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Annals of Neurology|February 1, 1996
Clinical heterogeneity of adhalin deficiencyL Morandi, R Barresi, C Di Blasi, et al.Neuromuscular Disorders : NMD|March 3, 2015
Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian familyI Colombo, S Pagliarani, S Testolin, et al.Human Mutation|October 15, 2008
Transcriptional behavior of DMD gene duplications in DMD/BMD malesF Gualandi, M Neri, M Bovolenta, et al.Journal of Neurology, Neurosurgery, and Psychiatry|February 25, 2009
Risk of arrhythmia in type I myotonic dystrophy: the role of clinical and genetic variablesP Cudia, P Bernasconi, R Chiodelli, et al.American Journal of Human Genetics|March 31, 2000
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophyM Raffaele Di Barletta, E Ricci, G Galluzzi, et al.The Journal of Physiology|June 23, 2015
ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlationP Imbrici, L Maggi, G F Mangiatordi, et al.Nature Genetics|June 30, 2001
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondriaJ N Spelbrink, F Y Li, V Tiranti, et al.Neuromuscular Disorders : NMD|June 26, 2012
Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiencyM Pane, S Messina, G Vasco, et al.Neuropathology and Applied Neurobiology|June 3, 2017
Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)M Ripolone, R Violano, D Ronchi, et al.Journal of Neurology|November 15, 2011
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 yearsC Angelini, C Semplicini, S Ravaglia, et al.Pageof 11