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Movement Disorders : Official Journal of the Movement Disorder Society|June 7, 2024
MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX StudyAlessandra Scaravilli, Davide Negroni, Claudio Senatore, et al.Brain : a Journal of Neurology|December 21, 2013
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrumMatthis Synofzik, Michael A Gonzalez, Charles Marques Lourenco, et al.JAMA Neurology|August 13, 2019
Association of CAG Repeats With Long-term Progression in Huntington DiseaseDouglas R Langbehn, Julie C Stout, Sarah Gregory, et al.Journal of Neurology, Neurosurgery, and Psychiatry|February 12, 2015
Short-interval observational data to inform clinical trial design in Huntington's diseaseNicola Z Hobbs, Ruth E Farmer, Elin M Rees, et al.Neurobiology of Disease|June 14, 2024
Decreasing ganglioside synthesis delays motor and cognitive symptom onset in Spg11 knockout miceManon Fortier, Margaux Cauhapé, Suzie Buono, et al.Human Brain Mapping|August 2, 2016
Natural variation in sensory-motor white matter organization influences manifestations of Huntington's diseaseMichael Orth, Sarah Gregory, Rachael I Scahill, et al.Cell Reports|January 31, 2019
Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial DiseaseJacqueline M Ward, Colleen A Stoyas, Pawel M Switonski, et al.Nature Communications|July 2, 2025
Cell-specific mechanisms drive connectivity across the time course of Huntington's diseaseCarlos Estevez-Fraga, Isaac Sebenius, Justine Y Hansen, et al.Movement Disorders : Official Journal of the Movement Disorder Society|April 25, 2017
A randomized, double-blind, placebo-controlled trial evaluating cysteamine in Huntington's diseaseChristophe Verny, Anne-Catherine Bachoud-Lévi, Alexandra Durr, et al.Brain : a Journal of Neurology|December 20, 2019
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanismsVincent Huin, Mathieu Barbier, Armand Bottani, et al.Pageof 33