Tohnai Genki 藤内玄規

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TOHNAI Genki 藤内玄規

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Researcher Number	00748353
Other IDs
Affiliation (Current)	2025: 愛知医科大学, ALS治療研究開発部門, 助教
Affiliation (based on the past Project Information) *help	2022 – 2023: 愛知医科大学, ALS治療研究開発部門, 助教 2022 – 2023: 愛知医科大学, 加齢医科学研究所, 助教 2021: 愛知医科大学, 公私立大学の部局等, 助教 2016 – 2020: 名古屋大学, 医学系研究科, 特任助教 2018: 名古屋大学, 大学院医学系研究科, 特任助教 2015: 名古屋大学, 医学(系)研究科(研究院), 特任助教
Review Section/Research Field	Principal Investigator Neurology / Basic Section 51030:Pathophysiologic neuroscience-related / Basic Section 43020:Structural biochemistry-related Except Principal Investigator Basic Section 52020:Neurology-related / Neurology / Basic Section 51030:Pathophysiologic neuroscience-related
Keywords	Principal Investigator 筋萎縮性側索硬化症 / ALS / 球脊髄性筋萎縮症 / タンパク質品質管理機構 / 運動ニューロン / SBMA / 運動ニューロン疾患 / 神経変性疾患 / iPS細胞 / タンパク質品質管理 / TBK1 / タクロリムス … More Except Principal Investigator … More 筋萎縮性側索硬化症 / ALS / 次世代シークエンサー / ACSL5 / THSD7A / FGF1 / VCP / missing heritability / リピート伸長変異 / missing heritabbility / 構造多型 / LRP1 / 疾患レジストリ / 神経病理解析 / ターゲットリシークエンス / 網羅的遺伝子解析 / ATXN3 / 遺伝子変異 / SOD1 / KIF5A / FTLD疾患関連遺伝子 / ALS疾患関連遺伝子 / 高次機能障害 / 筋萎縮性側策硬化症 / TBK1 / FTD / 網羅的解析 / 前頭側頭葉変性症 / 高次脳機能障害 / 治療薬探索 / 予後関連因子 / 予後因子 Less

ALSにおける老化によるタンパク質品質管理機構の発現変化と病態への影響Principal Investigator
- Principal Investigator
  
  藤内玄規
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 51030:Pathophysiologic neuroscience-related
- Research Institution
  Aichi Medical University
Elucidating the heterogeneity of amyotrophic lateral sclerosis by neuropathological analysis linked to clinical genomic information
- Principal Investigator
  
  熱田直樹
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 51030:Pathophysiologic neuroscience-related
- Research Institution
  Aichi Medical University
筋萎縮性側索硬化症のmissing heritabilityに関わる遺伝子の探索
- Principal Investigator
  
  中村亮一
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52020:Neurology-related
- Research Institution
  Aichi Medical University
異常タンパク分解系を標的とした運動ニューロン疾患治療薬の開発Principal Investigator
- Principal Investigator
  
  藤内玄規
- Project Period (FY)
  2019 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 43020:Structural biochemistry-related
- Research Institution
  Aichi Medical University
  Nagoya University
候補遺伝子アプローチによる筋萎縮性側索硬化症病態関連遺伝子の探索
- Principal Investigator
  
  中村亮一
- Project Period (FY)
  2019 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52020:Neurology-related
- Research Institution
  Aichi Medical University
  Nagoya University
Therapeutic development based on factors affecting progression and prognosis of amyotrophic lateral sclerosis
- Principal Investigator
  
  Atsuta Naoki
- Project Period (FY)
  2017 – 2019
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  Nagoya University
Expression and role of autophagy-related molecules in motor neuron diseasePrincipal Investigator
- Principal Investigator
  
  Tohnai Genki
- Project Period (FY)
  2017 – 2018
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Neurology
- Research Institution
  Nagoya University
Analysis of genes affecting cognitive function in sporadic ALS
- Principal Investigator
  
  Nakamura Ryoichi
- Project Period (FY)
  2017 – 2018
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Neurology
- Research Institution
  Nagoya University
Development of a novel therapy for neurodegenerative disease using tacrolimus derivativePrincipal Investigator
- Principal Investigator
  
  TOHNAI Genki
- Project Period (FY)
  2015 – 2016
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Neurology
- Research Institution
  Nagoya University

