Associated Papers
Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
Sacs R272C missense homozygous mice develop an ataxia phenotype.
Larivière R et al.
Molecular Brain, 2019
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.
Vill K et al.
Human Genetics, 2018
Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family.
Palmio J et al.
Clinical Case Reports, 2016
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.
Romano A et al.
Human Mutation, 2013
The sacsin repeating region (SRR): a novel Hsp90-related supra-domain associated with neurodegeneration.
Anderson JF et al.
Journal of Molecular Biology, 2010
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.
Kamada S et al.
Journal of Neurology, 2008
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