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Neurology|May 9, 2014
Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonusLaura Canafoglia, Angela Robbiano, Davide Pareyson, et al.Journal of the Neurological Sciences|December 21, 2010
Lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive of Gerstmann-Sträussler-Scheinker disease Pro102LeuEttore Salsano, Roberto Fancellu, Giuseppe Di Fede, et al.La Radiologia Medica|July 2, 2024
Tracking longitudinal thalamic volume changes during early stages of SCA1 and SCA2Marina Grisoli, Anna Nigri, Jean Paul Medina Carrion, et al.Stem Cell Research|December 24, 2022
Generation of an iPSC line from a patient with spastic paraplegia type 10 carrying a novel mutation in KIF5A geneSerena Santangelo, Patrizia Bossolasco, Stefania Magri, et al.Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|May 15, 2020
Cortical network dysfunction revealed by magnetoencephalography in carriers of spinocerebellar ataxia 1 or 2 mutationElisa Visani, Caterina Mariotti, Lorenzo Nanetti, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 16, 2020
Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian populationAlessia Mongelli, Stefania Magri, Elena Salvatore, et al.Movement Disorders : Official Journal of the Movement Disorder Society|March 14, 2012
Erythropoietin in Friedreich ataxia: no effect on frataxin in a randomized controlled trialCaterina Mariotti, Roberto Fancellu, Serena Caldarazzo, et al.Orphanet Journal of Rare Diseases|August 15, 2013
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoproteinLorenzo Nanetti, Simona Cavalieri, Viviana Pensato, et al.Investigative Ophthalmology & Visual Science|May 20, 2016
MRI Evidence of Cerebellar and Extraocular Muscle Atrophy Differently Contributing to Eye Movement Abnormalities in SCA2 and SCA28 DiseasesLetterio Salvatore Politi, Stefania Bianchi Marzoli, Claudia Godi, et al.Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|May 22, 2025
Neuromagnetic responses to multimodal stimuli in Friedreich's ataxiaElisa Visani, Laura Canafoglia, Lorenzo Nanetti, et al.Pageof 7