Louis Kunkel

Publications

1. Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development. FEBS J. 2025 Jan 16. View Abstract
2. High resolution kinematic approach for quantifying impaired mobility of dystrophic zebrafish larvae. bioRxiv. 2024 Dec 09. View Abstract
3. Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy. Muscle Nerve. 2024 Oct; 70(4):843-850. View Abstract
4. Effects of HMGCR deficiency on skeletal muscle development. bioRxiv. 2024 May 08. View Abstract
5. Corrigendium: Effects of RAS on the genesis of embryonal rhabdomyosarcoma. Genes Dev. 2024 Mar 01; 38(5-6):289. View Abstract
6. Optimizing assays of zebrafish larvae swimming performance for drug discovery. Expert Opin Drug Discov. 2023 06; 18(6):629-641. View Abstract
7. Variants in DTNA cause a mild, dominantly inherited muscular dystrophy. Acta Neuropathol. 2023 04; 145(4):479-496. View Abstract
8. Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort. Adv Genet (Hoboken). 2023 Mar; 4(1):2200013. View Abstract
9. Erratum: Skeletal muscle-specific overexpression of miR-486 limits mammary tumor-induced skeletal muscle functional limitations. Mol Ther Nucleic Acids. 2022 Sep 13; 29:614-616. View Abstract
10. Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype. Neuromuscul Disord. 2022 10; 32(10):836-841. View Abstract
11. Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy. Ann Clin Transl Neurol. 2022 08; 9(8):1302-1309. View Abstract
12. Skeletal muscle-specific overexpression of miR-486 limits mammary tumor-induced skeletal muscle functional limitations. Mol Ther Nucleic Acids. 2022 Jun 14; 28:231-248. View Abstract
13. hnRNP L is essential for myogenic differentiation and modulates myotonic dystrophy pathologies. Muscle Nerve. 2021 06; 63(6):928-940. View Abstract
14. POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun. 2021 02 18; 12(1):1135. View Abstract
15. 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
16. Effect of serotonin modulation on dystrophin-deficient zebrafish. Biol Open. 2020 08 28; 9(8). View Abstract
17. Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy. Sci Transl Med. 2020 03 25; 12(536). View Abstract
18. Effect of serotonin modulation on dystrophin-deficient zebrafish. Biol Open. 2020 Jan 01. View Abstract
19. To dystrophin and beyond: an interview with Louis Kunkel. Dis Model Mech. 2019 12 12; 13(2). View Abstract
20. 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
21. The SINE Compound KPT-350 Blocks Dystrophic Pathologies in DMD Zebrafish and Mice. Mol Ther. 2020 01 08; 28(1):189-201. View Abstract
22. 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
23. 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
24. Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens. J Neuromuscul Dis. 2019; 6(3):271-287. View Abstract
25. 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
26. 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
27. 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
28. An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish. PLoS One. 2018; 13(6):e0199712. View Abstract
29. 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
30. Pharmacological therapeutics targeting the secondary defects and downstream pathology of Duchenne muscular dystrophy. Expert Opin Orphan Drugs. 2016; 4(11):1179-1194. View Abstract
31. Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy. Physiol Genomics. 2016 11 01; 48(11):850-860. View Abstract
32. 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
33. 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
34. 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
35. 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
36. Reflections on Henry Kunkel outside the laboratory. Clin Immunol. 2016 11; 172:21-22. View Abstract
37. A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. Nat Genet. 2016 Jan; 48(1):74-8. View Abstract
38. 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
39. Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype. Cell. 2015 Nov 19; 163(5):1204-1213. View Abstract
40. The Pathogenesis and Therapy of Muscular Dystrophies. Annu Rev Genomics Hum Genet. 2015; 16:281-308. View Abstract
41. Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling. Hum Mol Genet. 2015 Aug 01; 24(15):4480-1. View Abstract
42. Emerging preclinical animal models for FSHD. Trends Mol Med. 2015 May; 21(5):295-306. View Abstract
