Diversity of ARSACS Mutations in French-Canadians

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

(2012) M. Girard et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

(2012) Vafa Bayat et al.   PLOS BIOLOGY

Thickening of Peripapillar Retinal Fibers for the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

(2011) Jeremy Desserre et al.   CEREBELLUM

Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

(2011) Guennadi Kozlov et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Neurodegenerative-Disease-Related Protein Sacsin Is a Molecular Chaperone

(2011) John F. Anderson et al.   JOURNAL OF MOLECULAR BIOLOGY

Mitochondria: The Next (Neurode)Generation

(2011) Eric A. Schon et al.   NEURON

The Sacsin Repeating Region (SRR): A Novel Hsp90-Related Supra-Domain Associated with Neurodegeneration

(2010) John F. Anderson et al.   JOURNAL OF MOLECULAR BIOLOGY

Mutations in SACS cause atypical and late-onset forms of ARSACS

(2010) J. Baets et al.   NEUROLOGY

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1

(2009) David A. Parfitt et al.   HUMAN MOLECULAR GENETICS

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

(2009) Sascha Vermeer et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Novel mutations in the sacsin gene in ataxia patients from Maritime Canada

(2009) D.L. Guernsey et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patient

(2009) Hugh J. McMillan et al.   MUSCLE & NERVE

A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay

(2008) Jeroen Breckpot et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss

(2008) Alessandra Terracciano et al.   NEUROGENETICS

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

(2008) Sascha Vermeer et al.   NEUROGENETICS