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Acta Neuropathologica Communications|March 22, 2023
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variantNastasia Cardone, Melissa Moula, Rianne J Baelde, et al.Neurology. Genetics|June 8, 2026
Reducing Body Myopathy in Female Patients With <i>FHL1</i> Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy: A Case SeriesGianmarco Severa, Christine Barnerias, Cyril Gitiaux, et al.Respiratory Medicine|March 5, 2018
Airway clearance techniques in neuromuscular disorders: A state of the art reviewMichelle Chatwin, Michel Toussaint, Miguel R Gonçalves, et al.Journal of the Neurological Sciences|December 17, 2008
Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian populationPaola S Denora, Maria Muglia, Carlo Casali, et al.American Journal of Human Genetics|May 31, 2011
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathyRachael M Duff, Valerie Tay, Peter Hackman, et al.Neurology|February 6, 2015
Prevalence of congenital muscular dystrophy in Italy: a population studyAlessandra Graziano, Flaviana Bianco, Adele D'Amico, et al.Pageof 2