Art

J-GLOBAL ID：201802268514292013   Reference number：18A0315017

新しい神経疾患遺伝子 大脳白質形成不全症の新規遺伝子TUBB4A

Author (2)： HAMANAKA KOHEI (横浜市大 大学院医学研究科 遺伝学) ,  MIYATAKE SATOKO (横浜市大 大学院医学研究科 遺伝学)
Material： 月刊神経内科  (神経内科)
Volume： 88  Issue： 2  Page： 211-215  Publication year： Feb. 25, 2018 
JST Material Number： Z0017B  ISSN： 0386-9709  Document type： Article
Article type： 文献レビュー  Country of issue： Japan (JPN)  Language： JAPANESE (JA)

Thesaurus term： human ,...
Semi thesaurus term： *TUBB4A ,...

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JST classification (2)： Nervous system diseases  (GN03000O) ,  Molecular genetics in general  (EC02010J)

Reference (20)：

• Hamilton EM, Polder E, Vanderver A, et al. Hypomyelination with atrophy of the basal ganglia and cerebellum : further delineation of the phenotype and genotype-phenotype correlation. Brain 2014 ; 137: 1921-30.
• Simons C, Wolf NI, McNeil N, et al. A de novo mutation in the beta-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. Am J Hum Genet 2013 ; 92 : 767-73.
• Carvalho D, Santos S, Martins B, et al. TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum. Brain 2015 ; 138 : e327.
• Shimojima K, Okumura A, Ikeno M, et al. A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease. Brain Dev 2015 ; 37 : 281-5.
• Miyatake S, Osaka H, Shiina M, et al. Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies. Neurology 2014 ; 82 : 2230-7.

Terms in the title (5)： 神経 ,  疾患遺伝子 ,  大脳白質 ,  形成不全症 ,  遺伝子