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SaveComprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis
Hongo, Hiroki; Miyawaki, Satoru; Imai, Hideaki; Shimizu, Masahiro; Yagi, Shinichi; Mitsui, Jun; Ishiura, Hiroyuki; Yoshimura, Jun; Doi, Koichiro; Qu, Wei; Teranishi, Yu; Okano, Atsushi; Ono, Hideaki; Nakatomi, Hirofumi; Shimizu, Tsuneo; Morishita, Shinichi; Tsuji, Shoji; Saito, Nobuhito Share Save Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping diseaseIshiura, Hiroyuki; Shibata, Shota; Yoshimura, Jun; Suzuki, Yuta; Qu, Wei; Doi, Koichiro; Almansour, M. Asem; Kikuchi, Junko Kanda; Taira, Makiko; Mitsui, Jun; Takahashi, Yuji; Ichikawa, Yaeko; Mano, Tatsuo; Iwata, Atsushi; Harigaya, Yasuo; Matsukawa, Miho Kawabe; Matsukawa, Takashi; Tanaka, Masaki; Shirota, Yuichiro; Ohtomo, Ryo; Kowa, Hisatomo; Date, Hidetoshi; Mitsue, Aki; Hatsuta, Hiroyuki; Morimoto, Satoru; Murayama, Shigeo; Shiio, Yasushi; Saito, Yuko; Mitsutake, Akihiko; Kawai, Mizuho; Sasaki, Takuya; Sugiyama, Yusuke; Hamada, Masashi; Ohtomo, Gaku; Terao, Yasuo; Nakazato, Yoshihiko; Takeda, Akitoshi; Sakiyama, Yoshio; Umeda-Kameyama, Yumi; Shinmi, Jun; Ogata, Katsuhisa; Kohno, Yutaka; Lim, Shen-Yang; Tan, Ai Huey; Shimizu, Jun; Goto, Jun; Nishino, Ichizo; Toda, Tatsushi; Morishita, Shinichi; Tsuji, Shoji Share Save Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletionIchinose, Yuta; Ishiura, Hiroyuki; Tanaka, Masaki; Yoshimura, Jun; Doi, Koichiro; Umeda, Takako; Yamauchi, Hajime; Tsuchiya, Mai; Koh, Kishin; Yamashiro, Nobuo; Mitsui, Jun; Goto, Jun; Onishi, Hiroshi; Ohtsuka, Toshihisa; Shindo, Kazumasa; Morishita, Shinichi; Tsuji, Shoji; Takiyama, Yoshihisa Share Save Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALSNaruse, Hiroya; Ishiura, Hiroyuki; Mitsui, Jun; Takahashi, Yuji; Matsukawa, Takashi; Tanaka, Masaki; Doi, Koichiro; Yoshimura, Jun; Morishita, Shinichi; Goto, Jun; Toda, Tatsushi; Tsuji, Shoji Share Save Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathyHiguchi, Yujiro; Okunushi, Ryuta; Hara, Taichi; Hashiguchi, Akihiro; Yuan, Junhui; Yoshimura, Akiko; Murayama, Kei; Ohtake, Akira; Ando, Masahiro; Hiramatsu, Yu; Ishihara, Satoshi; Tanabe, Hajime; Okamoto, Yuji; Matsuura, Eiji; Ueda, Takehiro; Toda, Tatsushi; Yamashita, Sumimasa; Yamada, Kenichiro; Koide, Takashi; Yaguchi, Hiroaki; Mitsui, Jun; Ishiura, Hiroyuki; Yoshimura, Jun; Doi, Koichiro; Morishita, Shinichi; Sato, Ken; Nakagawa, Masanori; Yamaguchi, Masamitsu; Tsuji, Shoji; Takashima, Hiroshi Share