Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay
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Title
Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay
Authors
Keywords
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Journal
HUMAN MOLECULAR GENETICS
Volume 24, Issue 3, Pages 727-739
Publisher
Oxford University Press (OUP)
Online
2014-09-27
DOI
10.1093/hmg/ddu491
References
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Note: Only part of the references are listed.- Diversity of ARSACS Mutations in French-Canadians
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- Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
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- The Neurodegenerative-Disease-Related Protein Sacsin Is a Molecular Chaperone
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- (2011) Mala V. Rao et al. PLoS One
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- (2009) Parminder J. S. Vig et al. CEREBELLUM
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