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European Journal of Human Genetics : EJHG|March 10, 2016
Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathyJaya Punetha, Simin Mansoor, Tulio E Bertorini, et al.Pediatric Neurology|December 9, 2014
Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity PredominanceJaya Punetha, Soledad Monges, Maria Emilia Franchi, et al.Muscle & Nerve|June 28, 2016
Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defectsJaya Punetha, Akanchha Kesari, Eric P Hoffman, et al.Annals of Neurology|February 3, 2015
Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History StudyLuca Bello, Akanchha Kesari, Heather Gordish-Dressman, et al.European Journal of Human Genetics : EJHG|September 4, 2014
Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spineGina L O'Grady, Heather A Best, Emily C Oates, et al.Handbook of Experimental Pharmacology|August 4, 2019
Pharmacotherapy of Duchenne Muscular DystrophyEric P HoffmanActa Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|January 18, 2021
Causes of clinical variability in Duchenne and Becker muscular dystrophies and implications for exon skipping therapiesEric P HoffmanThe FEBS Journal|July 2, 2020
The discovery of dystrophin, the protein product of the Duchenne muscular dystrophy geneEric P HoffmanNeuromuscular Disorders : NMD|March 13, 2013
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathiesNigel F Clarke, Kimberly Amburgey, James Teener, et al.Physiological Genomics|May 12, 2018
Mechanisms of allelic and clinical heterogeneity of lamin A/C phenotypesJelena Perovanovic, Eric P HoffmanPageof 37