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Neurology|October 31, 2014
Dystrophin quantification: Biological and translational research implicationsKaren Anthony, Virginia Arechavala-Gomeza, Laura E Taylor, et al.Nature Genetics|April 24, 2012
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndromeTobias Willer, Hane Lee, Mark Lommel, et al.Journal of Neuromuscular Diseases|November 19, 2016
Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe PhenotypeLaurent Servais, Marie Montus, Caroline Le Guiner, et al.American Journal of Human Genetics|August 24, 2004
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1)Christopher Meredith, Ralf Herrmann, Cheryl Parry, et al.Skeletal Muscle|November 2, 2011
Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disordersKamel Mamchaoui, Capucine Trollet, Anne Bigot, et al.Plos One|April 11, 2015
Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trialAndreea Mihaela Seferian, Amélie Moraux, Aurélie Canal, et al.Human Gene Therapy|December 1, 2022
T Cell Responses to Dystrophin in a Natural History Study of Duchenne Muscular DystrophyKaren Anthony, Pierpaolo Ala, Francesco Catapano, et al.Brain : a Journal of Neurology|January 5, 2013
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophiesSebahattin Cirak, Aileen Reghan Foley, Ralf Herrmann, et al.Human Molecular Genetics|September 24, 2004
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalitiesAndré B P van Kuilenburg, Rutger Meinsma, Eva Beke, et al.Neuromuscular Disorders : NMD|July 20, 2010
Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entityKristl G Claeys, Jean-François Pellissier, Federico Garcia-Bragado, et al.Pageof 16