All 2023 2022 2021 2020 2019 2018 2017 2016 2015

All Journal Article Presentation Patent

[Journal Article] Genetic factors affecting survival in Japanese patients with sporadic amyotrophic lateral sclerosis: a genome-wide association study and verification in iPSC-derived motor neurons from patients2023
- Author(s)
  Nakamura R, Tohnai G, Nakatochi M,… Onodera K, Ito T, Okada Y, Okano H, Sobue G
- Journal Title
  
  Journal of Neurology, Neurosurgery & Psychiatry
  
  Volume: 94 Issue: 10 Pages: 816-824
- DOI
  10.1136/jnnp-2022-330851
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22K15739, KAKENHI-PROJECT-19K06523, KAKENHI-PROJECT-19K07973, KAKENHI-PROJECT-21K07471, KAKENHI-PROJECT-22K07359, KAKENHI-PROJECT-22K07509, KAKENHI-PROJECT-23K06955, KAKENHI-PROJECT-23K06975, KAKENHI-PROJECT-18K07539, KAKENHI-PROJECT-19K07969, KAKENHI-PROJECT-23K24249
[Journal Article] The SYNGAP1 3'UTR Variant in ALS Patients Causes Aberrant SYNGAP1 Splicing and Dendritic Spine Loss by Recruiting HNRNPK.2022
- Author(s)
  Yokoi S, Ito T, Sahashi K, Nakatochi M, Nakamura R, Tohnai G, Fujioka Y, Ishigaki S, Udagawa T, Izumi Y, Morita M, Kano O, Oda M, Sone T, Okano H, Atsuta N, Katsuno M, Okada Y, Sobue G.
- Journal Title
  
  J Neurosci.
  
  Volume: 42（47） Pages: 8881-8896
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K07359
[Journal Article] The SYNGAP1 3'UTR variant in ALS patients causes aberrant SYNGAP1 splicing and dendritic spine loss by recruiting HNRNPK2022
- Author(s)
  Yokoi S, Ito T, Sahashi K, Nakatochi M, Tohnai G, Nakamura R, Fujioka Y, Ishigaki S, Udagawa T, Izumi Y, Morita M, Kano O, Oda M, Sone T, Okano H, Atsuta N, Katsuno M, Okada Y*, Sobue G*
- Journal Title
  
  Journal of Neuroscience
  
  Volume: 42 Issue: 47 Pages: 8881-8896
- DOI
  10.1523/jneurosci.0455-22.2022
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07539, KAKENHI-PROJECT-19K07969, KAKENHI-PROJECT-19K07973, KAKENHI-PROJECT-21K07471, KAKENHI-PROJECT-22K07509, KAKENHI-PROJECT-22K07515, KAKENHI-PROJECT-22K07545, KAKENHI-PROJECT-20K16611, KAKENHI-PROJECT-21K15622, KAKENHI-PROJECT-17K19465, KAKENHI-PROJECT-18K15470, KAKENHI-PROJECT-19H03576, KAKENHI-PROJECT-23K24249, KAKENHI-PROJECT-23K21410
[Journal Article] Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis2022
- Author(s)
  Tohnai Genki、Nakamura Ryoichi、Atsuta Naoki、(他29名) Sobue Gen
- Journal Title
  
  Neurobiology of Aging
  
  Volume: 113 Pages: 131-136
- DOI
  10.1016/j.neurobiolaging.2021.12.002
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K06523, KAKENHI-PROJECT-22K07359, KAKENHI-PROJECT-22K07509, KAKENHI-PROJECT-19K07973
[Journal Article] Genetic and functional analysis of KIF5A variants in Japanese patients with sporadic amyotrophic lateral sclerosis2021
- Author(s)
  Nakamura R, Tohnai G, Atsuta N, Nakatochi M, Hayashi N, Watanabe H, Yokoi D, Watanabe H, Katsuno M, Izumi Y, Taniguchi A, Kanai K, Morita M, Kano O, Kuwabara S, Oda M, Abe K, Aoki M, Aiba I, Okamoto K, Mizoguchi K, Hattori N, Nakashima K, Kaji R, Sobue G
- Journal Title
  
  Neurobiology of Aging
  
  Volume: 97 Pages: 147.e11-147.e17
- DOI
  10.1016/j.neurobiolaging.2020.07.010
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K07973
[Journal Article] A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis.2020
- Author(s)
  Nakamura R, Misawa K, Tohnai G, Nakatochi M, Furuhashi S, Atsuta N, Hayashi N, Yokoi D, Watanabe H, Watanabe H, Katsuno M, Izumi Y, Kanai K, Hattori N, Morita M, Taniguchi A, Kano O, Oda M, Shibuya K, Kuwabara S, Suzuki N, Aoki M, Ohta Y, Yamashita T, Abe K, Hashimoto R, Aiba I, Okada Y, Nagasaki M, Sobue G. et al.,
- Journal Title
  
  Commun Biol.
  
