Associated Papers
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
Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder.
Blumkin L et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2015
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.
Romano A et al.
Human Mutation, 2013
23280630 (PubMed )
Supplement: humu0034-0525-SD1.pdf
Select a paper to view details