Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis-Reference-Cited by-同舟云学术

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Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis

Published:2010-12-16 Issue:3 Volume:56 Page:247-249
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Belzil Véronique V,St-Onge Judith,Daoud Hussein,Desjarlais Anne,Bouchard Jean-Pierre,Dupré Nicolas,Camu William,Dion Patrick A,Rouleau Guy A

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg2010162.pdf

Reference15 articles.

1. Shaw, C. E., Enayat, Z. E., Powell, J. F., Anderson, V. E., Radunovic, A., Al-Sarraj, S. et al. Familial amyotrophic lateral sclerosis. Molecular pathology of a patient with a SOD1 mutation. Neurology 49, 1612–1616 (1997).

2. Camu, W., Khoris, J., Moulard, B., Salachas, F., Briolotti, V., Rouleau, G. A. et al. Genetics of familial ALS and consequences for diagnosis. French ALS Research Group. J. Neurol. Sci. 165 (Suppl 1), S21–S26 (1999).

3. Kurtzke, J. F. Epidemiology of amyotrophic lateral sclerosis. Adv. Neurol. 36, 281–302 (1982).

4. Rosen, D. R., Siddique, T., Patterson, D., Figlewicz, D. A., Sapp, P., Hentati, A. et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362, 59–62 (1993).

5. Sreedharan, J., Blair, I. P., Tripathi, V. B., Hu, X., Vance, C., Rogelj, B. et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 319, 1668–1672 (2008).

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