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Novel SACS Mutation Deviates from the French Canadian ARSACS Phenotype

  • E.D. McKenzie (a1), P.N. Sharma (a2), J.S. Parboosingh (a2), Forge Canada Consortium and O. Suchowersky (a1) (a3)...
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Abstract

Copyright

Corresponding author

Medical Genetics, Pediatrics, and Psychiatry, Department of Medicine, University of Alberta, 233.32 Walter Mackenzie Health Science Centre, 8440 - 112 Street, Edmonton, Alberta, T6G 2B7, Canada. Email: Oksana.Suchowersky@albertahealthservices.ca.

References

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1. Anheim, M, Tranchant, C, Koenig, M. The autosomal recessive cerebellar ataxias. N. Engl. J. Med. 2012;366(7):63646.
2. Thiffault, I, Dicaire, MJ, Tetreault, M, Huang, KN. Diversity of ARSACS Mutations in French-Canadians. Can J Neurol Sci. 2013;40:606.
3. Bouhlal, Y, Amouri, R, Euch-Fayeche, El G, Hentati, F. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview. Parkinsonism Relat Disord. 2011;17(6):41822.
4. Miyatake, S, Miyake, N, Doi, H, et al. A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Intern Med. 2012;51:22216.
5. Choi, M, Scholl, UI, Ji, W, et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci USA. 2009;106(45):19096101.

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