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JAMA Neurology|December 3, 2017
Early Cognitive, Structural, and Microstructural Changes in Presymptomatic C9orf72 Carriers Younger Than 40 YearsAnne Bertrand, Junhao Wen, Daisy Rinaldi, et al.Journal of Neurology|June 16, 2026
Cerebellar cognitive-affective syndrome in Friedreich AtaxiaEmilien Petit, Sabrina Sayah, Elisabetta Indelicato, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 24, 2022
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?Mathieu Barbier, Claire-Sophie Davoine, Emilien Petit, et al.Neurology|August 12, 2024
Longitudinal Changes of Clinical, Imaging, and Fluid Biomarkers in Preataxic and Early Ataxic Spinocerebellar Ataxia Type 2 and 7 CarriersGiulia Coarelli, Charlotte Dubec-Fleury, Emilien Petit, et al.The Lancet Regional Health. Europe|January 5, 2026
Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA studyMarcus Grobe-Einsler, Stéphanie Borel, Maresa Buchholz, et al.Brain : a Journal of Neurology|November 17, 2021
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxiaMarie Coutelier, Maxime Jacoupy, Alexandre Janer, et al.Cerebellum (London, England)|May 22, 2026
A Patient-Reported Outcome Measure of Communication Difficulties in Friedreich Ataxia: COMATAXMaresa Buchholz, Victoire Monier, Claire Ewenczyk, et al.Pageof 2