ANDO Masahiro 安藤匡宏

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Ando Masahiro 安藤匡宏

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Researcher Number	60896976
Other IDs	https://orcid.org/0000-0002-6187-9042
Affiliation (Current)	2026: 鹿児島大学, 医歯学域鹿児島大学病院, 講師
Affiliation (based on the past Project Information) *help	2026: 鹿児島大学, 医歯学域鹿児島大学病院, 助教 2024: 鹿児島大学, 医歯学域鹿児島大学病院, 助教 2022 – 2023: 鹿児島大学, 鹿児島大学病院, 特任助教 2021: 鹿児島大学, 鹿児島大学病院, 医員
Review Section/Research Field	Principal Investigator Basic Section 52020:Neurology-related Except Principal Investigator Basic Section 52020:Neurology-related
Keywords	Principal Investigator novel repeat expansion / novel gene / short read/long read / NGS / CMT / リピート異常伸長 / ロングリードシークエンサー / リピート伸長異常 / 遺伝子解析 / 遺伝性ニューロパチー … More / Bioinformatics / エクソーム解析 / 解析パイプライン / R言語 / 脊髄小脳変性症 / Charcot-Marie-Tooth / 次世代シークエンサー … More Except Principal Investigator RFC1遺伝子 / 末梢神経 / 遺伝子診断 / ゲノム解析 / 遺伝性ニューロパチー / Charcot-Marie-Tooth病 / NOTCH2NLC / RFC1 / リピート伸長 / Charcot-Marie-Tooth Less

遺伝性末梢神経障害における新規病因解明と治療戦略の構築Principal Investigator
- Principal Investigator
  
  安藤匡宏
- Project Period (FY)
  2026 – 2028
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52020:Neurology-related
- Research Institution
  Kagoshima University
Molecular Epidemiology of Hereditary Neuropathies: Search for Novel castive Genes and Repeat expansionPrincipal Investigator
- Principal Investigator
  
  安藤匡宏
- 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
Molecular genetic research with a view to treating Charcot-Marie-Tooth disease
- Principal Investigator
  
  Takashima Hiroshi
- Project Period (FY)
  2021 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52020:Neurology-related
- Research Institution
  Kagoshima University
Development of a comprehensive analysis pipeline for next-generation sequencers using the RPrincipal Investigator
- Principal Investigator
  
  Ando Masahiro
- Project Period (FY)
  2021 – 2022
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 52020:Neurology-related
- Research Institution
  Kagoshima University

All 2025 2024 2023 2022 2021

All Journal Article Presentation

[Journal Article] SOD1-related inherited peripheral neuropathies in a Japanese cohort: genetic variants and clinical insights2025
- Author(s)
  Ando Masahiro,Higuchi Yujiro,Yuan Jun-Hui,Yoshimura Akiko,Yano Chikashi,Hobara Takahiro,Kojima Fumikazu,Hiramatsu Yu,Nozuma Satoshi,Nakamura Tomonori,Sakiyama Yusuke,Hashiguchi Akihiro,Okamoto Yuji,Matsushige Takeshi,Mitsui Jun,Tsuji Shoji,Takashima Hiroshi
- Journal Title
  
  Journal of Neurology
  
  Volume: 272 Issue: 3 Pages: 191-191
- DOI
  10.1007/s00415-025-12925-4
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K07495, KAKENHI-PROJECT-22K15713, KAKENHI-PROJECT-22K07519, KAKENHI-PROJECT-23K06931, KAKENHI-PROJECT-23K06966, KAKENHI-PROJECT-24K18708
[Journal Article] Linking LRP12 CGG repeat expansion to inherited peripheral neuropathy2024
- Author(s)
  Hobara Takahiro,Ando Masahiro,Higuchi Yujiro,Yuan Jun-Hui,Yoshimura Akiko,Kojima Fumikazu,Noguchi Yutaka,Takei Jun,Hiramatsu Yu,Nozuma Satoshi,Nakamura Tomonori,Adachi Tadashi,Toyooka Keiko,Yamashita Toru,Sakiyama Yusuke,Hashiguchi Akihiro,Matsuura Eiji,Okamoto Yuji,Takashima Hiroshi
- Journal Title
  