  Volume: 23 Issue: 1 Pages: 526-526
- DOI
  10.1038/s42003-020-01251-2
- NAID
  120007178464
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07539, KAKENHI-PROJECT-19K07973, KAKENHI-PROJECT-20K07754, KAKENHI-PROJECT-20K12157, KAKENHI-PROJECT-17K19465, KAKENHI-PROJECT-19H03576, KAKENHI-PROJECT-17K10432, KAKENHI-PROJECT-18K07519
[Journal Article] 増大特集 ALS2019 ALSにおける患者レジストリの役割-JaCALSなど2019
- Author(s)
  熱田直樹、中村亮一、林直毅、藤内玄規、勝野雅央、祖父江元
- Journal Title
  
  BRAIN and NERVE
  
  Volume: 71 Issue: 11 Pages: 1215-1225
- DOI
  10.11477/mf.1416201431
- ISSN
  1344-8129, 1881-6096
- Year and Date
  2019-11-01
- Data Source
  KAKENHI-PROJECT-19K07973, KAKENHI-PROJECT-17K09778
[Journal Article] Multi-Ethnic Comparison of the Characteristics of Amyotrophic Lateral Sclerosis-Related TBK1 Gene Variants2019
- Author(s)
  Tohnai Genki、Nakamura Ryoichi、Nakatochi Masahiro、Atsuta Naoki、Katsuno Masahisa、Sobue Gen
- Journal Title
  
  Journal of Neurology & Neuromedicine
  
  Volume: 4 Issue: 1 Pages: 7-11
- DOI
  10.29245/2572.942x/2019/1.1236
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K16116, KAKENHI-PROJECT-17K16118
[Journal Article] Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis2018
- Author(s)
  Tohnai Genki、Nakamura Ryoichi、Sone Jun、Nakatochi Masahiro、Yokoi Daichi、Katsuno Masahisa、Watanabe Hazuki、Watanabe Hirohisa、Ito Mizuki、Li Yuanzhe、Izumi Yuishin、et al. Atsuta Naoki、Sobue Gen
- Journal Title
  
  Neurobiology of Aging
  
  Volume: 64 Pages: 158.e15-158.e19
- DOI
  10.1016/j.neurobiolaging.2017.12.005
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K09778, KAKENHI-PROJECT-17K16116, KAKENHI-PROJECT-17K16118, KAKENHI-ORGANIZER-26117001, KAKENHI-PLANNED-26117002, KAKENHI-PLANNED-26117006, KAKENHI-PROJECT-17J03762
[Journal Article] Citrullination of RGG Motifs in FET Proteins by PAD4 Regulates Protein Aggregation and ALS Susceptibility2018
- Author(s)
  Tanikawa Chizu、Ueda Koji、Suzuki Akari、Iida Aritoshi、Nakamura Ryoichi、Atsuta Naoki、Tohnai Genki、Sobue Gen、Saichi Naomi、Momozawa Yukihide、Kamatani Yoichiro、Kubo Michiaki、Yamamoto Kazuhiko、Nakamura Yusuke、Matsuda Koichi
- Journal Title
  
  Cell Reports
  
  Volume: 22 Issue: 6 Pages: 1473-1483
- DOI
  10.1016/j.celrep.2018.01.031
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16KT0116, KAKENHI-PROJECT-16K08634, KAKENHI-PROJECT-17K09778, KAKENHI-PROJECT-17K16116, KAKENHI-PROJECT-26710007, KAKENHI-PUBLICLY-16H01566, KAKENHI-PROJECT-16H02676
[Journal Article] 【神経疾患のゲノム医療】筋萎縮性側索硬化症のゲノム医療2017
- Author(s)
  中村亮一, 藤内玄規, 熱田直樹, 勝野雅央, 祖父江元
- Journal Title
  
