Associated Papers
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
A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay.
Bradshaw TY et al.
Human Molecular Genetics, 2016
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
Bouhlal Y et al.
Parkinsonism & Related Disorders, 2011
Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene.
Vermeer S et al.
The Journal of Molecular Diagnostics : Jmd, 2009
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.
Vermeer S et al.
Neurogenetics, 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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