Associated Papers
Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report.
Raggio V et al.
Journal of Medical Case Reports, 2025
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
A mutation can hide another one: Think Structural Variants!
Miressi F et al.
Computational and Structural Biotechnology Journal, 2020
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