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Muscle & Nerve|July 25, 2014
Outcome reliability in non-ambulatory boys/men with Duchenne muscular dystrophyAnne M Connolly, Elizabeth C Malkus, Jerry R Mendell, et al.Neurology|August 1, 2014
Observational study of spinal muscular atrophy type I and implications for clinical trialsRichard S Finkel, Michael P McDermott, Petra Kaufmann, et al.The Journal of Clinical Investigation|November 2, 2016
Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunityMichel J Massaad, Jia Zhou, Daisuke Tsuchimoto, et al.Muscle & Nerve|March 2, 2016
Clinical trial readiness in non-ambulatory boys and men with duchenne muscular dystrophy: MDA-DMD network follow-upAnne M Connolly, Julaine M Florence, Craig M Zaidman, et al.Annals of Clinical and Translational Neurology|August 31, 2024
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophyShruthi Mohan, Shannon McNulty, Courtney Thaxton, et al.Biorxiv : the Preprint Server for Biology|May 20, 2024
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular DystrophyShruthi Mohan, Shannon McNulty, Courtney Thaxton, et al.Annals of Clinical and Translational Neurology|June 23, 2022
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophyChristine C Bruels, Hannah R Littel, Audrey L Daugherty, et al.Annals of Clinical and Translational Neurology|April 16, 2025
Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium StudyStephanie M Hunn, Lindsay N Alfano, Aileen Jones, et al.American Journal of Human Genetics|May 5, 2018
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor NeuronopathyDavid T Burns, Sandra Donkervoort, Juliane S Müller, et al.Neurology|October 19, 2012
Prospective cohort study of spinal muscular atrophy types 2 and 3Petra Kaufmann, Michael P McDermott, Basil T Darras, et al.Pageof 15