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Cerebellum (London, England)|September 5, 2008
Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesisCaterina Mariotti, Alfredo Brusco, Daniela Di Bella, et al.American Journal of Medical Genetics. Part A|August 23, 2019
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutationsMarta Gatti, Stefania Magri, Lorenzo Nanetti, et al.Journal of the Peripheral Nervous System : JPNS|December 17, 2016
Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsyAnna Sagnelli, Giuseppe Piscosquito, Daniela Di Bella, 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.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|May 18, 2022
Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family-causal or casual?Fabiana Colucci, Daniela Di Bella, Chiara Pisciotta, et al.Neurogenetics|June 14, 2019
Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12Jessica Rossi, Francesco Cavallieri, Giada Giovannini, et al.Journal of Neurology|May 18, 2013
Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variantAna Potic, Aleksandra M Pavlovic, Graziella Uziel, 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.Gene|March 5, 2025
A novel de novo GFAP variant causes a juvenile-onset Alexander disease with bilateral vocal cord paralysisMuhammad Abrar Yousaf, Arianna Scartezzini, Chiara Colombo, 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.Pageof 5