Showing results (121-130 of 327) with videos related to
Sort By:
Pageof 33
Movement Disorders : Official Journal of the Movement Disorder Society|March 17, 2015
In vivo neurometabolic profiling in patients with spinocerebellar ataxia types 1, 2, 3, and 7Isaac M Adanyeguh, Pierre-Gilles Henry, Tra M Nguyen, et al.Clinical Genetics|May 13, 2023
Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxiaFlorence Riant, Lydie Burglen, Michaelle Corpechot, et al.Journal of Huntington'S Disease|July 27, 2014
Quality of life in Huntington's disease: a comparative study investigating the impact for those with pre-manifest and early manifest disease, and their partnersJoy Read, Rebecca Jones, Gail Owen, et al.JAMA Neurology|October 5, 2017
Survival End Points for Huntington Disease Trials Prior to a Motor DiagnosisJeffrey D Long, James A Mills, Blair R Leavitt, et al.Movement Disorders : Official Journal of the Movement Disorder Society|January 30, 2015
The impact of rare variants in FUS in essential tremorFranziska Hopfner, Giovanni Stevanin, Stefanie H Müller, et al.JAMA Ophthalmology|February 29, 2024
ATXN7-Related Cone-Rod Dystrophy: The Integrated Functional Evaluation of the Cerebellum (CERMOI) StudyMarco Nassisi, Giulia Coarelli, Benoit Blanchard, et al.Movement Disorders : Official Journal of the Movement Disorder Society|October 6, 2020
Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and RecommendationsSantiago Perez-Lloret, Bart van de Warrenburg, Malco Rossi, et al.American Journal of Human Genetics|October 13, 2015
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar AtaxiaMarie Coutelier, Iulia Blesneac, Arnaud Monteil, et al.Archives of Neurology|May 10, 2006
Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneityAlexander Lossos, Giovanni Stevanin, Vardiella Meiner, et al.Neurobiology of Aging|June 5, 2012
EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?Suzanne Lesage, Christel Condroyer, Stephan Klebe, et al.Pageof 33