Showing results (161-170 of 182) with videos related to
Sort By:
Pageof 19
Nature Genetics|February 11, 2004
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2Maria-Céu Moreira, Sandra Klur, Mitsunori Watanabe, et al.Human Mutation|July 17, 2013
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12Guida Landouré, Peng-Peng Zhu, Charles M Lourenço, et al.Annals of Neurology|April 12, 2022
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi, et al.JAMA Neurology|February 27, 2018
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia GenesMarie Coutelier, Monia B Hammer, Giovanni Stevanin, et al.Frontiers in Neurology|September 7, 2021
Pathogenic Variants in <i>ABHD16A</i> Cause a Novel Psychomotor Developmental Disorder With Spastic ParaplegiaAshraf Yahia, Liena E O Elsayed, Remi Valter, et al.American Journal of Human Genetics|July 29, 2014
ELOVL5 mutations cause spinocerebellar ataxia 38Eleonora Di Gregorio, Barbara Borroni, Elisa Giorgio, et al.Brain : a Journal of Neurology|December 15, 2007
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degenerationGiovanni Stevanin, Hamid Azzedine, Paola Denora, et al.Journal of Medical Genetics|May 1, 2014
Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6Sophie Tezenas du Montcel, Alexandra Durr, Maria Rakowicz, et al.Neurology|May 10, 2019
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with <i>SPG7</i>Giulia Coarelli, Rebecca Schule, Bart P C van de Warrenburg, et al.Neurogenetics|May 16, 2006
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneityGiovanni Stevanin, Giorgia Montagna, Hamid Azzedine, et al.Pageof 19