Louis Kunkel, PhD

Affiliations: 
Genetics Childrens Hospital, St. Louis, MO, United States 
Area:
Human genetics, muscular dystrophy
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"Louis Kunkel"
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Publications

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Widrick JJ, Kawahara G, Alexander MS, et al. (2019) Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens. Journal of Neuromuscular Diseases
Bruels CC, Li C, Mendoza T, et al. (2019) Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. Molecular Genetics & Genomic Medicine. e552
Saha M, Reddy HM, Salih MA, et al. (2018) Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. Physiological Genomics. 50: 929-939
Widrick JJ, Gibbs DE, Sanchez B, et al. (2018) An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish. Plos One. 13: e0199712
Reddy HM, Cho KA, Lek M, et al. (2016) The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. Journal of Human Genetics
Reddy HM, Hamed SA, Lek M, et al. (2016) A homozygous nonsense mutation in SGCA is a common cause of LGMD in Assiut, Egypt. Muscle & Nerve
Vieira NM, Elvers I, Alexander MS, et al. (2015) Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype. Cell. 163: 1204-13
Guiraud S, Aartsma-Rus A, Vieira NM, et al. (2015) The Pathogenesis and Therapy of Muscular Dystrophies. Annual Review of Genomics and Human Genetics
Vieira NM, Guo LT, Estrela E, et al. (2015) Muscular dystrophy in a family of Labrador Retrievers with no muscle dystrophin and a mild phenotype. Neuromuscular Disorders : Nmd. 25: 363-70
Lek A, Rahimov F, Jones PL, et al. (2015) Emerging preclinical animal models for FSHD. Trends in Molecular Medicine. 21: 295-306
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