WDR45 mutations define a novel disease entity - Static Encephalopathy of Childhood with Neurodegeneration in Adulthood

被引：5

作者：

Aminkeng, F. ^{[1
]}

机构：

[1] Univ British Columbia, Dept Med Genet, Ctr Mol Med & Therapeut, CPNDS, Vancouver, BC V5Z 4H4, Canada

来源：

CLINICAL GENETICS | 2013年 / 84卷 / 03期

关键词：

D O I：

10.1111/cge.12183

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

De novo mutations in the autophagy gene encoding WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood Saitsu et al. (2013) Nature Genetics 45(4): 445-449

引用

页码：209 / 209

页数：1

共 2 条

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First video report of static encephalopathy of childhood with neurodegeneration in adulthood [J].

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MOVEMENT DISORDERS, 2013, 28 (03) :397-399

[2]

MRI, MR spectroscopy, and diffusion tensor imaging findings in patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) [J].

Kimura, Yukio ;

Sato, Noriko ;

Sugai, Kenji ;

Maruyama, Shinsuke ;

Ota, Miho ;

Kamiya, Kouhei ;

Ito, Kimiteru ;

Nakata, Yasuhiro ;

Sasaki, Masayuki ;

Sugimoto, Hideharu .

BRAIN & DEVELOPMENT, 2013, 35 (05) :458-461

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