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Movement Disorders : Official Journal of the Movement Disorder Society|November 24, 2025
A Complex FGF14 (TTC)/(TGC) Repeat Expansion in Parkinson's DiseaseXiaosheng Zheng, Zhidong Cen, Xinhui Chen, et al.
American Journal of Human Genetics|October 20, 2015
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104Myriam Srour, Fadi F Hamdan, Dianalee McKnight, et al.
Cerebellum (London, England)|December 22, 2025
Repeat Expansions in a Chilean Cohort with Adult-Onset Cerebellar AtaxiaM Leonor Bustamante, Marcelo Miranda, David Pellerin, et al.
Frontiers in Neurology|July 12, 2021
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar AtaxiasAndreas Traschütz, Selina Reich, Astrid D Adarmes, et al.
Neurology. Genetics|October 27, 2025
Developing a National Network for Leukodystrophy Research and Care in Canada: The CARELeuko InitiativeAlexandra Chapleau, Adam Le, Justin Simo, et al.
European Journal of Neurology|July 31, 2025
The Two Faces of Pediatric SCA2Nicolas Rive Le Gouard, Maissa G Bah, Giulia Coarelli, et al.
Medrxiv : the Preprint Server for Health Sciences|July 15, 2024
Somatic instability of the <i>FGF14</i> -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellumDavid Pellerin, Jean-Loup Méreaux, Susana Boluda, et al.
Brain : a Journal of Neurology|October 8, 2024
Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellumDavid Pellerin, Jean-Loup Méreaux, Susana Boluda, et al.
Cerebellum (London, England)|July 7, 2022
An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the CaribbeanLaura Bannach Jardim, Ali Hasan, Sheng-Han Kuo, et al.
Neurology|November 13, 2025
Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White MatterRomy J van Voorst, Daphne H Schoenmakers, Joshua L Bonkowsky, et al.
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