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TAKAHASHI Nobuya  高橋 信也

ORCIDConnect your ORCID iD *help
Researcher Number 20536958
Affiliation (based on the past Project Information) *help 2012 – 2015: 山形大学, 医学部, 医員
Review Section/Research Field
Except Principal Investigator
Pediatrics
Keywords
Except Principal Investigator
エクソーム解析 / 次世代シークエンサー / 呼吸鎖複合体 / 連鎖解析 / 軸索 / respiratory complex IV / cytochrome c oxidase / COX6A1 / チトクロームオキシダーゼ / 混合型 … More / 軸索型 / Charcot-Marie-Tooth病 / 遺伝性ニューロパチー / 遺伝子 / 次世代シーケンサー / 全エクソーム解析 / イオンチャネル / SCN8A / SCN2A / KCNQ2 / 遺伝子解析 / 大田原症候群 / てんかん Less
  • Research Projects

    (2 results)
  • Research Products

    (2 results)
  • Co-Researchers

    (9 People)
  •  Pathogenesis of Charcot-Marie-Tooth disease

    • Principal Investigator
      HAYASAKA Kiyoshi
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Yamagata University
  •  Identification of novel causative genes for early-onset epileptic encephalopathies using HRM analysis and next-generation sequencer

    • Principal Investigator
      KATO Mitsuhiro
    • Project Period (FY)
      2012 – 2014
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Yamagata University

All 2014 Other

All Journal Article Presentation

  • [Journal Article] Early onset epileptic encephalopathy caused by de novo SCN8A mutations2014

    • Author(s)
      Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H:
    • Journal Title

      Epilepsia

      Volume: 55 Issue: 7 Pages: 994-1000

    • DOI

      10.1111/epi.12668

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-22129005, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
  • [Presentation] SCN8Aのde novo変異が原因となる乳児期早期発症の難治性てんかんについての検討.

    • Author(s)
      大場ちひろ、加藤光広、高橋悟、寺嶋宙、久保田雅也、川脇壽、松藤まゆみ、小島泰子、舘野昭彦、中島光子、西山精視、鶴崎美徳、三宅紀子、田中章景、才津浩智、松本直通
    • Organizer
      日本人類遺伝学会第59回大会・日本遺伝子診療学会第21回大会合同大会
    • Place of Presentation
      タワーホール船堀(東京都江戸川区)
    • Year and Date
      2014-11-20 – 2014-11-22
    • Data Source
      KAKENHI-PROJECT-24591500
  • 1.  KATO Mitsuhiro (10292434)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 2.  KIKUCHI Takahiro (00594300)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 3.  NAKAMURA Kazuyuki (20436215)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 4.  MATSUMOTO Naomichi (80325638)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 5.  SAITSU Hirotomo (40402838)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 6.  HAYASAKA Kiyoshi (20142961)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 7.  NUMAKURA Chikahiko (00400549)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 8.  ABE Akiko (10536949)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 9.  TANAKA Fumiaki
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

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