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Human Molecular Genetics|October 2, 2003
Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domainsHugo Lavoie, Francois Debeane, Quoc-Dien Trinh, et al.
The Israel Medical Association Journal : IMAJ|January 24, 2014
Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster?Sergiu C Blumen, Anat Kesler, Ron Dabby, et al.
Annals of Neurology|February 26, 2005
Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathyAntoine Duquette, Katel Roddier, Julia McNabb-Baltar, et al.
The American Journal of Pathology|January 19, 2020
BAG3<sup>P215L/KO</sup> Mice as a Model of BAG3<sup>P209L</sup> Myofibrillar MyopathyRebecca Robertson, Talita C Conte, Marie-Josée Dicaire, et al.
Frontiers in Neurology|April 20, 2023
Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencingStefanie Perrier, Kether Guerrero, Luan T Tran, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|December 2, 2024
Rare Spinocerebellar Ataxia Types in Canada: A Case Series and Review of the LiteratureSohaila Alshimemeri, Lamya Alsaghan, Danah Abo Alsamh, et al.
Neurogenetics|July 20, 2010
Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31Geneviève Bernard, Isabelle Thiffault, Martine Tetreault, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 24, 2024
Sacsin levels in PBMCs: A diagnostic assay for SACS variants in peripheral blood cells - A PROSPAX studyCeren Tunca, Eylül Ece İşlek Camadan, Natalia Smolina, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|February 21, 2009
Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuliMarco L Loggia, M Catherine Bushnell, Martine Tétreault, et al.
Brain : a Journal of Neurology|May 11, 2023
GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment responseCarlo Wilke, David Pellerin, David Mengel, et al.
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