Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5-Reference-Cited by-同舟云学术

Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5

Published:2011-04-12 Issue:3 Volume:12 Page:259-261
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Matsukawa Takashi,Wang Xuemin,Liu Rui,Wortham Noel C.,Onuki Yuko,Kubota Akatsuki,Hida Ayumi,Kowa Hisatomo,Fukuda Yoko,Ishiura Hiroyuki,Mitsui Jun,Takahashi Yuji,Aoki Shigeki,Takizawa Shunya,Shimizu Jun,Goto Jun,Proud Christopher G.,Tsuji Shoji

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-011-0284-7.pdf

Reference2 articles.

1. Labauge P, Horzinski L, Ayrignac X, Blanc P, Vukusic S, Rodriguez D, Mauguiere F, Peter L, Goizet C, Bouhour F, Denier C, Confavreux C, Obadia M, Blanc F, de Sèze J, Fogli A, Boespflug-Tanguy O (2009) Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases. Brain 132:2161–2169

2. Li W, Wang X, van der Knaap MS, Proud CG (2004) Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways. Mol Cell Biol 24:3295–3306

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