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Journal of Neurology, Neurosurgery, and Psychiatry|June 5, 2024
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across ItalyAlessandro Bertini, Luca Gentile, Tiziana Cavallaro, et al.Brain : a Journal of Neurology|April 19, 2016
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre studyMatthis Synofzik, Katrien Smets, Martial Mallaret, et al.Annals of Neurology|March 29, 2020
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic NeuropathyLeonardo Caporali, Stefania Magri, Andrea Legati, et al.Neuropathology and Applied Neurobiology|July 29, 2022
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatmentChiara Fiorillo, Giovanna Capodivento, Alessandro Geroldi, et al.Journal of Neurology, Neurosurgery, and Psychiatry|June 7, 2019
Expanding the spectrum of genes responsible for hereditary motor neuropathiesStefano C Previtali, Edward Zhao, Dejan Lazarevic, et al.European Journal of Neurology|May 12, 2023
Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT RegistryChiara Pisciotta, Alessandro Bertini, Irene Tramacere, et al.Annals of Clinical and Translational Neurology|December 10, 2019
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrumMarisa I Mendes, Lydia M C Green, Enrico Bertini, et al.Annals of Neurology|April 28, 2020
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 PatientsAndreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, et al.Annals of Neurology|May 10, 2019
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)Davide Pareyson, Tanya Stojkovic, Mary M Reilly, et al.Brain : a Journal of Neurology|July 14, 2023
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosisNatalia Dominik, Stefania Magri, Riccardo Currò, et al.Pageof 6