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Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|July 22, 2015
Idiopathic pes cavus in adults is not associated with neurophysiological impairment in the lower limbsRoberto Di Fabio, Ludovico Lispi, Filippo Maria Santorelli, et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie|January 3, 2025
Dapagliflozin ameliorates Lafora disease phenotype in a zebrafish modelStefania Della Vecchia, Paola Imbrici, Antonella Liantonio, et al.
Journal of Clinical Medicine|April 27, 2024
Primary Coenzyme Q10 Deficiency-Related AtaxiasPiervito Lopriore, Marco Vista, Alessandra Tessa, et al.
Frontiers in Neurology|February 8, 2021
Genetics Influences Drug Consumption in Medication Overuse Headache, Not in Migraine: Evidence From Wolframin His611Arg Polymorphism AnalysisCherubino Di Lorenzo, Giorgio Di Lorenzo, Gianluca Coppola, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 24, 2018
A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotypeGiulia Iapadre, Giovanni Morana, Maria Stella Vari, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|March 31, 2019
Degenerative and acquired sporadic adult onset ataxiaMaria Lieto, Alessandro Roca, Filippo Maria Santorelli, et al.
Journal of the Neurological Sciences|April 18, 2021
Neuroimaging patterns in paediatric onset hereditary spastic paraplegiasClaudia Dosi, Rosa Pasquariello, Chiara Ticci, et al.
Human Mutation|January 3, 2013
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architectureAlessandro Romano, Alessandra Tessa, Amilcare Barca, et al.
European Journal of Medical Genetics|December 1, 2018
Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disordersMario Mastrangelo, Stefano Sartori, Alessandro Simonati, et al.
Neuromuscular Disorders : NMD|September 24, 2009
Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 geneMichela Catteruccia, Tommaso Sanna, Filippo Maria Santorelli, et al.
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