YOSHIMURA Akiko 吉村明子

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Yoshimura Akiko 吉村明子

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Researcher Number	00934407
Other IDs
Affiliation (Current)	2026: 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	2026: 鹿児島大学, 医歯学総合研究科, 特任研究員 2022 – 2024: 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 / リピート伸長解析 / 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におけるリピート伸長異常の革新的検出法Principal Investigator
- Principal Investigator
  
  吉村明子
- 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
Construction of Novel Targeted Genetic Panel Screening System for Inherited Peripheral NeuropathiesPrincipal Investigator
- Principal Investigator
  
  Yoshimura Akiko
- 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 2025 2024 2023 2022

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] Geographic characteristics of HTLV-1 molecular subgroups and genetic substitutions in East Asia: Insights from complete genome sequencing of HTLV-1 strains isolated in Taiwan and Japan2024
- Author(s)
  Nozuma Satoshi、Yoshimura Akiko、Pai Shun-Chung、Chen Hung-Jen、Matsuura Eiji、Tanaka Masakazu、Kodama Daisuke、Dozono Mika、Matsuzaki Toshio、Takashima Hiroshi、Yang Ya-Chien、Kubota Ryuji
- Journal Title
  
  PLOS Neglected Tropical Diseases
  
  Volume: 18 Issue: 2 Pages: e0011928-e0011928
- DOI
  10.1371/journal.pntd.0011928
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K07418, KAKENHI-PROJECT-23K24380, KAKENHI-PROJECT-22K15713
[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] 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2024
- Author(s)
  吉村明子，安藤匡宏，穂原貴裕，児島史一，袁軍輝，樋口雄二郎，橋口昭大，岡本裕嗣，髙嶋博
- Organizer
  第35回日本末梢神経学会学術集会
- Data Source
  KAKENHI-PROJECT-22K15713
[Presentation] Exploring the Genetic Landscape of Inherited Hereditary Neuropathy: A Comprehensive Analysis of 3200 Cases in Japan2024
- Author(s)
  Akiko Yoshimura ，Masahiro Ando ，Takahiro Hobara，Fumikazu Kojima ，Jun-Hui Yuan ，Yu Hiramatsu，Yujiro Higuchi，Akihiro Hashiguchi，Yuji Okamoto，Hiroshi Takashima
- Organizer
  日本人類遺伝学会第69回大会
- Data Source
  KAKENHI-PROJECT-22K15713
[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. 袁軍輝

# of Collaborated Projects: 0 results

# of Collaborated Products: 10 results
3. 樋口雄二郎

# of Collaborated Projects: 0 results

# of Collaborated Products: 3 results
4. 高嶋博

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
5. 松浦英治

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

YOSHIMURA Akiko 吉村 明子

Yoshimura Akiko 吉村 明子

Research Projects

Research Products

Co-Researchers

遺伝性ニューロパチーにおけるリピート伸長異常の革新的検出法Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Construction of Novel Targeted Genetic Panel Screening System for Inherited Peripheral NeuropathiesPrincipal 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] Geographic characteristics of HTLV-1 molecular subgroups and genetic substitutions in East Asia: Insights from complete genome sequencing of HTLV-1 strains isolated in Taiwan and Japan2024

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] 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

YOSHIMURA Akiko 吉村明子

Yoshimura Akiko 吉村明子