M
Masaki Tanaka
Researcher at University of Tokyo
Publications - 29
Citations - 851
Masaki Tanaka is an academic researcher from University of Tokyo. The author has contributed to research in topics: Functional magnetic resonance imaging & Exome sequencing. The author has an hindex of 12, co-authored 29 publications receiving 546 citations. Previous affiliations of Masaki Tanaka include International University of Health and Welfare & Juntendo University.
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Journal ArticleDOI
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.
Hiroyuki Ishiura,Shota Shibata,Jun Yoshimura,Yuta Suzuki,Wei Qu,Koichiro Doi,Koichiro Doi,M. Asem Almansour,Junko Kanda Kikuchi,Makiko Taira,Makiko Taira,Jun Mitsui,Yuji Takahashi,Yaeko Ichikawa,Yaeko Ichikawa,Tatsuo Mano,Atsushi Iwata,Yasuo Harigaya,Miho Matsukawa,Takashi Matsukawa,Masaki Tanaka,Masaki Tanaka,Yuichiro Shirota,Ryo Ohtomo,Hisatomo Kowa,Hisatomo Kowa,Hidetoshi Date,Aki Mitsue,Hiroyuki Hatsuta,Satoru Morimoto,Shigeo Murayama,Yasushi Shiio,Yuko Saito,Akihiko Mitsutake,Mizuho Kawai,Takuya Sasaki,Yusuke Sugiyama,Masashi Hamada,Gaku Ohtomo,Yasuo Terao,Yasuo Terao,Yoshihiko Nakazato,Akitoshi Takeda,Yoshio Sakiyama,Yumi Umeda-Kameyama,Jun Shinmi,Katsuhisa Ogata,Yutaka Kohno,Shen-Yang Lim,Ai Huey Tan,Jun Shimizu,Jun Goto,Jun Goto,Ichizo Nishino,Tatsushi Toda,Shinichi Morishita,Shoji Tsuji,Shoji Tsuji +57 more
TL;DR: Whole-genome sequencing identifies noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and Oculopharyngealmyopathy with leukoencephalopathy, three disorders with overlapping clinical features and neuroimaging findings.
Journal ArticleDOI
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
Hiroyuki Ishiura,Koichiro Doi,Jun Mitsui,Jun Yoshimura,Miho Matsukawa,Asao Fujiyama,Yasuko Toyoshima,Akiyoshi Kakita,Hitoshi Takahashi,Yutaka Suzuki,Sumio Sugano,Wei Qu,Kazuki Ichikawa,Hideaki Yurino,Koichiro Higasa,Shota Shibata,Aki Mitsue,Masaki Tanaka,Yaeko Ichikawa,Yuji Takahashi,Hidetoshi Date,Takashi Matsukawa,Junko Kanda,Fumiko Kusunoki Nakamoto,Mana Higashihara,Koji Abe,Ryoko Koike,Mutsuo Sasagawa,Yasuko Kuroha,Naoya Hasegawa,Norio Kanesawa,Takayuki Kondo,Takefumi Hitomi,Masayoshi Tada,Hiroki Takano,Yutaka Saito,Kazuhiro Sanpei,Osamu Onodera,Masatoyo Nishizawa,Masayuki Nakamura,Takeshi Yasuda,Yoshio Sakiyama,Mieko Otsuka,Akira Ueki,K. Kaida,Jun Shimizu,Ritsuko Hanajima,Toshihiro Hayashi,Yasuo Terao,Satomi Inomata-Terada,Masashi Hamada,Yuichiro Shirota,Akatsuki Kubota,Yoshikazu Ugawa,Kishin Koh,Yoshihisa Takiyama,Natsumi Ohsawa-Yoshida,Shoichi Ishiura,Shoichi Ishiura,Ryo Yamasaki,Akira Tamaoka,Hiroshi Akiyama,Taisuke Otsuki,Akira Sano,Akio Ikeda,Jun Goto,Shinichi Morishita,Shoji Tsuji,Shoji Tsuji +68 more
TL;DR: It is shown that abnormal expansions of TTTCA and TTTTA repeats in intron 4 of SAMD12 cause benign adult familial myoclonic epilepsy (BAFME), and RNA toxicity as the mechanism underlying disease pathogenesis is identified.
Journal ArticleDOI
Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan
Megumi Yamada,Masaki Tanaka,Mari Takagi,Seiju Kobayashi,Yoshiharu Taguchi,Shutaro Takashima,Kortaro Tanaka,Tetsuo Touge,Hiroyuki Hatsuta,Shigeo Murayama,Yuichi Hayashi,Masayuki Kaneko,Hiroyuki Ishiura,Jun Mitsui,Naoki Atsuta,Gen Sobue,Nobuyuki Shimozawa,Takashi Inuzuka,Shoji Tsuji,Isao Hozumi +19 more
TL;DR: SLC20A2 mutations are a major cause of familial IBGC in Japan and the members in the families with the same mutation had similar patterns of calcification in the brain and the affected members showed similar clinical manifestations.
Journal ArticleDOI
Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation.
Hiroya Naruse,Hiroyuki Ishiura,Jun Mitsui,Hidetoshi Date,Yuji Takahashi,Takashi Matsukawa,Masaki Tanaka,Akiko Ishii,Akira Tamaoka,Keiichi Hokkoku,Masahiro Sonoo,Mari Segawa,Yoshikazu Ugawa,Koichiro Doi,Jun Yoshimura,Shinichi Morishita,Jun Goto,Shoji Tsuji +17 more
TL;DR: A novel c.862/1018C>G (p.P288A/340A) mutation in HNRNPA1 located in the nuclear localization signal domain of hnRNPA1, enhances the recruitment of mutant hn RNPA1 into stress granules, indicating that an alterednuclear localization signal activity plays an essential role in amyotrophic lateral sclerosis pathogenesis.
Journal ArticleDOI
Lateral-Medial Dissociation in Orbitofrontal Cortex-Hypothalamus Connectivity.
Satoshi Hirose,Takahiro Osada,Takahiro Osada,Akitoshi Ogawa,Masaki Tanaka,Hiroyuki Wada,Yasunori Yoshizawa,Yoshio Imai,Toru Machida,Masaaki Akahane,Ichiro Shirouzu,Seiki Konishi,Seiki Konishi +12 more
TL;DR: A functional double dissociation is found in the OFC: the lateral OFC (the lateral orbital gyrus) was more likely connected with the lateral hypothalamus, whereas the medial OFC(the medial orbital and rectal gyri)was more likelyconnected with the medial hypothalamus.