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
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
Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia.
Shakya S et al.
Clinical Genetics, 2019
Sacsin-related ataxia caused by the novel nonsense mutation Arg4325X.
Yamamoto Y et al.
Journal of Neurology, 2006
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