OKAMOTO Yuji 岡本裕嗣

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Okamoto Yuji 岡本裕嗣

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Researcher Number	60709658
Affiliation (Current)	2025: 鹿児島大学, 医歯学総合研究科, 客員研究員
Affiliation (based on the past Project Information) *help	2020 – 2023: 鹿児島大学, 医歯学域医学系, 教授 2015 – 2019: 鹿児島大学, 医歯学域医学系, 講師 2014: 鹿児島大学, 医学部・歯学部附属病院, 助教
Review Section/Research Field	Principal Investigator Basic Section 52020:Neurology-related / Neurology Except Principal Investigator Basic Section 52020:Neurology-related / Radiation science
Keywords	Principal Investigator 次世代シークエンサー / 認知症 / 白質脳症 / ミトコンドリア病 / バイオマーカー / 小血管病 / 遺伝子診断 / 高齢者 / GDF－15 / メタボローム解析 … More / 髄液メタボローム解析 / GDF-15 / アポトーシス / クルミン / 治療 / ニューロパチー / 小胞体ストレス / HMSN-P / クルクミン / Charcot-Marie-Tooth病 … More Except Principal Investigator 分子疫学 / 遺伝子ニューロパチー / シャルコー・マリー・トーゥス病 / 遺伝性運動性ニューロパチー / ゲノム解析 / 遺伝性ニューロパチー / シャルコー・マリー・トゥース病 / 脊髄小脳失調症 / 遺伝子診断 / Charcot-Marie-Tooth病 / 遺伝性ニューロパシー / 核医学 / SUV / 骨格筋 / SPECT/CT / シンチグラフィ / MIBI / ミトコンドリア病 Less

Identification of mitochondrial disease as a cause of leukoencephalopathy and dementia and search for novel biomarkers.Principal Investigator
- Principal Investigator
  
  岡本裕嗣
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52020:Neurology-related
- Research Institution
  Kagoshima University
Mitochondrial Disease as a Cause of Leukoencephalopathy and Dementia: A Search for the Causal Genes of Mitochondrial DiseasePrincipal Investigator
- Principal Investigator
  
  Okamoto Yuji
- Project Period (FY)
  2020 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52020:Neurology-related
- Research Institution
  Kagoshima University
Elucidation of pathology by molecular genetic approach in Charcot-Marie-Tooth disease
- Principal Investigator
  
  Takashima Hiroshi
- Project Period (FY)
  2018 – 2020
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52020:Neurology-related
- Research Institution
  Kagoshima University
99mTc-MIBIイメージングによるミトコンドリア病の全身骨格筋評価法の開発
- Principal Investigator
  
  神宮司メグミ
- Project Period (FY)
  2017 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Radiation science
- Research Institution
  Kagoshima University
Analysis of molecular pathology of Charcot-Marie-Tooth disease and search for therapeutic drugsPrincipal Investigator
- Principal Investigator
  
  Okamoto Yuji
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  Kagoshima University

All 2024 2023 2022 2021 2020 2018 2017 2016 2015 2014

All Journal Article Presentation

[Journal Article] A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review2024
- Author(s)
  Kojima Fumikazu、Okamoto Yuji、Ando Masahiro、Higuchi Yujiro、Hobara Takahiro、Yuan Junhui、Yoshimura Akiko、Hashiguchi Akihiro、Matsuura Eiji、Takashima Hiroshi
- Journal Title
  
  neurogenetics
  
  Volume: - Issue: 2 Pages: 149-156
- DOI
  10.1007/s10048-024-00746-y
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K15713, KAKENHI-PROJECT-22K07495, KAKENHI-PROJECT-22K07519, KAKENHI-PROJECT-23K06966
[Journal Article] Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum2023
- Author(s)
  Higuchi Yujiro、Ando Masahiro、Kojima Fumikazu、Yuan Junhui、Hashiguchi Akihiro、Yoshimura Akiko、Hiramatsu Yu、Nozuma Satoshi、Fukumura Shinobu、Yahikozawa Hiroyuki、Abe Erika、Toyoshima Itaru、Sugawara Masashiro、Okamoto Yuji、Matsuura Eiji、Takashima Hiroshi
- Journal Title
  
  Journal of Neurology
  
  Volume: 271 Issue: 1 Pages: 419-430
- DOI
  10.1007/s00415-023-11998-3
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K15713, KAKENHI-PROJECT-22K07495, KAKENHI-PROJECT-22K07519, KAKENHI-PROJECT-23K06931, KAKENHI-PROJECT-23K06966, KAKENHI-PROJECT-21H02842
[Journal Article] Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes2022
- Author(s)
  Hiramatsu Yu、Okamoto Yuji、Yoshimura Akiko、Yuan Jun-Hui、Ando Masahiro、Higuchi Yujiro、Hashiguchi Akihiro、Matsuura Eiji、Takashima Hiroshi et al.
- Journal Title
  
