Associated Papers
Diagnostic Yield and Genetic Burden Analysis of Frequently Mutated Genes in Progressive Ataxia.
Sharma P et al.
Annals of Indian Academy of Neurology, 2025
Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS.
Nethisinghe S et al.
International Journal of Molecular Sciences, 2021
Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Parkinson MH et al.
Brain : a Journal of Neurology, 2018
Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.
Duncan EJ et al.
Human Molecular Genetics, 2017
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