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The Cellular Phenotype of the Neurodegenerative Disease Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
(Queen Mary University of London, 2014-09)
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS) is an early onset neurodegenerative disorder resulting from mutations in the SACS gene that encodes the protein sacsin. Sacsin is a 520kDa multi-domain ...
