Associated Papers
Generation of eight human induced pluripotent stem cells lines from patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).
Martineau L et al.
Stem Cell Research, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 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
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
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
Structural studies of parkin and sacsin: Mitochondrial dynamics in neurodegenerative diseases.
Li X et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2015
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
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.
Kamada S et al.
Journal of Neurology, 2008
Sacsinopathies: sacsin-related ataxia.
Takiyama Y
Cerebellum (london, England), 2007
Sacsin-related ataxia caused by the novel nonsense mutation Arg4325X.
Yamamoto Y et al.
Journal of Neurology, 2006
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