  Journal of Neurology
  
  Volume: - Issue: 8 Pages: 4129-4140
- DOI
  10.1007/s00415-022-11026-w
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K16604, KAKENHI-PROJECT-21H02842, KAKENHI-PROJECT-20K07906, KAKENHI-PROJECT-21K15702, KAKENHI-PROJECT-20K07784, KAKENHI-PROJECT-22K07495, KAKENHI-PROJECT-22K07519, KAKENHI-PROJECT-22K15713
[Journal Article] Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan2021
- Author(s)
  Takaki Taniguchi, Masahiro Ando, Yuji Okamoto, Akiko Yoshimura, Yujiro Higuchi, Akihiro Hashiguchi, Kensuke Shiga, Arisa Hayashida, Taku Hatano, Hiroyuki Ishiura, Jun Mitsui, Nobutaka Hattori, Toshiki Mizuno, Masanori Nakagawa, Shoji Tsuji, Hiroshi Takashima
- Journal Title
  
  Clinical Genetics
  
  Volume: 99 Issue: 3 Pages: 359-375
- DOI
  10.1111/cge.13881
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K16604, KAKENHI-PROJECT-18H02742
[Journal Article] A Case of Mitochondrial Diabetes Mellitus Diagnosed by Development of Cognitive Decline2020
- Author(s)
  菊池晃、岡本裕嗣、橋口裕、吉重幸一、谷口雄大、出口尚寿、高嶋博、西尾善彦
- Journal Title
  
  Journal of the Japan Diabetes Society
  
  Volume: 63 Issue: 5 Pages: 344-349
- DOI
  10.11213/tonyobyo.63.344
- NAID
  130007849544
- ISSN
  0021-437X, 1881-588X
- Year and Date
  2020-05-30
- Language
  Japanese
- Data Source
  KAKENHI-PROJECT-20K07906
[Journal Article] The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins2020
- Author(s)
  Sawada J, Katayama T, Tokashiki T, Kikuchi S, Kano K, Takahashi K, Saito T, Adachi Y, Okamoto Y, Yoshimura A, Takashima H, Hasebe N.
- Journal Title
  
  Intern. Med.
  
  Volume: 59 Issue: 2 Pages: 277-283
- DOI
  10.2169/internalmedicine.2905-19
- NAID
  130007785008
- ISSN
  0918-2918, 1349-7235
- Year and Date
  2020-01-15
- Language
  English
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K08093, KAKENHI-PROJECT-18H02742
[Journal Article] Clinical features of inherited neuropathy with BSCL2 mutations in Japan.2020
- Author(s)
  Ishihara S, Okamoto Y, Tanabe H, Yoshimura A, Higuchi Y, Yuan JH, Hashiguchi A, Ishiura H, Mitsui J, Suwazono S, Oya Y, Sasaki M, Nakagawa M, Tsuji S, Ohya Y, Takashima H
- Journal Title
  
  J Peripher Nerv Syst
  
  Volume: - Issue: 2 Pages: 000-001
- DOI
  10.1111/jns.12369
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18H02742, KAKENHI-PROJECT-20K16604
[Journal Article] Genetic and phenotypic profile of 112 patients with X-linked Charcot-Marie-Tooth disease type 12018
- Author(s)
  Yuan J.-H.、Sakiyama Y.、Hashiguchi A.、Ando M.、Okamoto Y.、Yoshimura A.、Higuchi Y.、Takashima H.
- Journal Title
  
  European Journal of Neurology
  
  Volume: 25 Issue: 12 Pages: 1454-1461
- DOI
  10.1111/ene.13750
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18H02742
[Journal Article] Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan2018
- Author(s)
  Yoshimura Akiko、Yuan Jun-Hui、Hashiguchi Akihiro、Ando Masahiro、Higuchi Yujiro、Nakamura Tomonori、Okamoto Yuji、Nakagawa Masanori、Takashima Hiroshi
- Journal Title
  
  Journal of Neurology, Neurosurgery & Psychiatry
  
  Volume: 90 Issue: 2 Pages: 195-202
- DOI
  10.1136/jnnp-2018-318839
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18H02742
[Journal Article] WNK1/HSN2 Founder Mutation in Patients with Hereditary Sensory and Autonomic Neuropathy: a Japanese cohort study.2017
- Author(s)
  Yuan JH, Hashiguchi A, Yoshimura A, Sakai N, Takahashi MP, Ueda T, Taniguchi A, Okamoto S, Kanazawa N7, Yamamoto Y, Saigoh K, Kusunoki S, Ando M, Hiramatsu Y, Okamoto Y, Takashima H.
- Journal Title
  
  Clin Genet.
  