Save Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosisTohnai, Genki; Nakamura, Ryoichi; Sone, Jun; Nakatochi, Masahiro; Yokoi, Daichi; Katsuno, Masahisa; Watanabe, Hazuki; Watanabe, Hirohisa; Ito, Mizuki; Li, Yuanzhe; Izumi, Yuishin; Morita, Mitsuya; Taniguchi, Akira; Kano, Osamu; Oda, Masaya; Kuwabara, Satoshi; Abe, Koji; Aiba, Ikuko; Okamoto, Koichi; Mizoguchi, Kouichi; Hasegawa, Kazuko; Aoki, Masashi; Hattori, Nobutaka; Onodera, Osamu; Naruse, Hiroya; Mitsui, Jun; Takahashi, Yuji; Goto, Jun; Ishiura, Hiroyuki; Morishita, Shinichi; Yoshimura, Jun; Doi, Koichiro; Tsuji, Shoji; Nakashima, Kenji; Kaji, Ryuji; Atsuta, Naoki; Sobue, Gen Share Save Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutationNaruse, Hiroya; Ishiura, Hiroyuki; Mitsui, Jun; Date, Hidetoshi; Takahashi, Yuji; Matsukawa, Takashi; Tanaka, Masaki; Ishii, Akiko; Tamaoka, Akira; Hokkoku, Keiichi; Sonoo, Masahiro; Segawa, Mari; Ugawa, Yoshikazu; Doi, Koichiro; Yoshimura, Jun; Morishita, Shinichi; Goto, Jun; Tsuji, Shoji Share Save Centromere evolution and CpG methylation during vertebrate speciationIchikawa, Kazuki; Tomioka, Shingo; Suzuki, Yuta; Nakamura, Ryohei; Doi, Koichiro; Yoshimura, Jun; Kumagai, Masahiko; Inoue, Yusuke; Uchida, Yui; Irie, Naoki; Takeda, Hiroyuki; Morishita, Shinich Share Save Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotypeYamashita, Toru; Mitsui, Jun; Shimozawa, Nobuyuki; Takashima, Shigeo; Umemura, Hiroshi; Sato, Kota; Takemoto, Mami; Hishikawa, Nozomi; Ohta, Yasuyuki; Matsukawa, Takashi; Ishiura, Hiroyuki; Yoshimura, Jun; Doi, Koichiro; Morishita, Shinichi; Tsuji, Shoji; Abe, Koji Share Save Slowly progressive D-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencingMatsukawa, Takashi; Koshi, Kagari Mano; Mitsui, Jun; Bannai, Taro; Kawabe, Miho; Ishiura, Hiroyuki; Terao, Yasuo; Shimizu, Jun; Murayama, Keiko; Yoshimura, Jun; Doi, Koichiro; Morishita, Shinichi; Tsuji, Shoji; Goto, Jun Share Save Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults (vol 48, pg 569, 2016)Yasuda, Takahiko; Tsuzuki, Shinobu; Kawazu, Masahito; Hayakawa, Fumihiko; Kojima, Shinya; Ueno, Toshihide; Imoto, Naoto; Kohsaka, Shinji; Kunita, Akiko; Doi, Koichiro; Sakura, Toru; Yujiri, Toshiaki; Kondo, Eisei; Fujimaki, Katsumichi; Ueda, Yasunori; Aoyama, Yasutaka; Ohtake, Shigeki; Takita, Junko; Sai, Eirin; Taniwaki, Masafumi; Kurokawa, Mineo; Morishita, Shinichi; Fukayama, Masashi; Kiyoi, Hitoshi; Miyazaki, Yasushi; Naoe, Tomoki; Mano, Hiroyuki Share Save Modeling neurological diseases with induced pluripotent cells reprogrammed from immortalized lymphoblastoid cell linesFujimori, Koki; Tezuka, Toshiki; Ishiura, Hiroyuki; Mitsui, Jun; Doi, Koichiro; Yoshimura, Jun; Tada, Hirobumi; Matsumoto, Takuya; Isoda, Miho; Hashimoto, Ryota; Hattori, Nubutaka; Takahashi, Takuya; Morishita, Shinichi; Tsuji, Shoji; Akamatsu, Wado; Okano, Hideyuki