Concepedia

A novel hemizygous SACS mutation identified by whole exome sequencing and SNP array analysis in a Chinese ARSACS patient

L. Liu, X.B. Li, Xiaohong Zi, Li Shen, ZH.M. Hu, SH.X. Huang, Danlei Yu, Huijun Li, Kun Xia, Bei Tang,

Journal of the Neurological Sciences · 2016 · 59 citations · 23 references

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23

SOAP2: an improved ultrafast tool for short read alignment

Ruiqiang Li, Chang Yu, Yingrui Li et al. · Bioinformatics · 2009 · 3.9K citations

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ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

James C. Engert, Pierre Bérubé, Jocelyne Mercier et al. · Nature Genetics · 2000 · 436 citations

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

David A. Parfitt, Gregory J. Michael, Esmeralda G. M. Vermeulen et al. · Human Molecular Genetics · 2009 · 193 citations · Full text

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

Sascha Vermeer, Rowdy Meijer, Benjamin J. Pijl et al. · Neurogenetics · 2008 · 148 citations · Full text

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Phenotypic Features and Genetic Findings in Sacsin-Related Autosomal Recessive Ataxia in Tunisia

Ghada El Euch-Fayache, Irfan Lalani, Rim Amouri et al. · Archives of Neurology · 2003 · 107 citations

, , +15