43. 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
44. 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
45. Skeletal Muscle MicroRNAs: Their Diagnostic and Therapeutic Potential in Human Muscle Diseases. J Neuromuscul Dis. 2015; 2(1):1-11. View Abstract
46. Dystrophin is a tumor suppressor in human cancers with myogenic programs. Nat Genet. 2014 Jun; 46(6):601-6. View Abstract
47. 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
48. 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
49. 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
50. 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
51. Human skeletal muscle xenograft as a new preclinical model for muscle disorders. Hum Mol Genet. 2014 Jun 15; 23(12):3180-8. View Abstract
52. Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling. Hum Mol Genet. 2014 Apr 01; 23(7):1869-78. View Abstract
53. Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. Neuromuscul Disord. 2013 Dec; 23(12):975-80. View Abstract
54. 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
55. Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder. Transl Psychiatry. 2013 May 28; 3:e262. View Abstract
56. The cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy. J Cell Biol. 2013 May 13; 201(4):499-510. View Abstract
57. Peripheral blood gene expression signature differentiates children with autism from unaffected siblings. Neurogenetics. 2013 May; 14(2):143-52. View Abstract
58. Regulation of IRS1/Akt insulin signaling by microRNA-128a during myogenesis. J Cell Sci. 2013 Jun 15; 126(Pt 12):2678-91. View Abstract
59. Zebrafish based small molecule screens for novel DMD drugs. Drug Discov Today Technol. 2013; 10(1):e91-6. View Abstract
60. Zebrafish based small molecule screens for novel DMD drugs. Drug Discov Today Technol. 2013; 10(1):e91-e96. View Abstract
61. Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders. PLoS One. 2012; 7(12):e49475. View Abstract
62. Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy. Hum Mol Genet. 2013 Feb 01; 22(3):568-77. View Abstract
63. 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
64. 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
65. Comparative RNA editing in autistic and neurotypical cerebella. Mol Psychiatry. 2013 Sep; 18(9):1041-8. View Abstract
66. Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment. Am J Pathol. 2012 Sep; 181(3):961-8. View Abstract
67. 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
68. 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
69. The co-morbidity burden of children and young adults with autism spectrum disorders. PLoS One. 2012; 7(4):e33224. View Abstract
70. Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics. 2012 May; 13(2):115-24. View Abstract
71. 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
72. ß4 integrin marks interstitial myogenic progenitor cells in adult murine skeletal muscle. J Histochem Cytochem. 2012 Jan; 60(1):31-44. View Abstract
73. 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
74. 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
75. Characterization of zebrafish dysferlin by morpholino knockdown. Biochem Biophys Res Commun. 2011 Sep 23; 413(2):358-63. View Abstract
76. Regulation of DMD pathology by an ankyrin-encoded miRNA. Skelet Muscle. 2011 Aug 08; 1:27. View Abstract
77. 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
78. 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
79. Isolation and transcriptome analysis of adult zebrafish cells enriched for skeletal muscle progenitors. Muscle Nerve. 2011 May; 43(5):741-50. View Abstract
80. The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies. Hum Mol Genet. 2011 May 01; 20(9):1712-25. View Abstract
81. 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
82. High-density genomewide linkage analysis of exceptional human longevity identifies multiple novel loci. PLoS One. 2010 Aug 31; 5(8):e12432. View Abstract
83. Efficient identification of novel mutations in patients with limb girdle muscular dystrophy. Neurogenetics. 2010 Oct; 11(4):449-55. View Abstract
84. Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy. Muscle Nerve. 2010 Jun; 41(6):746-50. View Abstract
85. Zebrafish models for human FKRP muscular dystrophies. Hum Mol Genet. 2010 Feb 15; 19(4):623-33. View Abstract
86. Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes. BMC Genet. 2009 Oct 18; 10:66. View Abstract
87. CXCR4 enhances engraftment of muscle progenitor cells. Muscle Nerve. 2009 Oct; 40(4):562-72. View Abstract
88. 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
89. Congenital myasthenic syndrome with episodic apnea. Pediatr Neurol. 2009 Jul; 41(1):42-5. View Abstract
90. 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
91. Expression of synemin in the mouse spinal cord. Muscle Nerve. 2009 May; 39(5):634-41. View Abstract
92. 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
93. 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
94. miRNAS in normal and diseased skeletal muscle. J Cell Mol Med. 2009 Jan; 13(1):2-11. View Abstract
95. Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin. Hum Mol Genet. 2009 Jan 01; 18(1):202-11. View Abstract
96. 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
97. 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
98. LGMD2I in a North American population. BMC Musculoskelet Disord. 2007 Nov 24; 8:115. View Abstract
99. 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
100. Synemin expression in brain. Muscle Nerve. 2007 Oct; 36(4):497-504. View Abstract
101. The zebrafish runzel muscular dystrophy is linked to the titin gene. Dev Biol. 2007 Sep 15; 309(2):180-92. View Abstract
102. Effects of RAS on the genesis of embryonal rhabdomyosarcoma. Genes Dev. 2007 Jun 01; 21(11):1382-95. View Abstract
103. Medicine. Reestablishing the researcher-patient compact. Science. 2007 May 11; 316(5826):836-7. View Abstract
104. Beta-synemin expression in cardiotoxin-injected rat skeletal muscle. BMC Musculoskelet Disord. 2007 May 10; 8:40. View Abstract
105. Stem and progenitor cells in skeletal muscle development, maintenance, and therapy. Mol Ther. 2007 May; 15(5):867-77. View Abstract
106. Zebrafish orthologs of human muscular dystrophy genes. BMC Genomics. 2007 Mar 20; 8:79. View Abstract
107. Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure. Mol Cell Biol. 2006 Sep; 26(17):6522-34. View Abstract
108. Modeling human muscle disease in zebrafish. Biochim Biophys Acta. 2007 Feb; 1772(2):205-15. View Abstract
109. A novel mutation in two families with limb-girdle muscular dystrophy type 2C. Neurology. 2006 Jul 11; 67(1):167-9. View Abstract
110. Muscle engraftment of myogenic progenitor cells following intraarterial transplantation. Muscle Nerve. 2006 Jul; 34(1):44-52. View Abstract
111. Diagnosis and cell-based therapy for Duchenne muscular dystrophy in humans, mice, and zebrafish. J Hum Genet. 2006; 51(5):397-406. View Abstract
112. Transcriptome-scale similarities between mouse and human skeletal muscles with normal and myopathic phenotypes. BMC Musculoskelet Disord. 2006 Mar 07; 7:23. View Abstract
113. 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
114. 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
115. The influence of muscle type and dystrophin deficiency on murine expression profiles. Mamm Genome. 2005 Oct; 16(10):739-48. View Abstract
116. Variations in gene expression among different types of human skeletal muscle. Muscle Nerve. 2005 Oct; 32(4):483-91. View Abstract
117. 2004 William Allan Award address. Cloning of the DMD gene. Am J Hum Genet. 2005 Feb; 76(2):205-14. View Abstract
118. Delta-sarcoglycan is required for early zebrafish muscle organization. Exp Cell Res. 2005 Mar 10; 304(1):105-15. View Abstract
119. 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
120. Beta-synemin localizes to regions of high stress in human skeletal myofibers. Muscle Nerve. 2004 Sep; 30(3):337-46. View Abstract
121. 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
122. Molecular classification of nemaline myopathies: "nontyping" specimens exhibit unique patterns of gene expression. Neurobiol Dis. 2004 Apr; 15(3):590-600. View Abstract
123. Specific assembly pathway of sarcoglycans is dependent on beta- and delta-sarcoglycan. Muscle Nerve. 2004 Mar; 29(3):409-19. View Abstract
124. 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
125. Transcriptional profile of postmortem skeletal muscle. Physiol Genomics. 2004 Jan 15; 16(2):222-8. View Abstract
126. Expression profiling and identification of novel genes involved in myogenic differentiation. FASEB J. 2004 Feb; 18(2):403-5. View Abstract
