Associated Papers
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
39198013 (PubMed )
Supplement: jmd-24154-Supplementary-Table-2.pdf
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
[Spastic ataxia of Charlevoix-Saguenay: the first Russian case report and literature review].
Rudenskaya GE et al.
Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 2020
Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia.
Shakya S et al.
Clinical Genetics, 2019
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
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
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