Associated Papers
ARSACS: Clinical Features, Pathophysiology and iPS-Derived Models.
Salem IH et al.
Cerebellum (london, England), 2025
Sacsin levels in PBMCs: A diagnostic assay for SACS variants in peripheral blood cells - A PROSPAX study.
Tunca C et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix-Saguenay.
De Ritis D et al.
Brain Communications, 2024
A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration.
Ekenstedt KJ et al.
Human Genetics, 2023
Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model.
Del Bondio A et al.
Jci Insight, 2023
In Vitro Characterization of Motor Neurons and Purkinje Cells Differentiated from Induced Pluripotent Stem Cells Generated from Patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Louit A et al.
Stem Cells International, 2023
Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia.
Santos M et al.
Cells, 2022
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
Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis.
Longo F et al.
Neurology, 2021
A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases.
Xiromerisiou G et al.
Journal of Molecular Neuroscience : Mn, 2020
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
Diversity of ARSACS mutations in French-Canadians.
Thiffault I et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2013
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
Bouhlal Y et al.
Parkinsonism & Related Disorders, 2011
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