Associated Papers
Genetic analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Liu H et al.
Bmc Medical Genomics, 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 novel hemizygous SACS mutation identified by whole exome sequencing and SNP array analysis in a Chinese ARSACS patient.
Liu L et al.
Journal of the Neurological Sciences, 2016
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.
Romano A et al.
Human Mutation, 2013
An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss.
Terracciano A et al.
Neurogenetics, 2009
Select a paper to view details