Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation-Reference-Cited by-同舟云学术

Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation

Published:2005-03-08 Issue:8 Volume:252 Page:897-900
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Coppola Giovanni,Criscuolo Chiara,Michele Giuseppe,Striano Salvatore,Barbieri Fabrizio,Striano Pasquale,Perretti Anna,Santoro Lucio,Brescia Morra Vincenzo,Saccà Francesco,Scarano Valentina,D’Adamo Adamo P.,Banfi Sandro,Gasparini Paolo,Santorelli Filippo M.,Lehesjoki Anna E.,Filla Alessandro

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-005-0766-3.pdf

Reference9 articles.

1. Berkovic S, Andermann F, Carpenter S, Wolfe LS (1986) Progressive myoclonus epilepsies: specific causes and diagnosis. N Engl J Med 315:296–305

2. Chan EM, Young EJ, Ianzano L, et al. (2003) Mutations in NHLRC1 cause progressive myoclonus epilepsy. Nat Genet 35:125–127

3. DiMauro S, Schon EA (2001) Mitochondrial DNA mutations in human disease. Am J Med Genet 106:18–26

4. Lalioti MD, Scott HS, Buresi C, et al. (1997) Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature 386:847–851

5. Lehesjoki AE, Koskiniemi M, Sistonen P, et al. (1991) Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. Proc Natl Acad Sci USA 88:3696–3699

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