Art

J-GLOBAL ID：201202238700369602   Reference number：12A1593001

Homozygous c. 14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease

RNF213のホモ接合型c.14576G>A変異体は早期発症型および重篤型のモヤモヤ病を予測する

Author (25)： MIYATAKE S. (Yokohama City Univ. Graduate School of Medicine, Yokohama) ,  MIYAKE N. (Yokohama City Univ. Graduate School of Medicine, Yokohama) ,  TOUHO H. (Touho Neurosurgical Clinic, Osaka) ,  NISHIMURA-TADAKI A. (Yokohama City Univ. Graduate School of Medicine, Yokohama) ,  KONDO Y. (Yokohama City Univ. Graduate School of Medicine, Yokohama) ,  OKADA I. (Yokohama City Univ. Graduate School of Medicine, Yokohama) ,  TSURUSAKI Y. (Yokohama City Univ. Graduate School of Medicine, Yokohama) ,  DOI H. (Yokohama City Univ. Graduate School of Medicine, Yokohama) ,  SAKAI H. (Yokohama City Univ. Graduate School of Medicine, Yokohama) ,  SAITSU H. (Yokohama City Univ. Graduate School of Medicine, Yokohama) ,  SHIMOJIMA K. (Tokyo Women’s Medical Univ. Inst. for Integrated Medical Sci., Tokyo) ,  YAMAMOTO T. (Tokyo Women’s Medical Univ. Inst. for Integrated Medical Sci., Tokyo) ,  HIGURASHI M. (Yokohama City Univ. Graduate School of Medicine, Yokohama) ,  KAWAHAR N. (Yokohama City Univ. Graduate School of Medicine, Yokohama) ,  KAWAUCHI H. (Osaka Medical Center and Res. Inst. for Maternal and Child Health, Osaka) ,  NAGASAKA K. (Osaka Medical Center and Res. Inst. for Maternal and Child Health, Osaka) ,  OKAMOTO N. (Osaka Medical Center and Res. Inst. for Maternal and Child Health, Osaka) ,  MORI T. (Ichikawa City Rehabilitation Hospital, Ichikawa) ,  KOYANO S. (Yokohama City Univ. Graduate School of Medicine, Yokohama) ,  KUROIWA Y. (Yokohama City Univ. Graduate School of Medicine, Yokohama) ,  TAGURI M. (Yokohama City Univ. Medical Center, Yokohama) ,  MORITA S. (Yokohama City Univ. Medical Center, Yokohama) ,  MATSUBARA Y. (Tohoku Univ. School of Medicine, Sendai, JPN) ,  KURE S. (Tohoku Univ. School of Medicine, Sendai, JPN) ,  MATSUMOTO N. (Yokohama City Univ. Graduate School of Medicine, Yokohama)
Material： Neurology
Volume： 78  Issue： 11  Page： 803-810  Publication year： Mar. 13, 2012 
JST Material Number： B0604B  ISSN： 0028-3878  Document type： Article
Country of issue： United States (USA)  Language： ENGLISH (EN)

Terms in the title (6)： ホモ ,  変異体 ,  早期 ,  発症 ,  モヤモヤ病 ,  予測