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Brain : a Journal of Neurology|June 7, 2023
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variantsChristopher J Record, Mariola Skorupinska, Matilde Laura, 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.Neurobiology of Aging|September 24, 2016
TYROBP genetic variants in early-onset Alzheimer's diseaseCyril Pottier, Thomas A Ravenscroft, Patricia H Brown, et al.The New England Journal of Medicine|June 23, 2021
Developmental Consequences of Defective ATG7-Mediated Autophagy in HumansJack J Collier, Claire Guissart, Monika Oláhová, et al.Annals of Neurology|September 12, 2024
Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B)Widad Abou Chaar, Anirudh N Eranki, Hannah A Stevens, 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.Journal of Neurology, Neurosurgery, and Psychiatry|January 7, 2026
Spectrum of dominant Charcot-Marie-Tooth disease due to <i>SLC12A6</i> variantsChristopher J Record, Tiffany Grider, Adriana P Rebelo, et al.American Journal of Human Genetics|March 3, 2018
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2Petra Lassuthova, Adriana P Rebelo, Gianina Ravenscroft, 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.Pageof 15