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American Journal of Medical Genetics. Part A|August 5, 2010
Unexpected detection of dystrophin gene deletions by array comparative genomic hybridizationCatherine E Cottrell, Thomas W Prior, Robert Pyatt, et al.Journal of Neuromuscular Diseases|November 19, 2016
Spinal Muscular Atrophy Biomarker Measurements from Blood Samples in a Clinical Trial of Valproic Acid in Ambulatory AdultsSamantha R Renusch, Sean Harshman, Hongyang Pi, et al.Pediatric Neurology|July 7, 2019
Impact of Age and Motor Function in a Phase 1/2A Study of Infants With SMA Type 1 Receiving Single-Dose Gene Replacement TherapyLinda P Lowes, Lindsay N Alfano, W David Arnold, et al.Neurology|March 21, 2014
Congenital lethal motor neuron disease with a novel defect in ribosome biogenesisRussell J Butterfield, Tamara J Stevenson, Lingyan Xing, et al.JAMA|November 17, 2005
Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposisKevin Sweet, Joseph Willis, Xiao-Ping Zhou, 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|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.Human Genetics|February 22, 2019
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotypeCorey Ruhno, Vicki L McGovern, Matthew R Avenarius, 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.Pageof 8