  神経内科
  
  Volume: 86 Pages: 678-685
- Data Source
  KAKENHI-PROJECT-17K16116
[Journal Article] BIIB021, a synthetic Hsp90 inhibitor, induces mutant ataxin-1 degeneration through the activation of heat shock factor 1.2016
- Author(s)
  Ding Y, Adachi H, Katsuno M, Sahashi K, Kondo N, Iida M, Tohnai G, Nakatsuji H, Sobue G
- Journal Title
  
  Neuroscience
  
  Volume: S0306-4522 Pages: 30051-30053
- DOI
  10.1016/j.neuroscience.2016.03.064
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-26860665, KAKENHI-PROJECT-26293207, KAKENHI-PROJECT-15K19482
[Patent] ＡＬＳ患者の予後予測の検査方法、検査キット及び医薬のスクリーニング方法2020
- Inventor(s)
  祖父江元、中村亮一、藤内玄規、中杤昌弘、熱田直樹
- Industrial Property Rights Holder
  祖父江元、中村亮一、藤内玄規、中杤昌弘、熱田直樹
- Industrial Property Rights Type
  特許
- Patent Publication Number
  2021-180643
- Filing Date
  2020
- Acquisition Date
  2021
- Data Source
  KAKENHI-PROJECT-19K07973
[Presentation] Frequency and pathogenicity analysis of DNAJC7 gene variants in Japanese patients with ALS2023
- Author(s)
  Genki Tohnai, Ryoichi Nakamura, Naoki Atsuta, Masahiro Nakatochi, Masahisa Katsuno, Yuishin Izumi, Akira Taniguchi, Nobutaka Hattori, Mitsuya Morita, Osamu Kano, Satoshi Kuwabara, Masaya Oda, Koji Abe, Kouichi Mizoguchi, Ryuji Kaji, Gen Sobue
- Organizer
  PACTALS 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K06523
[Presentation] ALSの早期診断：遺伝子診断2023
- Author(s)
  中村亮一、熱田直樹、藤内玄規、丹羽淳一、道勇学、祖父江元
- Organizer
  第64回日本神経学会学術大会
- Invited
- Data Source
  KAKENHI-PROJECT-22K07509
[Presentation] ALSの早期診断：遺伝子診断2023
- Author(s)
  中村亮一、熱田直樹、藤内玄規、丹羽淳一、道勇学、祖父江元
- Organizer
  第64回日本神経学会学術大会
- Invited
- Data Source
  KAKENHI-PROJECT-19K07973
[Presentation] Verification of genetic factors affecting survival in Japanese patients with sporadic amyotrophic lateral sclerosis2023
- Author(s)
  Ryoichi Nakamura, Genki Tohnai, Masahiro Nakatochi, Naoki Atsuta, Hirohisa Watanabe, Daisuke Ito, Masahisa Katsuno, Yuishin Izumi, et al.
- Organizer
  PACTALS 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K07973
[Presentation] Verification of genetic factors affecting survival in Japanese patients with sporadic amyotrophic lateral sclerosis2023
- Author(s)
  Ryoichi Nakamura, Genki Tohnai, Masahiro Nakatochi, Naoki Atsuta, Hirohisa Watanabe, Daisuke Ito, Masahisa Katsuno, Yuishin Izumi, et al.
- Organizer
  PACTALS 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K07509
[Presentation] Development of Therapeutic Drugs Using iPS Cell-Derived Motor Neurons from ALS Patients2023
- Author(s)
  Genki Tohnai, Ryoichi Nakamura, Naoki Atsuta, Kazunari Onodera, Youhei Okada, Gen Sobue
- Organizer
  PACTALS 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K06835
[Presentation] Genetic factors affecting survival in Japanese patients with sporadic amyotrophic lateral sclerosis: a genome-wide association study and verification in iPSC-derived motor neurons from patients2023
- Author(s)
  Ryoichi Nakamura, Genki Tohnai, Masahiro Nakatochi, Naoki Atsuta, Daisuke Ito, Masahisa Katsuno, Yuishin Izumi, Mitsuya Morita, Takehisa Hirayama, Osamu Kano, et al.
- Organizer
  34th International Symposium on ALS/MND
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K07509
