 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.
  143. 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.
  144. 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.
  145. 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.
  146. Sadoulet-Puccio HM, Kunkel LM. Dystrophin and its isoforms. Brain Pathol. 1996 Jan; 6(1):25-35.
  147. 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.
  148. 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.
  149. 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.
  150. 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.
  151. 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.
  152. 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.
  153. Ahn AH, Kunkel LM. Syntrophin binds to an alternatively spliced exon of dystrophin. J Cell Biol. 1995 Feb; 128(3):363-71.
  154. 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.
  155. 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.
  156. 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.
  157. 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.
  158. 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.
  159. 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.
  160. 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.
  161. Byers TJ, Lidov HG, Kunkel LM. An alternative dystrophin transcript specific to peripheral nerve. Nat Genet. 1993 May; 4(1):77-81.
  162. 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.
  163. Ahn AH, Kunkel LM. The structural and functional diversity of dystrophin. Nat Genet. 1993 Apr; 3(4):283-91.
  164. 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.
  165. 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.
  166. 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.
  167. Anderson MS, Kunkel LM. The molecular and biochemical basis of Duchenne muscular dystrophy. Trends Biochem Sci. 1992 Aug; 17(8):289-92.
  168. 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.
  169. 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.
  170. 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.
  171. 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.
  172. 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.
  173. Anderson MS, Kunkel LM, Khurana TS. Dystrophin mRNA in lyophilized tissue. Nature. 1992 Feb 27; 355(6363):778.
  174. 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.
  175. Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchene muscular dystrophy locus. 1987. Biotechnology. 1992; 24:457-66.
  176. 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.
  177. 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.
  178. 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.
  179. 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.
  180. 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.
  181. 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.
  182. 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.
  183. 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.
  184. 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.
  185. 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.
  186. Beggs AH, Kunkel LM. A polymorphic CACA repeat in the 3' untranslated region of dystrophin. Nucleic Acids Res. 1990 Apr 11; 18(7):1931.
  187. 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.
  188. 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.
  189. Beggs AH, Kunkel LM. Improved diagnosis of Duchenne/Becker muscular dystrophy. J Clin Invest. 1990 Mar; 85(3):613-9.
  190. 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.
  191. Watkins SC, Hoffman EP, Slayter HS, Kunkel LM. Dystrophin distribution in heterozygote MDX mice. Muscle Nerve. 1989 Oct; 12(10):861-8.
  192. Koenig M, Beggs AH, Moyer M, Scherpf S, Heindrich K, Bettecken T, Meng G, Müller CR, Lindlöf M, Kaariainen H, de la Chapellet A, Kiuru A, Savontaus ML, Gilgenkrantz H, Récan D, Chelly J, Kaplan JC, Covone AE, Archidiacono N, Romeo G, Liechti-Gailati S, Schneider V, Braga S, Moser H, Darras BT, Murphy P, Francke U, Chen JD, Morgan G, Denton M, Greenberg CR, Wrogemann K, Blonden LA, van Paassen MB, van Ommen GJ, Kunkel LM. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet. 1989 Oct; 45(4):498-506.
  193. 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.
  194. 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.
  195. 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.
  196. 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.
  197. 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.
  198. 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.
  199. 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.
  200. 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.
  201. 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.
  202. 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.
  203. Hoffman EP, Kunkel LM. Dystrophin abnormalities in Duchenne/Becker muscular dystrophy. Neuron. 1989 Jan; 2(1):1019-29.
  204. Hoffman EP, Kunkel LM, Brown RH. Proteolytic fragment or new gene product? Nature. 1988 Nov 17; 336(6196):210.
  205. 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.
  206. 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.
  207. Hoffman EP, Hudecki MS, Rosenberg PA, Pollina CM, Kunkel LM. Cell and fiber-type distribution of dystrophin. Neuron. 1988 Jul; 1(5):411-20.
  208. 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.
  209. Watkins SC, Hoffman EP, Slayter HS, Kunkel LM. Immunoelectron microscopic localization of dystrophin in myofibres. Nature. 1988 Jun 30; 333(6176):863-6.
  210. 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.
  211. 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.
  212. 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.
  213. 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.
  214. 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.
  215. 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.
