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Skeletal Muscle|June 25, 2014
Kelch proteins: emerging roles in skeletal muscle development and diseasesVandana A Gupta, Alan H BeggsHuman Molecular Genetics|February 20, 2014
Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathyLaura L Smith, Vandana A Gupta, Alan H BeggsJournal of Visualized Experiments : Jove|January 1, 2014
Analysis of skeletal muscle defects in larval zebrafish by birefringence and touch-evoke escape response assaysLaura L Smith, Alan H Beggs, Vandana A GuptaClinical Genetics|August 23, 2021
Bi-allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second familyUdhaya Kotecha, Mehul Mistri, Nidhi Shah, et al.Journal of Child Neurology|March 24, 2023
Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient DataBriana Christophers, Michael A Lopez, Vandana A Gupta, et al.Plos One|February 28, 2017
A novel early onset phenotype in a zebrafish model of merosin deficient congenital muscular dystrophySarah J Smith, Jeffrey C Wang, Vandana A Gupta, et al.Clinical Genetics|January 4, 2025
A Splice Site Variant in SENP7 Results in a Severe Form of ArthrogryposisUdhaya Kotecha, Euri S Kim, Parth S Shah, et al.Human Molecular Genetics|April 16, 2019
Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in nemaline myopathyCaroline Jirka, Jasmine H Pak, Claire A Grosgogeat, et al.Human Molecular Genetics|January 20, 2023
NRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathyJennifer G Casey, Euri S Kim, Remi Joseph, et al.Human Molecular Genetics|July 25, 2014
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6)Nisha Patel, Laura L Smith, Eissa Faqeih, et al.Pageof 4