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Brain : a Journal of Neurology|December 20, 2021
Motor neuron pathology in CANVAS due to RFC1 expansionsVincent Huin, Giulia Coarelli, Clément Guemy, et al.
Human Mutation|October 17, 2017
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56Christelle M Durand, Laura Dhers, Christelle Tesson, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 10, 2025
Analysis of a Modified Version of the Inventory of Non-Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS StudyStella Andrea Lischewski, Imis Dogan, Paola Giunti, et al.
Brain : a Journal of Neurology|May 15, 2009
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5Cyril Goizet, Amir Boukhris, Alexandra Durr, et al.
Annals of Neurology|April 5, 2016
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseasesConceição Bettencourt, Davina Hensman-Moss, Michael Flower, et al.
Annals of Neurology|January 3, 2013
Mutations in KCND3 cause spinocerebellar ataxia type 22Yi-Chung Lee, Alexandra Durr, Karen Majczenko, et al.
Annals of Clinical and Translational Neurology|August 29, 2023
Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onsetLuca Porcu, Mario Fichera, Lorenzo Nanetti, et al.
Orphanet Journal of Rare Diseases|October 30, 2013
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progressionCyril Mignot, Emmanuelle Apartis, Alexandra Durr, et al.
Annals of Neurology|October 5, 2012
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging FindingsFanny Mochel, Raphael Schiffmann, Marjan E Steenweg, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 27, 2012
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 geneDomitille Gras, Laurence Jonard, Emmanuel Roze, et al.
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