127. 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
128. 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
129. 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
130. Minimal haplotype tagging. Proc Natl Acad Sci U S A. 2003 Aug 19; 100(17):9900-5. View Abstract
131. Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy. Neuromuscul Disord. 2003 Aug; 13(6):456-67. View Abstract
132. 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
133. Reproducibility of gene expression across generations of Affymetrix microarrays. BMC Bioinformatics. 2003 Jun 25; 4:27. View Abstract
134. Muscular dystrophies: genes to pathogenesis. Curr Opin Genet Dev. 2003 Jun; 13(3):231-8. View Abstract
135. Gene expression profiling of Duchenne muscular dystrophy skeletal muscle. Neurogenetics. 2003 Aug; 4(4):163-71. View Abstract
136. 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
137. The dystrophin associated protein complex in zebrafish. Hum Mol Genet. 2003 Mar 15; 12(6):601-15. View Abstract
138. 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
139. 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
140. Molecular profiles of inflammatory myopathies. Neurology. 2002 Oct 22; 59(8):1170-82. View Abstract
141. 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
142. The genetics of exceptional human longevity. J Mol Neurosci. 2002 Aug-Oct; 19(1-2):233-8. View Abstract
143. 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
144. 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
145. The genetics of aging. Curr Opin Genet Dev. 2002 Jun; 12(3):362-9. View Abstract
146. Microarray analysis of normal and dystrophic skeletal muscle. Int J Dev Neurosci. 2002 Jun-Aug; 20(3-5):359-65. View Abstract
147. 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
148. The genetics of exceptional human longevity. J Am Geriatr Soc. 2002 Feb; 50(2):359-68. View Abstract
149. Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. BMC Genet. 2001; 2:17. View Abstract
150. Dystrophin and muscular dystrophy: past, present, and future. Mol Genet Metab. 2001 Sep-Oct; 74(1-2):75-88. View Abstract
151. 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
152. 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
153. 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
154. 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
155. 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
156. Mutations in the caveolin-3 gene: When are they pathogenic? Am J Med Genet. 2001 Apr 01; 99(4):303-7. View Abstract
157. 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
158. Analysis of human sarcospan as a candidate gene for CFEOM1. BMC Genet. 2001; 2:3. View Abstract
159. 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
160. 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
161. Exceptional familial clustering for extreme longevity in humans. J Am Geriatr Soc. 2000 Nov; 48(11):1483-5. View Abstract
162. 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
163. Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations. Muscle Nerve. 2000 May; 23(5):807-10. View Abstract
164. Evolutionary divergence of the mouse and human Lgn1/SMA repeat structures. Genomics. 2000 Feb 15; 64(1):62-81. View Abstract
165. 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
166. 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
167. Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein. J Cell Biol. 2000 Jan 10; 148(1):115-26. View Abstract
168. Centenarians and the genetics of longevity. Results Probl Cell Differ. 2000; 29:1-20. View Abstract
169. 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
170. Dystrophin expression in the mdx mouse restored by stem cell transplantation. Nature. 1999 Sep 23; 401(6751):390-4. View Abstract
171. Comparative sequence analysis of the mouse and human Lgn1/SMA interval. Genomics. 1999 Sep 01; 60(2):137-51. View Abstract
172. 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
173. Caveolin-3 deficiency as a cause of limb-girdle muscular dystrophy. J Child Neurol. 1999 Jan; 14(1):33-4. View Abstract
174. Molecular organization of sarcoglycan complex in mouse myotubes in culture. J Cell Biol. 1998 Dec 28; 143(7):2033-44. View Abstract
175. Dystrophin and Dp140 in the adult rodent kidney. Lab Invest. 1998 Dec; 78(12):1543-51. View Abstract