Share Save Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adultsYasuda, Takahiko; Tsuzuki, Shinobu; Kawazu, Masahito; Hayakawa, Fumihiko; Kojima, Shinya; Ueno, Toshihide; Imoto, Naoto; Kohsaka, Shinji; Kunita, Akiko; Doi, Koichiro; Sakura, Toru; Yujiri, Toshiaki; Kondo, Eisei; Fujimaki, Katsumichi; Ueda, Yasunori; Aoyama, Yasutaka; Ohtake, Shigeki; Takita, Junko; Sai, Eirin; Taniwaki, Masafumi; Kurokawa, Mineo; Morishita, Shinichi; Fukayama, Masashi; Kiyoi, Hitoshi; Miyazaki, Yasushi; Naoe, Tomoki; Mano, Hiroyuki Share Save Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2Higuchi, Yujiro; Hashiguchi, Akihiro; Yuan, Junhui; Yoshimura, Akiko; Mitsui, Jun; Ishiura, Hiroyuki; Tanaka, Masaki; Ishihara, Satoshi; Tanabe, Hajime; Nozuma, Satoshi; Okamoto, Yuji; Matsuura, Eiji; Ohkubo, Ryuichi; Inamizu, Saeko; Shiraishi, Wataru; Yamasaki, Ryo; Ohyagi, Yasumasa; Kira, Jun-ichi; Oya, Yasushi; Yabe, Hayato; Nishikawa, Noriko; Tobisawa, Shinsuke; Matsuda, Nozomu; Masuda, Masayuki; Kugimoto, Chiharu; Fukushima, Kazuhiro; Yano, Satoshi; Yoshimura, Jun; Doi, Koichiro; Nakagawa, Masanori; Morishita, Shinichi; Tsuji, Shoji; Takashima, Hiroshi Share Save ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19Takahashi, Yuji; Fukuda, Yoko; Yoshimura, Jun; Toyoda, Atsushi; Kurppa, Kari; Moritoyo, Hiroyoko; Belzil, Veronique V.; Dion, Patrick A.; Higasa, Koichiro; Doi, Koichiro; Ishiura, Hiroyuki; Mitsui, Jun; Date, Hidetoshi; Ahsan, Budrul; Matsukawa, Takashi; Ichikawa, Yaeko; Moritoyo, Takashi; Ikoma, Mayumi; Hashimoto, Tsukasa; Kimura, Fumiharu; Murayama, Shigeo; Onodera, Osamu; Nishizawa, Masatoyo; Yoshida, Mari; Atsuta, Naoki; Sobue, Gen; Fifita, Jennifer A.; Williams, Kelly L.; Blair, Ian P.; Nicholson, Garth A.; Gonzalez-Perez, Paloma; Brown, Robert H., Jr.; Nomoto, Masahiro; Elenius, Klaus; Rouleau, Guy A.; Fujiyama, Asao; Morishita, Shinichi; Goto, Jun; Tsuji, Shoji Share Save A Recurrent De Novo FAM111A Mutation Causes Kenny-Caffey Syndrome Type 2Isojima, Tsuyoshi; Doi, Koichiro; Mitsui, Jun; Oda, Yoichiro; Tokuhiro, Etsuro; Yasoda, Akihiro; Yorifuji, Tohru; Horikawa, Reiko; Yoshimura, Jun; Ishiura, Hiroyuki; Morishita, Shinichi; Tsuji, Shoji; Kitanaka, Sachiko Share Save Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1Ichikawa, Yaeko; Ishiura, Hiroyuki; Mitsui, Jun; Takahashi, Yuji; Kobayashi, Shunsuke; Takuma, Hiroshi; Kanazawa, Ichiro; Doi, Koichiro; Yoshimura, Jun; Morishita, Shinichi; Goto, Jun; Tsuji, Shoji Share Save 
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