  Journal of Neurology, Neurosurgery & Psychiatry
  
  Volume: 96 Issue: 2 Pages: 140-149
- DOI
  10.1136/jnnp-2024-333403
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K07495, KAKENHI-PROJECT-22K15713, KAKENHI-PROJECT-22K07519, KAKENHI-PROJECT-23K06931, KAKENHI-PROJECT-24K18708
[Journal Article] Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications2024
- Author(s)
  Hobara Takahiro,Higuchi Yujiro,Yoshida Mari,Suehara Masahito,Ando Masahiro,Yuan Jun-Hui,Yoshimura Akiko,Kojima Fumikazu,Matsuura Eiji,Okamoto Yuji,Mitsui Jun,Tsuji Shoji,Takashima Hiroshi
- Journal Title
  
  Acta Neuropathologica Communications
  
  Volume: 12 Issue: 1 Pages: 136-136
- DOI
  10.1186/s40478-024-01847-3
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K07495, KAKENHI-PROJECT-22K15713, KAKENHI-PROJECT-22K07519, KAKENHI-PROJECT-23K06931
[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-22K07495, KAKENHI-PROJECT-22K07519, KAKENHI-PROJECT-23K06966, KAKENHI-PROJECT-22K15713, KAKENHI-PROJECT-23K06931
[Journal Article] Involvement of autonomic nervous system since middle age in elderly patient with giant axonal neuropathy caused by novel genetic mutation2023
- Author(s)
  Imoto Makiko、Nakamura Kota、Inoue Kimiko、Ando Masahiro、Higuchi Yujiro、Takashima Hiroshi、Okuda Shiho
- Journal Title
  
  Rinsho Shinkeigaku
  
  Volume: 63 Issue: 9 Pages: 566-571
- DOI
  10.5692/clinicalneurol.cn-001822
- ISSN
  0009-918X, 1882-0654
- Language
  Japanese
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21H02842
[Journal Article] Genetic, electrophysiological, and pathological studies on patients with <scp><i>SCN9A</i></scp>‐related pain disorders2023
- Author(s)
  Yuan Jun‐Hui、Cheng Xiaoyang、Matsuura Eiji、Higuchi Yujiro、Ando Masahiro、Hashiguchi Akihiro、Yoshimura Akiko、Nakachi Ryo、Mine Jun、Taketani Takeshi、Maeda Kenichi、Kawakami Saori、Kira Ryutaro、Tanaka Shoko、Kanai Kazuaki、Dib‐Hajj Fadia、Dib‐Hajj Sulayman D.、Waxman Stephen G.、Takashima Hiroshi
- Journal Title
  
  Journal of the Peripheral Nervous System
  
  Volume: 28 Issue: 4 Pages: 597-607
- DOI
  10.1111/jns.12590
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K15713, KAKENHI-PROJECT-22K07495, KAKENHI-PROJECT-23K06931, KAKENHI-PROJECT-21H02842
[Journal Article] Clinical phenotypic diversity of NOTCH2NLC-related disease in the largest case series of inherited peripheral neuropathy in Japan2023
- Author(s)
  Ando Masahiro、Higuchi Yujiro、Yuan Jun-Hui、Yoshimura Akiko、Dozono Mika、Hobara Takahiro、Kojima Fumikazu、Noguchi Yutaka、Takeuchi Mika、Takei Jun、Hiramatsu Yu、Nozuma Satoshi、Nakamura Tomonori、Sakiyama Yusuke、Hashiguchi Akihiro、Matsuura Eiji、Okamoto Yuji、Sone Jun、Takashima Hiroshi
- Journal Title
  
  Journal of Neurology, Neurosurgery and Psychiatry
  
  Volume: - Issue: 8 Pages: 622-630
- DOI
  10.1136/jnnp-2022-330769
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K07495, KAKENHI-PROJECT-22K15713, KAKENHI-PROJECT-22K07519, KAKENHI-PROJECT-23K06931, KAKENHI-PROJECT-21H02842
[Journal Article] Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan2023
- Author(s)
  Ando Masahiro、Higuchi Yujiro、Yuan Junhui、Yoshimura Akiko、Kojima Fumikazu、Yamanishi Yuki、Aso Yasuhiro、Izumi Kotaro、Imada Minako、Maki Yoshimitsu、Nakagawa Hiroto、Hobara Takahiro、Noguchi Yutaka、Takei Jun、Hiramatsu Yu、Nozuma Satoshi、Sakiyama Yusuke、Hashiguchi Akihiro
- Journal Title
  
