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Akitsugu Kawashima
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Associate Professor |
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| Article types | Original article |
| Language | English |
| Peer review | Peer reviewed |
| Title | Rare and low-frequency variants in RNF213 confer susceptibility to moyamoya syndrome associated with hyperthyroidism. |
| Journal | Formal name：World neurosurgery Abbreviation：World Neurosurg ISSN code：(1878-8769)1878-8750(Linking) |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 127,pp.e460-e466 |
| Author and coauthor | Nomura Shunsuke†, Akagawa Hiroyuki, Yamaguchi Koji, Ishikawa Tatsuya, Kawashima Akitsugu, Kasuya Hidetoshi, Mukawa Maki, Nariai Tadashi, Maehara Taketoshi, Okada Yoshikazu, Kawamata Takakazu |
| Publication date | 2019/07 |
| Summary | Rare and low-frequency missense variants in RNF213 confer susceptibility to both MMD and hMMS. This finding indicates that susceptibility variants in RNF213 may require additional clinical factors with an effect equivalent to hyperthyroidism, in order to develop moyamoya vasculopathy. |
| DOI | 10.1016/j.wneu.2019.03.172 |
| PMID | 30922903 |