Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

James C. Engert, Pierre Bérubé, Jocelyne Mercier et al. · Nature Genetics · 2000 · 436 citations

Life Sciences, Genetics, Molecular Genetics +12

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

J.P. Bouchard, A. Barbeau, Rémi W. Bouchard et al. · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · 1978 · 288 citations · Full text

Medicine, Neurology, Neuroscience +16

Case History 3

D. J. NUTT, J. A. Den Boer · Human Psychopharmacology Clinical and Experimental · 1997 · 248 citations

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1

David A. Parfitt, Gregory J. Michael, Esmeralda G. M. Vermeulen et al. · Human Molecular Genetics · 2009 · 193 citations · Full text

Life Sciences, Molecular Biology, Neuroscience +17

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

Martine Girard, Roxanne Larivière, David A. Parfitt et al. · Proceedings of the National Academy of Sciences · 2012 · 192 citations

Life Sciences, Genetics, Neurology +17