  Annals of Clinical and Translational Neurology
  
  Volume: 11 Issue: 1 Pages: 96-104
- DOI
  10.1002/acn3.51936
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K15713, KAKENHI-PROJECT-22K07495, KAKENHI-PROJECT-22K07519, KAKENHI-PROJECT-23K06931
[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] CANVAS-related RFC1 mutations in patients with immune-mediated neuropathy2023
- Author(s)
  Hirano Makito、Kuwahara Motoi、Yamagishi Yuko、Samukawa Makoto、Fujii Kanako、Yamashita Shoko、Ando Masahiro、Oka Nobuyuki、Nagano Mamoru、Matsui Taro、Takeuchi Toshihide、Saigoh Kazumasa、Kusunoki Susumu、Takashima Hiroshi、Nagai Yoshitaka
- Journal Title
  
  Scientific Reports
  
  Volume: 13 Issue: 1 Pages: 17801-17801
- DOI
  10.1038/s41598-023-45011-8
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K07510, KAKENHI-PROJECT-21H02842, KAKENHI-PLANNED-20H05927, KAKENHI-PROJECT-23H00459, KAKENHI-PROJECT-23K24054
[Journal Article] The first case of infantile-onset multisystem neurologic, endocrine, and pancreatic disease caused by novel PTRH2 mutation in Japan2022
- Author(s)
  Ando Masahiro、Higuchi Yujiro、Takeuchi Mika、Hashiguchi Akihiro、Takashima Hiroshi
- Journal Title
  
  Neurological Sciences
  
  Volume: 43 Issue: 3 Pages: 2133-2136
- DOI
  10.1007/s10072-021-05817-8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K16604, KAKENHI-PROJECT-21H02842, KAKENHI-PROJECT-21K15702, KAKENHI-PROJECT-22K07519
[Journal Article] Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments2022
- Author(s)
  Taniguchi Takaki、Ando Masahiro、Okamoto Yuji、Yoshimura Akiko、Higuchi Yujiro、Hashiguchi Akihiro、Matsuda Nozomu、Yamamoto Mamoru、Dohi Eisuke、Takahashi Makoto、Yoshino Masanao、Nomura Taichi、Matsushima Masaaki、Yabe Ichiro、Sanpei Yui、Ishiura Hiroyuki、Mitsui Jun、Nakagawa Masanori、Tsuji Shoji、Takashima Hiroshi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: - Issue: 6 Pages: 353-362
- DOI
  10.1038/s10038-021-01005-w
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K16604, KAKENHI-PROJECT-21H02842, KAKENHI-PROJECT-21K15702, KAKENHI-PROJECT-22K15713
[Journal Article] Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease.2022
- Author(s)
  Ando Masahiro、Higuchi Yujiro、Yuan Junhui、Yoshimura Akiko、Taniguchi Takaki、Takei Jun、Takeuchi Mika、Hiramatsu Yu、Shimizu Fumitaka、Kubota Masaya、Takeshima Akari、et al.
- Journal Title
  
  Annals of Clinical and Translational Neurology
  
  Volume: 9 Issue: 7 Pages: 902-911
- DOI
  10.1002/acn3.51603
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K07416, KAKENHI-PROJECT-22K15713, KAKENHI-PROJECT-21H02842, KAKENHI-PROJECT-19K16910, KAKENHI-PROJECT-21K15702
[Journal Article] Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy2022
- Author(s)
  Yuan Jun-Hui、Higuchi Yujiro、Ando Masahiro、Matsuura Eiji、Hashiguchi Akihiro、Yoshimura Akiko、Nakamura Tomonori、Sakiyama Yusuke、Mitsui Jun、Ishiura Hiroyuki、Tsuji Shoji、Takashima Hiroshi
- Journal Title
  
