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American Journal of Human Genetics|June 15, 2005
A "Fille du Roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French CanadiansAnne-Marie Laberge, Michele Jomphe, Louis Houde, et al.Cerebellum (London, England)|May 8, 2023
A Review of Brain and Pituitary Gland MRI Findings in Patients with Ataxia and HypogonadismAlessandra Scaravilli, Mario Tranfa, Giuseppe Pontillo, et al.Journal of Neurology|February 21, 2024
RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profileDavid Pellerin, Felix Heindl, Andreas Traschütz, et al.Journal of Neurology|May 24, 2026
Frequency and phenotype of GAA-FGF14 disease in bilateral vestibulopathy syndromes: insights from repeat expansion carriers, including a case of co-occurrence with RFC1-related CANVASDavid Pellerin, Felix Heindl, Andreas Traschütz, et al.Cerebellum (London, England)|May 7, 2025
Selection of Clinical Outcome Assessments for Trial Readiness in ARSACS - 2-year Progression and Responsiveness to Change Part 2: Mobility, Balance, and Lower Limb CoordinationIsabelle Lessard, Elise Duchesne, Luc J Hébert, et al.The Journal of Physiology|June 22, 2018
Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACSVisou Ady, Brenda Toscano-Márquez, Moushumi Nath, et al.Muscle & Nerve|July 13, 2026
Muscle Strength, Balance, and Indoor Mobility in Oculopharyngeal Muscular Dystrophy: An Exploratory Canadian Multicenter StudyNicolas Bélair, Jean-Denis Brisson, Bernard Brais, et al.The Journal of Biological Chemistry|March 23, 2019
Leukodystrophy-associated <i>POLR3A</i> mutations down-regulate the RNA polymerase III transcript and important regulatory RNA <i>BC200</i>Karine Choquet, Diane Forget, Elisabeth Meloche, et al.Movement Disorders : Official Journal of the Movement Disorder Society|February 11, 2026
The Cerebellar Cognitive-Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Large International Cross-Sectional StudyJulie Fortin, Matthis Synofzik, Élyse-Anne Pedneault-Tremblay, et al.Neuromuscular Disorders : NMD|May 31, 2008
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians clusterIsabelle Gosselin, Isabelle Thiffault, Martine Tétreault, et al.Pageof 19