Associated Papers
Sacs R272C missense homozygous mice develop an ataxia phenotype.
Larivière R et al.
Molecular Brain, 2019
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Pilliod J et al.
Annals of Neurology, 2015
Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Sánchez MG et al.
Journal of the Neurological Sciences, 2015
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.
Romano A et al.
Human Mutation, 2013
Select a paper to view details