  Frontiers in Neurology
  
  Volume: 13
- DOI
  10.3389/fneur.2022.986504
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K07495, KAKENHI-PROJECT-22K15713, KAKENHI-PROJECT-21H02842
[Journal Article] An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families2022
- Author(s)
  Ando Masahiro、Higuchi Yujiro、Okamoto Yuji、Yuan Junhui、Yoshimura Akiko、Takei Jun、Taniguchi Takaki、Hiramatsu Yu、Sakiyama Yusuke、Hashiguchi Akihiro、Matsuura Eiji、Nakagawa Hiroto、Sonoda Ken、Yamashita Toru、Tamura Akiko、Terasawa Hideo、Mitsui Jun、Ishiura Hiroyuki、Tsuji Shoji、Takashima Hiroshi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: - Issue: 7 Pages: 399-403
- DOI
  10.1038/s10038-022-01019-y
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K16604, KAKENHI-PROJECT-21H02842, KAKENHI-PROJECT-21K15702, KAKENHI-PROJECT-22K07495, KAKENHI-PROJECT-22K15713
[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 and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan2022
- Author(s)
  Ando Masahiro、Higuchi Yujiro、Yuan Junhui H.、Yoshimura Akiko、Higashi Shuntaro、Takeuchi Mika、Hobara Takahiro、Kojima Fumikazu、Noguchi Yutaka、Takei Jun、Hiramatsu Yu、Nozuma Satoshi、Sakiyama Yusuke、Hashiguchi Akihiro、Matsuura Eiji、Okamoto Yuji、Nagai Masahiro、Takashima Hiroshi
- Journal Title
  
  Frontiers in Neurology
  
  Volume: 13 Pages: 952493-952493
- DOI
  10.3389/fneur.2022.952493
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K07495, KAKENHI-PROJECT-22K07519, KAKENHI-PROJECT-22K15713, KAKENHI-PROJECT-21H02842, KAKENHI-PROJECT-21K15702
[Journal Article] Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible2022
- Author(s)
  Ando Masahiro、Higuchi Yujiro、Yuan Junhui、Yoshimura Akiko、Taniguchi Takaki、Kojima Fumikazu、Noguchi Yutaka、Hobara Takahiro、Takeuchi Mika、Takei Jun、Hiramatsu Yu、Sakiyama Yusuke、Hashiguchi Akihiro、Okamoto Yuji、Mitsui Jun、Ishiura Hiroyuki、Tsuji Shoji、Takashima Hiroshi
- Journal Title
  
  Biomedicines
  
  Volume: 10 Issue: 7 Pages: 1546-1546
- DOI
  10.3390/biomedicines10071546
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K07495, KAKENHI-PROJECT-22K15713, KAKENHI-PROJECT-21H02842, KAKENHI-PROJECT-21K15702
[Journal Article] Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan2022
- Author(s)
  Ando Masahiro、Higuchi Yujiro、Yuan Jun‐Hui、Yoshimura Akiko、Kitao Ruriko、Morimoto Takehiko、Taniguchi Takaki、Takeuchi Mika、Takei Jun、Hiramatsu Yu、Sakiyama Yusuke、Hashiguchi Akihiro、Okamoto Yuji、Mitsui Jun、Ishiura Hiroyuki、Tsuji Shoji、Takashima Hiroshi
- Journal Title
  
  Annals of Clinical and Translational Neurology
  
  Volume: 9 Issue: 5 Pages: 747-755
- DOI
  10.1002/acn3.51555
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K07495, KAKENHI-PROJECT-22K07519, KAKENHI-PROJECT-22K15713, KAKENHI-PROJECT-21H02842, KAKENHI-PROJECT-21K15702
[Journal Article] Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan2021
- Author(s)
  Higuchi Yujiro、Ando Masahiro、Yoshimura Akiko、Hakotani Satoshi、Koba Yuki、Sakiyama Yusuke、Hiramatsu Yu、Tashiro Yuichi、Maki Yoshimitsu、Hashiguchi Akihiro、Yuan Junhui、Okamoto Yuji、Matsuura Eiji、Takashima Hiroshi
- Journal Title
  
