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
Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations.
Ménade M et al.
The Journal of Biological Chemistry, 2018
Structural studies of parkin and sacsin: Mitochondrial dynamics in neurodegenerative diseases.
Li X et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2015
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.
Romano A et al.
Human Mutation, 2013
Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.
Fogel BL et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2012
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
Bouhlal Y et al.
Parkinsonism & Related Disorders, 2011
Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Kozlov G et al.
The Journal of Biological Chemistry, 2011
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.
Kamada S et al.
Journal of Neurology, 2008
Distinct phenotypes within autosomal recessive ataxias not linked to already known loci.
Bouhlal Y et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2005
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