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Journal of the Neurological Sciences|August 1, 2020
Documenting the psychometric properties of the scale for the assessment and rating of ataxia to advance trial readiness of Autosomal Recessive Spastic Ataxia of Charlevoix-SaguenayDax Bourcier, Mathieu Bélanger, Isabelle Côté, et al.
American Journal of Human Genetics|November 1, 2011
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophyMartine Tétreault, Karine Choquet, Simona Orcesi, et al.
Muscle & Nerve|March 12, 2014
Mutations in riboflavin transporter present with severe sensory loss and deafness in childhoodMyriam Srour, Maria Lisa Putorti, Jeremy Schwartzentruber, et al.
Human Molecular Genetics|April 10, 2008
Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1Hélène Catoire, Matthieu Y Pasco, Aida Abu-Baker, et al.
Cerebellum (London, England)|May 31, 2025
Selection of Clinical Outcome Assessments for Trial Readiness in ARSACS - 2-year Progression and Responsiveness to Change Part 1: Disease Severity, Swallowing, Upper Limb Function, and ParticipationIsabelle Lessard, Luc J Hébert, Bernard Brais, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|October 18, 2018
Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamicsBenoit J Gentil, Gia-Thanh Lai, Marie Menade, et al.
Cerebellum (London, England)|October 8, 2022
French Translation and Cross-cultural Adaptation of the Scale for the Assessment and Rating of AtaxiaDax Bourcier, Nicolas Bélair, Élyse-Anne Pedneault-Tremblay, et al.
Neuromuscular Disorders : NMD|July 9, 2010
DOK7 mutations presenting as a proximal myopathy in French CanadiansMyriam Srour, Véronique Bolduc, Velina Guergueltcheva, et al.
Brain Communications|January 13, 2025
The <i>FGF14</i> GAA repeat expansion is a major cause of ataxia in the Cypriot populationIoannis Livanos, Christina Votsi, Kyriaki Michailidou, et al.
Journal of Neurology|October 9, 2025
Clinical characteristics, cerebellar MR spectroscopy and response to 3,4-diaminopyridine in spinocerebellar ataxia 27B: the Sheffield Ataxia Centre experienceIkechukwu Chukwuocha, David Pellerin, Priya Shanmugarajah, et al.
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