  The Cerebellum
  
  Volume: - Issue: 5 Pages: 851-860
- DOI
  10.1007/s12311-021-01323-x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K16604, KAKENHI-PROJECT-21H02842, KAKENHI-PROJECT-21K15702
[Presentation] 遺伝性ニューロパチーにおけるNOTCH2NLC遺伝子解析 -臨床的特徴とリピートモチーフ2024
- Author(s)
  安藤匡宏
- Organizer
  神経核内封入体病の実態調査および、診療ガイドライン作成に向けた調査研究
- Data Source
  KAKENHI-PROJECT-23K06931
[Presentation] 遺伝性ニューロパチー遺伝子解析の現状2024
- Author(s)
  安藤匡宏
- Organizer
  第35回日本末梢神経学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-23K06931
[Presentation] ニューロパチーからみた NOTCH2NLC/LRP12 遺伝子2024
- Author(s)
  安藤匡宏
- Organizer
  第65回日本神経学会学術大会
- Invited
- Data Source
  KAKENHI-PROJECT-23K06931
[Presentation] 南九州を中心とした小脳失調症症例における FGF14 GAAリピート解析(SCA27B)2024
- Author(s)
  安藤匡宏
- Organizer
  運動失調症の医療基盤に関する調査研究班
- Data Source
  KAKENHI-PROJECT-23K06931
[Presentation] 本邦での遺伝性ニューロパチーにおけるNOTCH2NLC遺伝子リピート異常伸長解析2023
- Author(s)
  安藤匡宏
- Organizer
  第64回日本神経学会学術総会
- Data Source
  KAKENHI-PROJECT-23K06931
[Presentation] 遺伝性ニューロパチーにおけるリピート異常伸長 -RFC1, NOTCH2NLC2023
- Author(s)
  安藤匡宏
- Organizer
  第34回日本末梢神経学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-23K06931
[Presentation] Clinical Feature of NOTCH2NLC Related Disease In Japanese Inherited Peripheral Neuropathies Cohort2023
- Author(s)
  Masahiro Ando
- Organizer
  PNS annual meeting 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K06931
[Presentation] 南九州地域を中心とした小脳性運動失調症におけるRFC1遺伝子解析2022
- Author(s)
  安藤匡宏
- Organizer
  第63回日本神経学会学術総会
- Data Source
  KAKENHI-PROJECT-21K15702
[Presentation] 南九州地域を中心とした小脳性運動失調症におけるRFC1遺伝子解析2022
- Author(s)
  安藤匡宏
- Organizer
  令和3年度運動失調班班会議
- Data Source
  KAKENHI-PROJECT-21K15702
[Presentation] Charcot-Marie-Tooth病における次世代シークエンサーを用いたcopy number variation解析2021
- Author(s)
  安藤匡宏
- Organizer
  第62回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-21K15702

1. Takashima Hiroshi (80372803)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
2. 樋口雄二郎 (10867724)

# of Collaborated Projects: 1 results

# of Collaborated Products: 5 results
3. 橋口昭大 (70760560)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
4. SHIMIZU Fumitaka

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
5. 袁軍輝

# of Collaborated Projects: 0 results

# of Collaborated Products: 9 results
6. 吉村明子

# of Collaborated Projects: 0 results

# of Collaborated Products: 3 results
7. 平野牧人

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

ANDO Masahiro 安藤 匡宏

Ando Masahiro 安藤 匡宏

Research Projects

Research Products

Co-Researchers

遺伝性末梢神経障害における新規病因解明と治療戦略の構築Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Molecular Epidemiology of Hereditary Neuropathies: Search for Novel castive Genes and Repeat expansionPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Molecular genetic research with a view to treating Charcot-Marie-Tooth disease

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Development of a comprehensive analysis pipeline for next-generation sequencers using the RPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

[Journal Article] SOD1-related inherited peripheral neuropathies in a Japanese cohort: genetic variants and clinical insights2025

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Linking LRP12 CGG repeat expansion to inherited peripheral neuropathy2024

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications2024

Author(s)

Journal Title

DOI

Data Source

[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] Involvement of autonomic nervous system since middle age in elderly patient with giant axonal neuropathy caused by novel genetic mutation2023

Author(s)

Journal Title

DOI

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[Journal Article] Genetic, electrophysiological, and pathological studies on patients with <scp><i>SCN9A</i></scp>‐related pain disorders2023

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[Journal Article] Clinical phenotypic diversity of NOTCH2NLC-related disease in the largest case series of inherited peripheral neuropathy in Japan2023

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[Journal Article] Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan2023

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

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[Journal Article] CANVAS-related RFC1 mutations in patients with immune-mediated neuropathy2023

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ANDO Masahiro 安藤匡宏

Ando Masahiro 安藤匡宏

[Presentation] 遺伝性ニューロパチー遺伝子解析の現状2024