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Neurology. Genetics|January 18, 2024
Biallelic <i>SOX8</i> Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian DysfunctionJodi Warman-Chardon, Taila Hartley, Aren Elizabeth Marshall, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 20, 2023
Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B)Thomas Wirth, Guillemette Clément, Clarisse Delvallée, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 7, 2012
Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)Martine Girard, Roxanne Larivière, David A Parfitt, et al.
Stem Cell Research|June 29, 2026
Establishment and characterization of two human pluripotent stem cell lines from patients with ATX-FGF14/spinocerebellar ataxia 27A (SCA27A)David Pellerin, Adriana Rebelo, Mohammad Faraz Zafeer, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 3, 2023
Intronic <i>FGF14</i> GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathyDavid Pellerin, Carlo Wilke, Andreas Traschütz, et al.
Plos Biology|March 27, 2012
Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humansVafa Bayat, Isabelle Thiffault, Manish Jaiswal, et al.
Journal of Neurology|August 14, 2023
White matter abnormalities in 15 subjects with SPG76Abdulrahman Alkhalifa, Shihan Chen, Zehra Isik Hasiloglu, et al.
Neurology. Genetics|August 30, 2023
Frequency of GAA-<i>FGF14</i> Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar AtaxiaLuiz Eduardo Novis, Rodrigo S Frezatti, David Pellerin, et al.
Nature Medicine|September 28, 2010
A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with auraRonald G Lafrenière, M Zameel Cader, Jean-François Poulin, et al.
Biorxiv : the Preprint Server for Biology|July 10, 2023
A common flanking variant is associated with enhanced meiotic stability of the <i>FGF14</i> -SCA27B locusDavid Pellerin, Giulia Del Gobbo, Madeline Couse, et al.
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