Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis-Reference-Cited by-同舟云学术

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

Published:2009-02-05 Issue:3 Volume:132 Page:810-819
ISSN:1460-2156
Container-title:Brain
language:en
Short-container-title:

Author:

Kousi Maria,Siintola Eija,Dvorakova Lenka,Vlaskova Hana,Turnbull Julie,Topcu Meral,Yuksel Deniz,Gokben Sarenur,Minassian Berge A.,Elleder Milan,Mole Sara E.,Lehesjoki Anna-Elina

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/132/3/810/13794769/awn366.pdf

Reference33 articles.

1. Novel mutations in CLN8 in italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the mediterranean;Cannelli;Neurogenetics,2006

2. Listening to silence and understanding nonsense: Exonic mutations that affect splicing;Cartegni;Nat Rev Genet,2002

3. Neuronal ceroid lipofuscinosis in the Czech Republic: analysis of 57 cases. Report of the ‘Prague NCL group’;Elleder;Eur J Pediatr Neurol,1997

4. Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10);Fritchie;Acta Neuropathol,2009

5. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse;Gao;Am J Hum Genet,2002

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