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Journal of Child Neurology|September 1, 2007
Perspectives on clinical trials in spinal muscular atrophyKathryn J Swoboda, John T Kissel, Thomas O Crawford, et al.Muscle & Nerve|August 26, 2010
Compound muscle action potential and motor function in children with spinal muscular atrophyAga Lewelt, Kristin J Krosschell, Charles Scott, et al.Plos One|September 3, 2010
SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophyKathryn J Swoboda, Charles B Scott, Thomas O Crawford, et al.Plos One|May 15, 2009
Phase II open label study of valproic acid in spinal muscular atrophyKathryn J Swoboda, Charles B Scott, Sandra P Reyna, et al.Plos One|July 15, 2011
SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophyJohn T Kissel, Charles B Scott, Sandra P Reyna, et al.Muscle & Nerve|May 18, 2013
SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophyJohn T Kissel, Bakri Elsheikh, Wendy M King, et al.Muscle & Nerve|August 24, 2017
Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type IKristin J Krosschell, John T Kissel, Elise L Townsend, et al.The New England Journal of Medicine|February 7, 2009
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardationFadi F Hamdan, Julie Gauthier, Dan Spiegelman, et al.American Journal of Human Genetics|March 8, 2011
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disabilityFadi F Hamdan, Julie Gauthier, Yoichi Araki, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2019
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathyRené G Feichtinger, Bettina E Mucha, Holger Hengel, et al.Pageof 3