Showing results (61-70 of 76) with videos related to
Sort By:
Pageof 8
Human Molecular Genetics|November 1, 1996
Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophyE M McNally, D Duggan, J R Gorospe, et al.Neurology|December 24, 2010
SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophyE Pegoraro, E P Hoffman, L Piva, et al.Neurology|April 1, 1995
Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonucleiE Pegoraro, R N Schimke, C Garcia, et al.Journal of Neurology|July 11, 2025
Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfaT Mongini, G Gadaleta, P Alonge, 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.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.Journal of Neurology, Neurosurgery, and Psychiatry|March 19, 2015
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk populationO Musumeci, G la Marca, M Spada, et al.Neurology|July 23, 1998
Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patientsE Pegoraro, H Marks, C A Garcia, et al.Neurology|March 23, 2007
Phenotypic clustering of lamin A/C mutations in neuromuscular patientsS Benedetti, I Menditto, M Degano, et al.Neurology|September 8, 2010
Congenital muscular dystrophies with cognitive impairment. A population studyS Messina, C Bruno, I Moroni, et al.Pageof 8