Ophthalmologic involvement in Japanese siblings with chorea-acanthocytosis caused by a novel chorein mutation-Reference-Cited by-同舟云学术

Ophthalmologic involvement in Japanese siblings with chorea-acanthocytosis caused by a novel chorein mutation

Published:2013-10 Issue:10 Volume:19 Page:913-915
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Ogawa Ikuko,Saigoh Kazumasa,Hirano Makito,Mtsui Yoshiyuki,Sugioka Koji,Takahashi Junko,Shimomura Yoshikazu,Tani Yoshihiko,Nakamura Yusaku,Kusunoki Susumu

Funder

Ministry of Education, Culture, Sports, Science and Technology of Japan

Publisher

Elsevier BV

Subject

Clinical Neurology,Geriatrics and Gerontology,Neurology

Reference5 articles.

1. A conserved sorting-associated protein is mutant in chorea-acanthocytosis;Rampoldi;Nat Genet,2001

2. The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis;Ueno;Nat Genet,2001

3. An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements;Disset;Hum Mol Genet,2006

4. Naturally- and experimentally-designed restorations of the Parkin gene deficit in autosomal recessive juvenile parkinsonism;Asai;Biochem Biophys Res Commun,2010

5. A novel frameshift mutation in the McLeod syndrome gene in a Japanese family;Hanaoka;J Neurol Sci,1999

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