  216. Monaco AP, Kunkel LM. Cloning of the Duchenne/Becker muscular dystrophy locus. Adv Hum Genet. 1988; 17:61-98.
  217. Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987 Dec 24; 51(6):919-28.
  218. 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.
  219. 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.
  220. 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.
  221. 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.
  222. 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.
  223. 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.
  224. 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.
  225. 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.
  226. 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.
  227. 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.
  228. 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.
  229. 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.
  230. 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.
  231. 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.
  232. 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.
  233. 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.
  234. 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.
  235. 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.
  236. 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.
  237. 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.
  238. Lange K, Kunkel L, Aldridge J, Latt SA. Accurate and superaccurate gene mapping. Am J Hum Genet. 1985 Sep; 37(5):853-67.
  239. 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.
  240. 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.
  241. 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.
  242. 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.
  243. 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.
  244. 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.
  245. 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.
  246. 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.
  247. 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.
  248. 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.
  249. 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.
  250. Kunkel LM. The dilemma of manifesting carriers in the context of myoblast transplantation. Adv Exp Med Biol. 1990; 280:285-6.
  251. 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.
  252. 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.
  253. Mizuno Y, Guyon JR, Okamoto K, Kunkel LM. Expression of synemin in the mouse spinal cord. Muscle Nerve. 2009 May; 39(5):634-41.
  254. 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.
  255. Hoffman EP, Beggs AH, Koenig M, Kunkel LM, Angelini C. Cross-reactive protein in Duchenne muscle. Lancet. 1989 Nov 18; 2(8673):1211-2.
  256. 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.
  257. 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.
  258. 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.
  259. 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.
  260. 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.
  261. 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.
  262. 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.
  263. 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.
  264. 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.
  265. 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.
  266. Eisenberg I, Alexander MS, Kunkel LM. miRNAS in normal and diseased skeletal muscle. J Cell Mol Med. 2009 Jan; 13(1):2-11.
  267. 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.
  268. 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.
  269. 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.
  270. 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.
  271. 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.
  272. 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.
  273. Kawahara G, Gasperini MJ, Myers JA, Widrick JJ, Eran A, Serafini PR, Alexander MS, Pletcher MT, Morris CA, Kunkel LM. Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling. Hum Mol Genet. 2014 Apr 1; 23(7):1869-78.
  274. Alexander MS, Casar JC, Motohashi N, Vieira NM, Eisenberg I, Marshall JL, Gasperini MJ, Lek A, Myers JA, Estrella EA, Kang PB, Shapiro F, Rahimov F, Kawahara G, Widrick JJ, Kunkel LM. MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms. J Clin Invest. 2014 Jun; 124(6):2651-67.
  275. Vieira NM, Elvers I, Alexander MS, Moreira YB, Eran A, Gomes JP, Marshall JL, Karlsson EK, Verjovski-Almeida S, Lindblad-Toh K, Kunkel LM, Zatz M. Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype. Cell. 2015 Nov 19; 163(5):1204-13.
  276. Jabara HH, Boyden SE, Chou J, Ramesh N, Massaad MJ, Benson H, Bainter W, Fraulino D, Rahimov F, Sieff C, Liu ZJ, Alshemmari SH, Al-Ramadi BK, Al-Dhekri H, Arnaout R, Abu-Shukair M, Vatsayan A, Silver E, Ahuja S, Davies EG, Sola-Visner M, Ohsumi TK, Andrews NC, Notarangelo LD, Fleming MD, Al-Herz W, Kunkel LM, Geha RS. A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. Nat Genet. 2016 Jan; 48(1):74-8.
  277. Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, MacArthur DG, Kang PB. The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. J Hum Genet. 2016 Oct 06.
  278. Alexander MS, Gasperini MJ, Tsai PT, Gibbs DE, Spinazzola JM, Marshall JL, Feyder MJ, Pletcher MT, Chekler EL, Morris CA, Sahin M, Harms JF, Schmidt CJ, Kleiman RJ, Kunkel LM. Reversal of neurobehavioral social deficits in dystrophic mice using inhibitors of phosphodiesterases PDE5A and PDE9A. Transl Psychiatry. 2016 Sep 27; 6(9):e901.
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