[Presentation] Clinicopathological and genetic characteristics of amyotrophic lateral sclerosis patients with SOD1-Gly93Ser mutation in Japan2023
- Author(s)
  Ryoichi Nakamura, Yuichi Riku, Masahiro Nakatochi, Naoki Atsuta, Genki Tohnai, Daisuke Ito, Yuishin Izumi, Rina Hashimoto, Ikuko Aiba, et al.
- Organizer
  PACTALS 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K07509
[Presentation] Genetic factors affecting survival in Japanese patients with sporadic amyotrophic lateral sclerosis: a genome-wide association study and verification in iPSC-derived motor neurons from patients2023
- Author(s)
  Ryoichi Nakamura, Genki Tohnai, Masahiro Nakatochi, Naoki Atsuta, Daisuke Ito, Masahisa Katsuno, Yuishin Izumi, Mitsuya Morita, Takehisa Hirayama, Osamu Kano, et al.
- Organizer
  34th International Symposium on ALS/MND
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K07973
[Presentation] Clinicopathological and genetic characteristics of amyotrophic lateral sclerosis patients with SOD1-Gly93Ser mutation in Japan2023
- Author(s)
  Ryoichi Nakamura, Yuichi Riku, Masahiro Nakatochi, Naoki Atsuta, Genki Tohnai, Daisuke Ito, Yuishin Izumi, Rina Hashimoto, Ikuko Aiba, et al.
- Organizer
  PACTALS 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K07973
[Presentation] SOD1-G93S変異陽性筋萎縮性側索硬化症患者の臨床遺伝学的特徴2022
- Author(s)
  中村亮一, 中杤昌弘, 熱田直樹, 藤内玄規, 伊藤大輔, 和泉唯信, 橋本里奈, 饗場郁子, 溝口功一, 金井数明, 青木正志, 柴田俊, 伊藤千弘, 湯淺知子, 徳井啓介, 川頭祐一, 丹羽淳一, 道勇学, 勝野雅央, 祖父江元
- Organizer
  第63回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-19K07973
[Presentation] SOD1-G93S変異陽性筋萎縮性側索硬化症患者の臨床遺伝学的及び病理学的特徴2022
- Author(s)
  中村亮一、中杤昌弘、陸雄一、熱田直樹、藤内玄規、伊藤大輔、和泉　唯信、橋本里奈、饗場郁子、溝口功一、金井数明、青木正志、徳井啓介、川頭祐一、丹羽淳一、道勇学、岩崎靖、吉田眞理、勝野雅央、祖父江元
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-19K07973
[Presentation] ALSに対するprecision medicineに向けて2022
- Author(s)
  熱田直樹, 中村亮一, 藤内玄規, 祖父江元
- Organizer
  第63回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-19K07973
[Presentation] SOD1-G93S変異陽性筋萎縮性側索硬化症患者の臨床遺伝学的及び病理学的特徴2022
- Author(s)
  中村亮一、中杤昌弘、陸雄一、熱田直樹、藤内玄規、伊藤大輔、和泉　唯信、橋本里奈、饗場郁子、溝口功一、金井数明、青木正志、徳井啓介、川頭祐一、丹羽淳一、道勇学、岩崎靖、吉田眞理、勝野雅央、祖父江元
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-22K07509
[Presentation] Two novel variants in CHCHD2 associate with TDP-43 pathology among amyotrophic lateral sclerosis2022
- Author(s)
  Aya Ikeda, Manabu Funayama, Mari Yoshida, Yuanzhe Li, Tsuyoshi Inoshita , Kahori Shiba-fukushima, Hongrui Meng, Taku Amo, Ikuko Aiba, Yufuko Saito, Naoki Atsuta, Ryoichi Nakamura, Genki Tohnai, et al.
- Organizer
  第63回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-19K07973
[Presentation] SOD1-G93S変異陽性筋萎縮性側索硬化症患者の臨床遺伝学的特徴2022
- Author(s)
  中村亮一, 中杤昌弘, 熱田直樹, 藤内玄規, 伊藤大輔, 和泉唯信, 橋本里奈, 饗場郁子, 溝口功一, 金井数明, 青木正志, 柴田俊, 伊藤千弘, 湯淺知子, 徳井啓介, 川頭祐一, 丹羽淳一, 道勇学, 勝野雅央, 祖父江元
- Organizer
  第63回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-22K07509
[Presentation] ALSに対するprecision medicineに向けて2022
- Author(s)
  熱田直樹, 中村亮一, 藤内玄規, 祖父江元
- Organizer
  第63回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-22K07509
[Presentation] A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with ALS2021
- Author(s)
  Ryoichi Nakamura, Kazuharu Misawa, Genki Tohnai, Masahiro Nakatochi, Naoki Atsuta, Naoki Hayashi, Masahisa Katsuno, Yuishin Izumi, Nobutaka Hattori, Mitsuya Morita, Akira Taniguchi, Osamu Kano, Masaya Oda, Satoshi Kuwabara, Ryuji Kaji, Yukihide Momozawa, Masao Nagasaki, Gen Sobue
