Associated Papers
Sacs R272C missense homozygous mice develop an ataxia phenotype.
Larivière R et al.
Molecular Brain, 2019
Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations.
Ménade M et al.
The Journal of Biological Chemistry, 2018
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Pilliod J et al.
Annals of Neurology, 2015
Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy.
Dibilio V et al.
Cerebellum (london, England), 2013
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.
Romano A et al.
Human Mutation, 2013
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