Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations-Reference-Cited by-同舟云学术

Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations

Published:2004-10-13 Issue:2 Volume:13 Page:208-215
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Alakurtti Kirsi,Weber Ekkehard,Rinne Riitta,Theil Gerit,Haan Gerrit-Jan de,Lindhout Dick,Salmikangas Paula,Saukko Pekka,Lahtinen Ulla,Lehesjoki Anna-Elina

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201300.pdf

Reference34 articles.

1. Koskiniemi M, Donner M, Majuri H, Haltia M, Norio R : Progressive myoclonus epilepsy. A clinical and histopathological study. Acta Neurol Scand 1974; 50: 307–332.

2. Norio R, Koskiniemi M : Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients. Clin Genet 1979; 15: 382–398.

3. Pennacchio LA, Lehesjoki A-E, Stone NE et al: Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 1996; 271: 1731–1734.

4. Lafreniere RG, Rochefort DL, Chretien N et al: Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Nat Genet 1997; 15: 298–302.

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

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