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Nishiyama Ayumi  西山 亜由美

ORCIDConnect your ORCID iD *help
Researcher Number 50805413
Other IDs
Affiliation (Current) 2026: 東北大学, 大学病院, 助教
Affiliation (based on the past Project Information) *help 2026: 東北大学, 大学病院, 医員
2024: 東北大学, 大学病院, 医員
2020 – 2022: 東北大学, 医学系研究科, 大学院非常勤講師
2017 – 2019: 東北大学, 大学病院, 医員
Review Section/Research Field
Principal Investigator
Basic Section 52020:Neurology-related / Neurology
Keywords
Principal Investigator
神経変性疾患 / 遺伝子 / 遺伝子治療 / 表現型 / SOD1 / 筋萎縮性側索硬化症
  • Research Projects

    (3 results)
  • Research Products

    (6 results)
  •  家族性ALSにおけるゲノム配列・リピート長に着目した網羅的解析と病態解明Principal Investigator

    • Principal Investigator
      西山 亜由美
    • Project Period (FY)
      2026 – 2028
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52020:Neurology-related
    • Research Institution
      Tohoku University
  •  Establishment of a pipeline to elucidate the pathogenicity of novel variants in familial ALSPrincipal Investigator

    • Principal Investigator
      Nishiyama Ayumi
    • Project Period (FY)
      2023 – 2024
    • Research Category
      Grant-in-Aid for Early-Career Scientists
    • Review Section
      Basic Section 52020:Neurology-related
    • Research Institution
      Tohoku University
  •  Elucidation of the pathogenicity of novel gene mutations detected through comprehensive genetic analysis in familial ALSPrincipal Investigator

    • Principal Investigator
      Nishiyama Ayumi
    • Project Period (FY)
      2017 – 2018
    • Research Category
      Grant-in-Aid for Research Activity Start-up
    • Research Field
      Neurology
    • Research Institution
      Tohoku University

All 2024 2021 2020 2018 2017

All Journal Article Presentation

  • [Journal Article] Updated Genetic Analysis of Japanese Familial ALS Patients Carrying SOD1 Variants Revealed Phenotypic Differences for Common Variants2024

    • Author(s)
      Nishiyama Ayumi、Niihori Tetsuya、Suzuki Naoki、Izumi Rumiko、Akiyama Tetsuya、Kato Masaaki、Funayama Ryo、Nakayama Keiko、Warita Hitoshi、Aoki Yoko、Aoki Masashi
    • Journal Title

      Neurology Genetics

      Volume: 10 Issue: 6

    • DOI

      10.1212/nxg.0000000000200196

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K16997
  • [Journal Article] Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis2021

    • Author(s)
      Shin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama
    • Journal Title

      Neurology Genetics

      Volume: 7 Issue: 1

    • DOI

      10.1212/nxg.0000000000000552

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K16997
  • [Presentation] Possible somatic mosaicism of a novel FUS variant in familial amyotrophic lateral sclerosis with different phenotypes2020

    • Author(s)
      Shin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N. Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama
    • Organizer
      日本人類遺伝学会第65回大会
    • Data Source
      KAKENHI-PROJECT-19K16997
  • [Presentation] Genotype-phenotype analysis of Japanese familial ALS pedigrees with SOD1 mutations2018

    • Author(s)
      西山 亜由美
    • Organizer
      第59回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-17H06526
  • [Presentation] Targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis2017

    • Author(s)
      西山亜由美
    • Organizer
      日本人類遺伝学会第62回大会
    • Data Source
      KAKENHI-PROJECT-17H06526
  • [Presentation] TARGETED NEXT-GENERATION SEQUENCING IN JAPANESE FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS REVEALS DIFFRENCES IN THE GENETIC VARIATIONS ACROSS POPULATIONS2017

    • Author(s)
      西山亜由美
    • Organizer
      第23回世界神経学会議
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17H06526

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