176. 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
177. Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. Nat Genet. 1998 Sep; 20(1):83-6. View Abstract
178. 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
179. 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
180. Caveolin-3 in muscular dystrophy. Hum Mol Genet. 1998 May; 7(5):871-7. View Abstract
181. Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene. FEBS Lett. 1998 Jan 23; 422(1):27-32. View Abstract
182. The concomitant use of dystrophin and utrophin/dystrophin related protein antibodies to reduce misdiagnosis of Duchenne/Becker muscular dystrophy. Biochem Biophys Res Commun. 1997 Dec 18; 241(2):232-5. View Abstract
183. beta-dystrobrevin, a new member of the dystrophin family. Identification, cloning, and protein associations. J Biol Chem. 1997 Dec 12; 272(50):31561-9. View Abstract
184. Dystrobrevin and dystrophin: an interaction through coiled-coil motifs. Proc Natl Acad Sci U S A. 1997 Nov 11; 94(23):12413-8. View Abstract
185. Dp140: alternatively spliced isoforms in brain and kidney. Genomics. 1997 Oct 01; 45(1):132-9. View Abstract
186. The fate of individual myoblasts after transplantation into muscles of DMD patients. Nat Med. 1997 Sep; 3(9):970-7. View Abstract
187. Aberrations of the B-cell receptor B29 (CD79b) gene in chronic lymphocytic leukemia. Blood. 1997 Aug 15; 90(4):1387-94. View Abstract
188. In vitro expressed dystrophin fragments do not associate with each other. FEBS Lett. 1997 Jun 30; 410(2-3):153-9. View Abstract
189. Dystrophies and heart disease. Curr Opin Cardiol. 1997 May; 12(3):329-43. View Abstract
190. The genomic organization of human dystrobrevin. Neurogenetics. 1997 May; 1(1):37-42. View Abstract
191. Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. Am J Hum Genet. 1997 Apr; 60(4):790-7. View Abstract
192. Molecular characterization of Br-cadherin, a developmentally regulated, brain-specific cadherin. Proc Natl Acad Sci U S A. 1997 Mar 18; 94(6):2398-403. View Abstract
193. Whole-body FDG-PET imaging for staging of Hodgkin's disease and lymphoma. J Nucl Med. 1997 Mar; 38(3):343-8. View Abstract
194. A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions. Hum Mol Genet. 1997 Feb; 6(2):229-36. View Abstract
195. The mouse region syntenic for human spinal muscular atrophy lies within the Lgn1 critical interval and contains multiple copies of Naip exon 5. Genomics. 1996 Dec 15; 38(3):405-17. View Abstract
196. Beyond dystrophin: current progress in the muscular dystrophies. Curr Opin Pediatr. 1996 Dec; 8(6):569-82. View Abstract
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249. Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. Am J Hum Genet. 1990 Apr; 46(4):672-81. View Abstract
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263. Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus. Nature. 1989 Apr 06; 338(6215):509-11. View Abstract
264. Molecular deletion patterns in Duchenne and Becker type muscular dystrophy. Hum Genet. 1989 Mar; 81(4):343-8. View Abstract
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266. Conversion of mdx myofibres from dystrophin-negative to -positive by injection of normal myoblasts. Nature. 1989 Jan 12; 337(6203):176-9. View Abstract
267. 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. View Abstract
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271. The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs. Nature. 1988 Jul 14; 334(6178):154-6. View Abstract
272. Cell and fiber-type distribution of dystrophin. Neuron. 1988 Jul; 1(5):411-20. View Abstract
273. Genetic mapping of the Wiskott-Aldrich syndrome with two highly-linked polymorphic DNA markers. Genomics. 1988 Jul; 3(1):39-43. View Abstract
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275. Evidence for the association of dystrophin with the transverse tubular system in skeletal muscle. J Biol Chem. 1988 Jun 15; 263(17):8480-4. View Abstract
276. Localization of the McLeod locus (XK) within Xp21 by deletion analysis. Am J Hum Genet. 1988 May; 42(5):703-11. View Abstract
277. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell. 1988 Apr 22; 53(2):219-28. View Abstract
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279. 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. View Abstract
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