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Annals of Neurology|May 14, 2020
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency SyndromeA Reghan Foley, Yaqun Zou, James E Dunford, et al.Human Mutation|March 26, 2014
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathyPhillipa J Lamont, William Wallefeld, David Hilton-Jones, et al.Muscle & Nerve|February 18, 2022
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal studyUrsula Moore, Roberto Fernandez-Torron, Marni Jacobs, et al.Journal of Neurology|October 7, 2011
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutationsVelina Guergueltcheva, Juliane S Müller, Marina Dusl, et al.American Journal of Human Genetics|February 12, 2011
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defectJan Senderek, Juliane S Müller, Marina Dusl, et al.Neurology. Genetics|September 8, 2016
The Clinical Outcome Study for dysferlinopathy: An international multicenter studyElizabeth Harris, Catherine L Bladen, Anna Mayhew, et al.American Journal of Human Genetics|February 14, 2017
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive ImpairmentManuela Wiessner, Andreas Roos, Christopher J Munn, et al.Journal of Child Neurology|November 17, 2010
Consensus statement on standard of care for congenital muscular dystrophiesChing H Wang, Carsten G Bonnemann, Anne Rutkowski, et al.Neuromuscular Disorders : NMD|June 4, 2013
Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research NetworkAnne M Connolly, Julaine M Florence, Mary M Cradock, et al.Contemporary Clinical Trials|April 29, 2017
Developing standardized corticosteroid treatment for Duchenne muscular dystrophyMichela Guglieri, Kate Bushby, Michael P McDermott, et al.Pageof 16