- Organizer
  第62回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-19K07973
[Presentation] Mutation screening of theDNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis2021
- Author(s)
  Genki Tohnai, Ryoichi Nakamura, Naoki Atsuta, Masahiro Nakatochi, Naoki Hayashi, Masahisa Katsuno, Yuishin Izumi, Akira Taniguchi, Nobutaka Hattori, Mitsuya Morita, Osamu Kano, Satoshi Kuwabara, Masaya Oda, Koji Abe, Kouichi Mizoguchi, Ryuji Kaji, Gen Sobue
- Organizer
  PACTALS 2021
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K06523
[Presentation] Genetic analysis of KIF5A gene in Japanese patients with sporadic ALS.2021
- Author(s)
  Ryoichi Nakamura, Naoki Atsuta, Genki Tohnai, Masahiro Nakatochi, Naoki Hayashi, Masahisa Katsuno, Yuishin Izumi, Akira Taniguchi, Nobutaka Hattori, Mitsuya Morita, Osamu Kano, Satoshi Kuwabara, Masaya Oda, Koji Abe, Kouichi Mizoguchi, Ryuji Kaji, Jun-ichi Niwa, Manabu Doyu, Gen Sobue
- Organizer
  PACTALS 2020
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K07973
[Presentation] 孤発性・家族性神経疾患のゲノム研究　ALSのゲノム研究2021
- Author(s)
  熱田直樹, 中村亮一, 藤内玄規, 祖父江元
- Organizer
  第62回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-19K07973
[Presentation] Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic ALS2021
- Author(s)
  Genki Tohnai, Ryoichi Nakamura, Jun Sone, Masahiro Nakatochi, Daichi Yokoi, Masahisa Katsuno, Yuishin Izumi, Mitsuya Morita, Akira Taniguchi, Satoshi Kuwabara, Koji Abe, Kouichi Mizoguchi, Masahi Aoki, Nobutaka Hattori, Shoji Tsuji, Naoki Atsuta, Gen Sobue
- Organizer
  PACTALS 2021
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K06523
[Presentation] Genome-wide meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis2021
- Author(s)
  Ryoichi Nakamura, Kazuharu Misawa, Genki Tohnai, Masahiro Nakatochi, Naoki Atsuta, Naoki Hayashi, Masahisa Katsuno, Yuishin Izumi, Nobutaka Hattori, Mitsuya Morita, Akira Taniguchi, Osamu Kano, Masaya Oda, Satoshi Kuwabara, Ryuji Kaji, Jun-ichi Niwa, Manabu Doyu, Masao Nagasaki, Gen Sobue
- Organizer
  PACTALS 2020
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K07973
[Presentation] 日本におけるSOD1遺伝子変異陽性筋萎縮性側索硬化症患者の臨床的特徴2020
- Author(s)
  中村亮一，熱田直樹，林直毅，藤内玄規，勝野雅央，和泉唯信，金井数明，服部信孝，谷口彰, 森田光哉, 狩野修, 澁谷和幹, 桑原聡, 鈴木直輝, 青木正志，阿部康二, 石原智彦, 小野寺理, 梶龍兒，祖父江元
- Organizer
  第61回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-19K07973
[Presentation] 日本人孤発性筋萎縮性側索硬化症患者における KIF5A 遺伝子変異の頻度と特徴2020
- Author(s)
  中村亮一、藤内玄規、熱田直樹、中杤昌弘、林直毅、渡辺宏久、勝野雅央、和泉唯信、谷口彰、森田光哉、狩野修、桑原聡、織田雅也、阿部康二、青木正志、溝口功一、服部信孝、梶龍兒、祖父江元
- Organizer
  日本人類遺伝学会第65回大会
- Data Source
  KAKENHI-PROJECT-19K07973
[Presentation] ビッグデータからみるALSの臨床像、遺伝子と治療開発の展望2020
- Author(s)
  熱田直樹, 中村亮一, 藤内玄規, 勝野雅央, 祖父江元
- Organizer
  第61回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-19K07973
[Presentation] Genetic and functional analysis of the KIF5A variants in Japanese patients with sporadic amyotrophic lateral sclerosis.2019
- Author(s)
  Ryoichi Nakamura, Naoki Atsuta, Genki Tohnai, Masahiro Nakatochi, Naoki Hayashi, Masahisa Katsuno, Yuishin Izumi, Akira Taniguchi, Nobutaka Hattori, Mitsuya Morita, Osamu Kano, Satoshi Kuwabara, Masaya Oda, Koji Abe, Kouichi Mizoguchi, Ryuji Kaji, Gen Sobue, JaCALS
