Showing results (31-40 of 39) with videos related to
Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 39 results.
Journal of Neurology|July 22, 2021
Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutationsGiovanna De Michele, Daniele Galatolo, Serena Galosi, et al.Brain : a Journal of Neurology|April 15, 2014
Narcolepsy is a common phenotype in HSAN IE and ADCA-DNKeivan Kaveh Moghadam, Fabio Pizza, Chiara La Morgia, et al.American Journal of Human Genetics|February 21, 2012
Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver diseaseMarialuisa Quadri, Antonio Federico, Tianna Zhao, et al.International Journal of Molecular Sciences|August 27, 2021
NGS in Hereditary Ataxia: When Rare Becomes FrequentDaniele Galatolo, Giovanna De Michele, Gabriella Silvestri, et al.Journal of Neurology|September 6, 2021
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature reviewStefania Della Vecchia, Alessandra Tessa, Claudia Dosi, et al.Genes|February 25, 2023
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of <i>RYR1</i>-Related MyopathiesClaudia Dosi, Anna Rubegni, Jacopo Baldacci, et al.Journal of Neurology|June 17, 2024
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohortSara Satolli, Salvatore Rossi, Elisa Vegezzi, et al.Neurology. Genetics|April 4, 2022
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY NetworkSalvatore Rossi, Anna Rubegni, Vittorio Riso, et al.Frontiers in Neurology|December 20, 2018
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional StudyAngelica D'Amore, Alessandra Tessa, Carlo Casali, et al.Pageof 4