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European Journal of Neurology|February 25, 2009
TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutationsR Del Bo, S Ghezzi, S Corti, 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.Journal of Human Genetics|November 18, 2011
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type IIIAmira Mili, Ilhem Ben Charfeddine, Ons Mamaï, et al.Journal of the Neurological Sciences|October 13, 2010
New molecular findings in congenital myopathies due to selenoprotein N gene mutationsR Cagliani, M E Fruguglietti, A Berardinelli, et al.Journal of Neurology|October 13, 2001
Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluationM Sciacco, A Prelle, G P Comi, et al.Molecular Biology and Evolution|February 10, 2012
A trans-specific polymorphism in ZC3HAV1 is maintained by long-standing balancing selection and may confer susceptibility to multiple sclerosisR Cagliani, F R Guerini, M Fumagalli, 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, 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.Journal of Neurology|August 18, 2022
Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohortV Montano, P Lopriore, F Gruosso, et al.Neurology|September 8, 2010
Congenital muscular dystrophies with cognitive impairment. A population studyS Messina, C Bruno, I Moroni, et al.Pageof 10