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YAMAMOTO Toshiyuki
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Professor |
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| Article types | Original article |
| Language | English |
| Peer review | Peer reviewed |
| Title | Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease. |
| Journal | Formal name：Brain & development Abbreviation：Brain Dev ISSN code：(1872-7131)0387-7604(Linking) |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 37(10),pp.960-6 |
| Author and coauthor | Shimada S, Shimojima K, Sangu N, Hoshino A, Hachiya Y, Ohto T, Hashi Y, Nishida K, Mitani M, Kinjo S, Tsurusaki Y, Matsumoto N, Morimoto M, Yamamoto T |
| Publication date | 2015/11 |
| Summary | All patients showed white matter abnormalities with various degrees. One patient showed manifestations of end-stage VWM disease. Some patients showed late onset and slow progression associated with brain magnetic resonance imaging displaying T2 high intensity only in the deep white matter. There was clinical heterogeneity among patients with VWM. |
| DOI | 10.1016/j.braindev.2015.03.003 |
| PMID | 25843247 |