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Brain : a Journal of Neurology|October 28, 2005
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2Claudia Cagnoli, Caterina Mariotti, Franco Taroni, et al.Human Mutation|September 26, 2018
Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentationStefania Magri, Valentina Fracasso, Massimo Plumari, et al.Journal of Neurochemistry|January 15, 2009
Pleiotropic effects of spastin on neurite growth depending on expression levelsElena Riano, Monica Martignoni, Giuseppe Mancuso, et al.Movement Disorders : Official Journal of the Movement Disorder Society|February 17, 2023
Complex Ataxia-Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar AtaxiaLorenzo Nanetti, Stefania Magri, Mario Fichera, et al.Frontiers in Neurology|January 24, 2022
Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the LiteratureLorenzo Nanetti, Daniela Di Bella, Stefania Magri, et al.Neurogenetics|April 6, 2011
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patientsBarbara Castellotti, Caterina Mariotti, Marco Rimoldi, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48Stefania Magri, Lorenzo Nanetti, Cinzia Gellera, et al.Journal of Neurology|December 6, 2018
ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotypeLorenzo Nanetti, Elisa Sarto, Anna Castaldo, et al.Brain : a Journal of Neurology|May 17, 2014
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48Viviana Pensato, Barbara Castellotti, Cinzia Gellera, et al.European Journal of Neurology|November 15, 2020
Hypomyelinating leukodystrophies in adults: Clinical and genetic featuresDaniela Di Bella, Stefania Magri, Chiara Benzoni, et al.Pageof 5