Associated Papers
The Cerebellar Cognitive-Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Large International Cross-Sectional Study.
Fortin J et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2026
Using the ancestral recombination graph to study the history of rare variants in founder populations.
Mejia-Garcia A et al.
American Journal of Human Genetics, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Masquerading as Charcot-Marie-Tooth Disease: A Case Study and Literature Review of Korean Patients.
Kim Y et al.
Journal of Movement Disorders, 2025
Journey Through Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: Insights From a Case Series of Seven Patients-A Single-Center Study and Review of an Indian Cohort.
Raval MA et al.
Journal of Movement Disorders, 2024
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.
Traschütz A et al.
Annals of Neurology, 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
Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)☆.
Aly KA et al.
Current Opinion in Chemical Biology, 2022
The ARSACS disease protein sacsin controls lysosomal positioning and reformation by regulating microtubule dynamics.
Francis V et al.
The Journal of Biological Chemistry, 2022
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity.
Aida I et al.
Internal Medicine (tokyo, Japan), 2021
Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability.
Bchetnia M et al.
Journal of Medical Genetics, 2021
Genetic and Epidemiological Study of Adult Ataxia and Spastic Paraplegia in Eastern Quebec.
Haj Salem I et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 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
Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics.
Gentil BJ et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019
From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Gagnon C et al.
Orphanet Journal of Rare Diseases, 2018
DNAJ Proteins in neurodegeneration: essential and protective factors.
Zarouchlioti C et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2018
Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.
Duncan EJ et al.
Human Molecular Genetics, 2017
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil.
Burguêz D et al.
Arquivos De Neuro-psiquiatria, 2017
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Pilliod J et al.
Annals of Neurology, 2015
Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Larivière R et al.
Human Molecular Genetics, 2015
Novel SACS Mutation Deviates from the French Canadian ARSACS Phenotype.
McKenzie ED et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2014
Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay.
Duquette A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Girard M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2012