Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe-Reference-Cited by-同舟云学术

Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe

Published:2008-06-04 Issue:11 Volume:16 Page:1407-1411
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Verschuuren-Bemelmans Corien C,Winter Pia,Sival Deborah A,Elting Jan-Willem,Brouwer Oebele F,Müller Ulrich

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2008108.pdf

Reference17 articles.

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2. Yang Y, Hentati A, Deng HX et al: The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 2001; 29: 160–165.

3. Eymard-Pierre E, Lesca G, Dollet S et al: Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet 2002; 71: 518–527.

4. Gros-Louis F, Meijer IA, Hand CK et al: An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred. Ann Neurol 2003; 53: 144–145.

5. Pringle CE, Hudson AJ, Munoz DG et al: Primary lateral sclerosis, clinical features, neuropathology and diagnostic criteria. Brain 1992; 115: 495–520.

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