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
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
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
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
Bouhlal Y et al.
Parkinsonism & Related Disorders, 2011
A novel SACS gene mutation in a Tunisian family.
Bouhlal Y et al.
Journal of Molecular Neuroscience : Mn, 2009
Distinct phenotypes within autosomal recessive ataxias not linked to already known loci.
Bouhlal Y et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2005
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