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Annals of Neurology|May 27, 2023
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia PatientsAndreas Traschütz, Astrid D Adarmes-Gómez, Mathieu Anheim, et al.Journal of Medical Genetics|May 17, 2023
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in <i>POLR3A</i>, <i>POLR3B</i> and <i>POLR1C</i>Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, et al.Frontiers in Neurology|August 12, 2022
The White Matter Rounds experience: The importance of a multidisciplinary network to accelerate the diagnostic process for adult patients with rare white matter disordersYu Tong Huang, Paul S Giacomini, Rami Massie, et al.Medrxiv : the Preprint Server for Health Sciences|February 26, 2024
Neuroradiological findings in GAA-<i>FGF14</i> ataxia (SCA27B): more than cerebellar atrophyShihan Chen, Catherine Ashton, Rawan Sakalla, et al.Nature Communications|July 8, 2015
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase IIIIsabelle Thiffault, Nicole I Wolf, Diane Forget, et al.American Journal of Human Genetics|April 3, 2004
Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic IsolatesRonald G Lafreniere, Marcia L E MacDonald, Marie-Pierre Dube, et al.Neurology. Genetics|February 25, 2025
Involvement of the Superior Cerebellar Peduncles in GAA-<i>FGF14</i> AtaxiaShihan Chen, Catherine Ashton, Rawan Sakalla, et al.Scientific Reports|June 15, 2023
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27BCéline Bonnet, David Pellerin, Virginie Roth, 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.HGG Advances|July 20, 2025
Comprehensive genotype-phenotype analysis in POLR3-related disordersMackenzie A Michell-Robinson, Stefanie Perrier, Samuel Gauthier, et al.Pageof 19