YOSHIMURA Akiko 吉村明子

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吉村明子ヨシムラアキコ

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Researcher Number	00934407
Affiliation (Current)	2025: 鹿児島大学, 医歯学総合研究科, 特任研究員
Affiliation (based on the past Project Information) *help	2022 – 2023: 鹿児島大学, 医歯学総合研究科, 特任研究員
Review Section/Research Field	Principal Investigator Basic Section 52020:Neurology-related
Keywords	Principal Investigator Charcot-Marie-Tooth 病 / ターゲットパネル解析 / 次世代シークエンサー / ターゲットパネル / 網羅的遺伝子解析 / 遺伝性ニューロパチー

遺伝性ニューロパチーの新規ターゲットパネル解析システムの構築Principal Investigator
- Principal Investigator
  
  吉村明子
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 52020:Neurology-related
- Research Institution
  Kagoshima University

All 2024 2023 2022

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] Microbleed clustering in thalamus sign in CADASIL patients with NOTCH3 R75P mutation2023
- Author(s)
  Takei Jun、Higuchi Yujiro、Ando Masahiro、Yoshimura Akiko、Yuan Jun-Hui、Fujisaki Natsumi、Tokashiki Takashi、Kanzato Naomi、Jonosono Manabu、Sueyoshi Takeshi、Kanda Naoaki、Matsuoka Hideki、Okubo Ryuichi、Suehara Masahito、Matsuura Eiji、Takashima Hiroshi
- Journal Title
  
  Frontiers in Neurology
  
  Volume: 14
- DOI
  10.3389/fneur.2023.1241678
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K15713, KAKENHI-PROJECT-22K07495
[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] 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] Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study2022
- Author(s)
  Yuan Jun-Hui、Higuchi Yujiro、Hashiguchi Akihiro、Ando Masahiro、Yoshimura Akiko、Nakamura Tomonori、Sakiyama Yusuke、Takashima Hiroshi
- Journal Title
  
  Journal of Neurology
  
  Volume: 269 Issue: 12 Pages: 6406-6415
- DOI
  10.1007/s00415-022-11305-6
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22K07495, 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
[Presentation] 日本における遺伝性ニューロパチーの包括的遺伝子解析2023
- Author(s)
  吉村明子
- Organizer
  第64回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-22K15713
[Presentation] Genetic Features of Inherited Peripheral Neuropathy in a Japanese Cohort2023
- Author(s)
  吉村明子
- Organizer
  2023 Peripheral Nerve Society Annual Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K15713
[Presentation] 日本におけるCharcot-Marie-Tooth病の包括的遺伝子解析と遺伝学的特徴2023
- Author(s)
  吉村明子
- Organizer
  第34回日本末梢神経学会学術集会
- Data Source
  KAKENHI-PROJECT-22K15713
[Presentation] 日本におけるCharcot-Marie-Tooth病の包括的遺伝子解析及び遺伝学的特徴2022
- Author(s)
  吉村明子
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-22K15713

1. SHIMIZU Fumitaka

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
2. 樋口雄二郎

# of Collaborated Projects: 0 results

# of Collaborated Products: 3 results
3. 袁軍輝

# of Collaborated Projects: 0 results

# of Collaborated Products: 6 results

YOSHIMURA Akiko 吉村 明子

吉村 明子 ヨシムラ アキコ

Research Projects

Research Products

Co-Researchers

遺伝性ニューロパチーの新規ターゲットパネル解析システムの構築Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

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] Microbleed clustering in thalamus sign in CADASIL patients with NOTCH3 R75P mutation2023

Author(s)

Journal Title

DOI

Data Source

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

Author(s)

Journal Title

DOI

Data Source

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

Author(s)

Journal Title

DOI

Data Source

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

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] Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease.2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families2022

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 and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible2022

Author(s)

Journal Title

DOI

YOSHIMURA Akiko 吉村明子

吉村明子ヨシムラアキコ