- Organizer
  30th international symposium on ALS/MND
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K07973
[Presentation] Mutation analysis of KIF5A in Japanese patients with amyotrophic lateral sclerosis2019
- Author(s)
  中村亮一、熱田直樹、藤内玄規、中杤昌弘、林直毅、渡辺宏久、勝野雅央、和泉唯信、谷口彰、服部信孝、森田光哉、狩野修、桑原聡、織田雅也、阿部康二、溝口功一、梶龍兒、祖父江元、JaCALS
- Organizer
  第60回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-19K07973
[Presentation] Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic ALS2018
- Author(s)
  藤内玄規, 中村亮一, 曽根淳, 中杤昌弘, 横井大知, 勝野雅央, 和泉唯信, 森田光哉, 谷口彰, 桑原聡, 阿部康二, 溝口功一, 青木正志, 服部信孝, 辻省次, 梶龍兒, 熱田直樹, 祖父江元, JaCALS
- Organizer
  第59回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-17K16116
[Presentation] Validation of genetic factors affecting survival in Japanese ALS patients2018
- Author(s)
  Ryoichi Nakamura, Naoki Atsuta, Genki Tohnai, Masahiro Nakatochi, Naoki Hayashi, Daichi Yokoi, Hirohisa Watanabe, Masahisa Katsuno, et al.
- Organizer
  29th International Symposium on ALS/MND.
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K16116
[Presentation] Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic ALS2018
- Author(s)
  藤内玄規, 中村亮一, 曽根淳, 中杤昌弘, 横井大知, 勝野雅央, 和泉唯信, 森田光哉, 谷口彰, 桑原聡, 阿部康二, 溝口功一, 青木正志, 服部信孝, 辻省次, 梶龍兒, 熱田直樹, 祖父江元
- Organizer
  第59回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-17K16118
[Presentation] Validation of genetic factors affecting survival in Japanese ALS patients2018
- Author(s)
  中村亮一, 熱田直樹, 藤内玄規, 中杤昌弘, 林直毅, 横井大知, 渡辺宏久, 勝野雅央, 和泉唯信, 森田光哉, 谷口彰, 服部信孝, 狩野修, 織田雅也, 阿部康二, 桑原聡, 溝口功一, 梶龍兒, 祖父江元, JaCALS
- Organizer
  第59回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-17K16116
[Presentation] Therapeutic effect of tacrolimus and its derivative on a model of motor neuron disease2017
- Author(s)
  Genki Tohnai
- Organizer
  第9回NAGOYAグローバルリトリート
- Place of Presentation
  あいち健康プラザ(愛知県大府市）
- Year and Date
  2017-02-10
- Data Source
  KAKENHI-PROJECT-15K19482
[Presentation] Clinical characteristics of familial and sporadic amyotrophic lateral sclerosis patients with G93S mutation in the SOD1 gene.2017
- Author(s)
  Ryoichi Nakamura, Naoki Atsuta, Genki Tohnai, Daichi Yokoi, Hazuki Watanabe, Naoki Hayashi, Jun Sone, Mizuki Ito, Hirohisa Watanabe, Masahisa Katsuno, Yuishin Izumi, Rina Hashimoto, Ikuko Aiba, Kouichi Mizoguchi, Ryuji Kaji, & Gen Sobue, JaCALS.
- Organizer
  World Congress of Neurology
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K16116
[Presentation] 運動ニューロン疾患モデルにおけるタクロリムスとその誘導体の治療効果2016
- Author(s)
  藤内玄規
- Organizer
  第6回名古屋大学・生理学研究所合同シンポジウム
- Place of Presentation
  名古屋大学医学部附属病院(愛知県名古屋市）
- Year and Date
  2016-09-24
- Data Source
  KAKENHI-PROJECT-15K19482
[Presentation] 神経変性疾患モデルにおけるタクロリムスとその誘導体の治療効果2016
- Author(s)
  藤内玄規、勝野雅央、足立弘明、佐橋健太郎、近藤直英、中辻秀朗、飯田円、祖父江元
- Organizer
  第39回日本分子生物学会年会
- Place of Presentation
  パシフィコ横浜(神奈川県横浜市）
- Year and Date
  2016-11-30
- Data Source
  KAKENHI-PROJECT-15K19482
[Presentation] 球脊髄性筋萎縮症モデルにおけるタクロリムス誘導体の治療効果2015
- Author(s)
  藤内玄規、足立弘明、勝野雅央、佐橋健太郎、近藤直英、中辻秀朗、飯田円、祖父江元
- Organizer
  第33回日本神経治療学会総会
- Place of Presentation
  名古屋国際会議場（愛知県名古屋市）
- Year and Date
  2015-11-26
- Data Source
  KAKENHI-PROJECT-15K19482

