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Journal of Personalized Medicine|November 24, 2020
Multi-Omics Identifies Circulating miRNA and Protein Biomarkers for Facioscapulohumeral DystrophyChristopher R Heier, Aiping Zhang, Nhu Y Nguyen, et al.Journal of Neuromuscular Diseases|June 14, 2021
A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD TrialRichard S Finkel, Craig M McDonald, H Lee Sweeney, et al.Human Molecular Genetics|March 24, 2020
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron contentRosa Woldegebriel, Jouni Kvist, Noora Andersson, et al.Orphanet Journal of Rare Diseases|November 19, 2015
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthEmily J Todd, Kyle S Yau, Royston Ong, et al.Muscle & Nerve|July 6, 2023
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE studyThomas O Crawford, Kathryn J Swoboda, Darryl C De Vivo, et al.American Journal of Human Genetics|May 6, 2014
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apneaFan Xia, Matthew N Bainbridge, Tiong Yang Tan, et al.Nature Genetics|May 1, 2012
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degenerationJijun Wan, Michael Yourshaw, Hafsa Mamsa, et al.Plos Medicine|September 21, 2020
Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension studyEdward C Smith, Laurie S Conklin, Eric P Hoffman, et al.Neuromuscular Disorders : NMD|November 10, 2019
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE studyDarryl C De Vivo, Enrico Bertini, Kathryn J Swoboda, et al.Brain : a Journal of Neurology|June 22, 2017
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disabilityEmil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, et al.Pageof 16