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Title
Diversity of ARSACS Mutations in French-Canadians
Authors
Keywords
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Journal
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
Volume 40, Issue 01, Pages 61-66
Publisher
Cambridge University Press (CUP)
Online
2014-12-12
DOI
10.1017/s0317167100012968
References
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Related references
Note: Only part of the references are listed.- 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
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