カワシマ　アキツグ   Kawashima Akitsugu   川島　明次    所属   医学部 医学科（東京女子医科大学病院）    職種   准教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Rare and low-frequency variants in RNF213 confer susceptibility to moyamoya syndrome associated with hyperthyroidism.
掲載誌名	正式名：World neurosurgery 略　 称：World Neurosurg ISSNコード：(1878-8769)1878-8750(Linking)
掲載区分	国外
巻・号・頁	127,pp.e460-e466
著者・共著者	Nomura Shunsuke†, Akagawa Hiroyuki, Yamaguchi Koji, Ishikawa Tatsuya, Kawashima Akitsugu, Kasuya Hidetoshi, Mukawa Maki, Nariai Tadashi, Maehara Taketoshi, Okada Yoshikazu, Kawamata Takakazu
発行年月	2019/07
概要	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