1. Atsuta Naoki (90547457)

# of Collaborated Projects: 6 results

# of Collaborated Products: 34 results
2. Nakamura Ryoichi (80723030)

# of Collaborated Projects: 6 results

# of Collaborated Products: 34 results
3. KATSUNO Masahisa (50402566)

# of Collaborated Projects: 4 results

# of Collaborated Products: 23 results
4. 祖父江元 (20148315)

# of Collaborated Projects: 4 results

# of Collaborated Products: 7 results
5. 道勇学 (90293703)

# of Collaborated Projects: 2 results

# of Collaborated Products: 3 results
6. 佐橋健太郎 (90710103)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
7. 陸雄一 (50748382)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
8. 岡田洋平 (30383714)

# of Collaborated Projects: 1 results

# of Collaborated Products: 3 results
9. UEDA Koji

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
10. 近藤直英

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
11. 伊藤卓治

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
12. 小野寺一成

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Tohnai Genki 藤内 玄規

TOHNAI Genki 藤内 玄規

Research Projects

Research Products

Co-Researchers

ALSにおける老化によるタンパク質品質管理機構の発現変化と病態への影響Principal Investigator

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Elucidating the heterogeneity of amyotrophic lateral sclerosis by neuropathological analysis linked to clinical genomic information

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筋萎縮性側索硬化症のmissing heritabilityに関わる遺伝子の探索

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異常タンパク分解系を標的とした運動ニューロン疾患治療薬の開発Principal Investigator

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候補遺伝子アプローチによる筋萎縮性側索硬化症病態関連遺伝子の探索

Principal Investigator

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Therapeutic development based on factors affecting progression and prognosis of amyotrophic lateral sclerosis

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Expression and role of autophagy-related molecules in motor neuron diseasePrincipal Investigator

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Analysis of genes affecting cognitive function in sporadic ALS

Principal Investigator

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Development of a novel therapy for neurodegenerative disease using tacrolimus derivativePrincipal Investigator

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Research Institution

[Journal Article] Genetic factors affecting survival in Japanese patients with sporadic amyotrophic lateral sclerosis: a genome-wide association study and verification in iPSC-derived motor neurons from patients2023

Author(s)

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Data Source

[Journal Article] The SYNGAP1 3'UTR Variant in ALS Patients Causes Aberrant SYNGAP1 Splicing and Dendritic Spine Loss by Recruiting HNRNPK.2022

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[Journal Article] The SYNGAP1 3'UTR variant in ALS patients causes aberrant SYNGAP1 splicing and dendritic spine loss by recruiting HNRNPK2022

Author(s)

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Data Source

[Journal Article] Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Genetic and functional analysis of KIF5A variants in Japanese patients with sporadic amyotrophic lateral sclerosis2021

Author(s)

Tohnai Genki 藤内玄規

TOHNAI Genki 藤内玄規

[Journal Article] 【神経疾患のゲノム医療】筋萎縮性側索硬化症のゲノム医療2017