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American Journal of Human Genetics|June 11, 2013
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegiaAmir Boukhris, Rebecca Schule, José L Loureiro, et al.Acta Neuropathologica|August 1, 2024
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagyJonasz J Weber, Leah Czisch, Priscila Pereira Sena, et al.American Journal of Human Genetics|April 26, 2016
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie SyndromeSylvie Gerber, Kamil J Alzayady, Lydie Burglen, et al.Brain : a Journal of Neurology|May 31, 2015
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegiaMarie Coutelier, Cyril Goizet, Alexandra Durr, et al.Movement Disorders Clinical Practice|October 27, 2018
Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease ProgressionAlhassane Diallo, Heike Jacobi, Tanja Schmitz-Hübsch, et al.Neurology|October 19, 2012
FXTAS: new insights and the need for revised diagnostic criteriaEmmanuelle Apartis, Anne Blancher, Wassilios G Meissner, et al.Neurogenetics|March 19, 2004
Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16Luc Djoussé, Beth Knowlton, Michael R Hayden, et al.American Journal of Human Genetics|July 29, 2014
ELOVL5 mutations cause spinocerebellar ataxia 38Eleonora Di Gregorio, Barbara Borroni, Elisa Giorgio, 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.Pageof 33