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Frontiers in Genetics|December 12, 2019
Investigation of the <i>RFC1</i> Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel ConformationsFulya Akçimen, Jay P Ross, Cynthia V Bourassa, et al.Human Molecular Genetics|September 28, 2014
Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-SaguenayRoxanne Larivière, Rébecca Gaudet, Benoit J Gentil, et al.Stem Cell Research|July 2, 2026
Establishment and characterization of three human pluripotent stem cell lines from patients with spinocerebellar ataxia 27B (SCA27B)David Pellerin, Adriana Rebelo, Mohammad Faraz Zafeer, et al.Clinical Genetics|January 15, 2024
The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populationsChrisoula Kartanou, Alexandros Mitrousias, David Pellerin, et al.The Journal of Biological Chemistry|June 28, 2018
Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutationsMarie Ménade, Guennadi Kozlov, Jean-François Trempe, et al.Journal of Neurology|January 24, 2024
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?Thomas Wirth, Céline Bonnet, Clarisse Delvallée, et al.The Lancet. Neurology|June 14, 2024
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosisElisa Vegezzi, Hiroyuki Ishiura, D Cristopher Bragg, et al.Movement Disorders Clinical Practice|November 9, 2020
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar AtrophyLaurence Gauquelin, Taila Hartley, Mark Tarnopolsky, et al.Ebiomedicine|March 20, 2024
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohortDavid Pellerin, Felix Heindl, Carlo Wilke, et al.Human Molecular Genetics|May 24, 2017
Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsinEmma J Duncan, Roxanne Larivière, Teisha Y Bradshaw, et al.Pageof 19