  Volume: － Issue: 6 Pages: 659-663
- DOI
  10.1111/cge.13037
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-26461275, KAKENHI-PROJECT-15K09780
[Journal Article] Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.2017
- Author(s)
  Yoshimura A, Yuan JH, Hashiguchi A, Hiramatsu Y, Ando M, Higuchi Y, Nakamura T, Okamoto Y, Matsumura K, Hamano T, Sawaura N, Shimatani Y, Kumada S, Okumura Y, Miyahara J, Yamaguchi Y, Kitamura S, Haginoya K, Mitsui J, Ishiura H, Tsuji S, Takashima H.
- Journal Title
  
  Clin Genet.
  
  Volume: － Issue: 3 Pages: 274-280
- DOI
  10.1111/cge.13002
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-26461275
[Journal Article] Clinical diversity caused by novel IGHMBP2 variants.2017
- Author(s)
  Yuan JH, Hashiguchi A, Yoshimura A, Yaguchi H, Tsuzaki K, Ikeda A, Wada-Isoe K, Ando M, Nakamura T, Higuchi Y, Hiramatsu Y, Okamoto Y, Takashima H.
- Journal Title
  
  J Hum Genet.
  
  Volume: － Issue: 6 Pages: 599-604
- DOI
  10.1038/jhg.2017.15
- NAID
  40021195533
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-26461275
[Journal Article] Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.2016
- Author(s)
  Higuchi Y, Hashiguchi A, Yuan J, Yoshimura A, Mitsui J, Ishiura H, Tanaka M, Ishihara S, Tanabe H, Nozuma S, Okamoto Y, Matsuura E, Ohkubo R, Tsuji S, Takashima .
- Journal Title
  
  Ann Neurol.
  
  Volume: Epub Issue: 4 Pages: 659-672
- DOI
  10.1002/ana.24612
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-26461275, KAKENHI-PROJECT-15H05293
[Journal Article] Charcot-Marie-Tooth病の遺伝子診断の進歩と治療法の開発2015
- Author(s)
  岡本　裕嗣
- Journal Title
  
  Peripheral Nerve
  
  Volume: 26 (2) Pages: 226-231
- Data Source
  KAKENHI-PROJECT-26461275
[Journal Article] 遺伝性ニューロパチーの治療とその分子メカニズム2014
- Author(s)
  岡本裕嗣
- Journal Title
  
  Periferal Nerve
  
  Volume: 25 Pages: 207-213
- Data Source
  KAKENHI-PROJECT-26461275
[Journal Article] Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signs.2014
- Author(s)
  Hashiguchi A, Higuchi Y, Nomura M, Nakamura T, Arata H, Yuan J, Yoshimura A, Okamoto Y, Matsuura E, Takashima H.
- Journal Title
  
  J Peripher Nerv Syst.
  
