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ISHIKAWA Tatsuya
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Assistant Professor |
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| Article types | Original article |
| Language | English |
| Peer review | Peer reviewed |
| Title | Genotype-Phenotype Correlation in Long-Term Cohort of Japanese Patients with Moyamoya Disease. |
| Journal | Formal name：Cerebrovascular diseases (Basel, Switzerland) Abbreviation：Cerebrovasc Dis ISSN code：(1421-9786)1015-9770(Linking) |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 47(3-4),pp.105-111 |
| Author and coauthor | Nomura Shunsuke†, Yamaguchi Koji, Akagawa Hiroyuki, Kawashima Akitsugu, Moteki Yosuke, Ishikawa Tatsuya, Aihara Yasuo, Saito Taiichi, Okada Yoshikazu, Kawamata Takakazu |
| Publication date | 2019/04 |
| Summary | The p.R4810K founder variant of RNF213 affects the phenotype at disease onset. However, the optimal revascularization may be effective, regardless of the genotype, even for the homozygous variant, which has been thought to be the most pathogenic. This genotype may not strongly influence the long-term clinical manifestations or poor prognosis in MMD. |
| DOI | 10.1159/000499699 |
| PMID | 30947170 |