  Volume: 19 Issue: 4 Pages: 311-316
- DOI
  10.1111/jns.12102
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-26461275
[Presentation] Analysis of mitochondria-related neuropathy from clinically suspected Charcot-Marie-Tooth patients and mitochondrial diseases.2023
- Author(s)
  Yuji Okamoto, Yu Hiramatsu, Masahiro Ando, Jun-hui Yuan, Akiko Yoshimura , Yujiro Higuchi, Akihiro Hashiguchi, Hiroshi Takashima.
- Organizer
  2023 PNS Annual Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K06966
[Presentation] ミトコンドリアニューロパチー2023
- Author(s)
  岡本裕嗣
- Organizer
  第21回日本ミトコンドリア学会年会.
- Data Source
  KAKENHI-PROJECT-23K06966
[Presentation] ニューロパチーの遺伝学最新の知見（シンポジウム日本初　遺伝性神経筋疾患　最新の発見）2020
- Author(s)
  樋口雄二郎，橋口昭大，岡本裕嗣，髙嶋　博
- Organizer
  第61回日本神経学会学術総会
- Data Source
  KAKENHI-PROJECT-18H02742
[Presentation] 次世代シークエンサーを用いたミトコンドリア病の原因遺伝子の同定2016
- Author(s)
  岡本裕嗣, 平松　有, 吉村明子, 袁軍輝，安藤匡宏, 樋口雄二郎, 橋口昭大, 石浦浩之, 三井純, 辻　省次, 髙嶋　博
- Organizer
  日本神経学会学術集会
- Place of Presentation
  神戸国際会議場（兵庫県,神戸市）
- Year and Date
  2016-05-18
- Data Source
  KAKENHI-PROJECT-26461275
[Presentation] Next-generation sequencing analysis for mitochondrial disorders in adult Japanese patients.2016
- Author(s)
  Y. Okamoto; J. Yuan; A. Yoshimra; Y. Hiramatsu; M. Ando; A. Hashiguchi; H. Takashima
- Organizer
  ASHG2016
- Place of Presentation
  Vancouver (Canada)
- Year and Date
  2016-10-18
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461275
[Presentation] Charcot-Marie-Tooth diseaseにおけるミトコンドリア関連遺伝子の検討2016
- Author(s)
  平松　有, 岡本裕嗣,吉村明子, 安藤匡宏, 袁軍輝，橋口昭大,樋口雄二郎, 辻　省次, 髙嶋　博
- Organizer
  日本末梢神経学会学術集会
- Place of Presentation
  大阪国際会議場 (大阪府,大阪市）
- Year and Date
  2016-08-26
- Data Source
  KAKENHI-PROJECT-26461275
[Presentation] シャルコー・マリー・トゥース病の診療のポイント2016
- Author(s)
  岡本裕嗣
- Organizer
  日本神経学会学術集会
- Place of Presentation
  神戸国際会議場（兵庫県,神戸市）
- Year and Date
  2016-05-18
- Invited
- Data Source
  KAKENHI-PROJECT-26461275
[Presentation] Charcot-Marie-Tooth病の遺伝子診断の進歩と治療法の開発2015
- Author(s)
  岡本裕嗣
- Organizer
  第26回日本末梢神経学会学術集会
- Place of Presentation
  ホテルブエナビスタ (長野県松本市）
- Year and Date
  2015-09-18
- Data Source
  KAKENHI-PROJECT-26461275
[Presentation] 遺伝性ニューロパチーの治療とその分子メカニズム2014
- Author(s)
  岡本裕嗣
- Organizer
  第25回　日本末梢神経学会学術集会
- Place of Presentation
  京都　ホテルルビノ京都堀川
- Year and Date
  2014-08-29
- Data Source
  KAKENHI-PROJECT-26461275

1. Takashima Hiroshi (80372803)

# of Collaborated Projects: 2 results

# of Collaborated Products: 12 results
2. 中川正法 (50198040)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
3. 神宮司メグミ (70418862)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
4. 中條正豊 (00594631)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
5. 吉浦敬 (40322747)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
6. 中條正典 (60727171)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
7. 谷淳至 (70788166)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
8. 橋口昭大 (70760560)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
9. 樋口雄二郎

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
10. 吉村明子

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results

OKAMOTO Yuji 岡本 裕嗣

Okamoto Yuji 岡本 裕嗣

Research Projects

Research Products

Co-Researchers

Identification of mitochondrial disease as a cause of leukoencephalopathy and dementia and search for novel biomarkers.Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Mitochondrial Disease as a Cause of Leukoencephalopathy and Dementia: A Search for the Causal Genes of Mitochondrial DiseasePrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Elucidation of pathology by molecular genetic approach in Charcot-Marie-Tooth disease

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

99mTc-MIBIイメージングによるミトコンドリア病の全身骨格筋評価法の開発

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Analysis of molecular pathology of Charcot-Marie-Tooth disease and search for therapeutic drugsPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review2024

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan2021

Author(s)

Journal Title

DOI

Data Source

[Journal Article] A Case of Mitochondrial Diabetes Mellitus Diagnosed by Development of Cognitive Decline2020

Author(s)

Journal Title

DOI

NAID

ISSN

Year and Date

Language

Data Source

[Journal Article] The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins2020

Author(s)

Journal Title

DOI

NAID

ISSN

Year and Date

Language

Data Source

[Journal Article] Clinical features of inherited neuropathy with BSCL2 mutations in Japan.2020

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Genetic and phenotypic profile of 112 patients with X-linked Charcot-Marie-Tooth disease type 12018

Author(s)

OKAMOTO Yuji 岡本裕嗣

Okamoto Yuji 岡本裕嗣

[Presentation] ニューロパチーの遺伝学最新の知見（シンポジウム日本初　遺伝性神経筋疾患　最新の発見）2020