HIGUCHI Yujiro 樋口雄二郎

… Alternative Names

Yujiro Higuchi 樋口雄二郎

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Researcher Number	10867724
Affiliation (Current)	2025: 鹿児島大学, 医歯学域医学系, 講師
Affiliation (based on the past Project Information) *help	2023: 鹿児島大学, 医歯学域医学系, 講師 2020 – 2023: 鹿児島大学, 医歯学域鹿児島大学病院, 助教
Review Section/Research Field	Principal Investigator Basic Section 52020:Neurology-related Except Principal Investigator Basic Section 52020:Neurology-related
Keywords	Principal Investigator 新規原因遺伝子 / エクソーム解析 / COA7 / SCD / 臨床疫学 / CANVAS / FXTAS / 小脳失調 / FGF14 / 脊髄小脳変性症 … More / Charcot-Marie- Tooth病 / ネプリライシン / MME / 遺伝性ニューロパチー / Charcot-Marie-Tooth病 / シャルコー・マリー・トゥース病 … 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

Clinical epidemiology and identification of novel causative genes for spinocerebellar degenerationPrincipal Investigator
- Principal Investigator
  
  樋口雄二郎
- Project Period (FY)
  2022 – 2024
- 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
Elucidation of the pathological mechanism of hereditary neuropathy based on novel causative genes discovered in JapanPrincipal Investigator
- Principal Investigator
  
  Yujiro Higuchi
- Project Period (FY)
  2020 – 2021
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 52020:Neurology-related
- Research Institution
  Kagoshima University

All 2024 2023 2022 2021 2020

All Journal Article Presentation

[Journal Article] Spatial Fluctuation of Central Nervous System Lesions in X-linked Charcot-Marie-Tooth Disease with a Novel GJB1 Mutation2024
- Author(s)
 Yoshimoto Yukiyo、Yoshimoto Shoko、Kakiuchi Kensuke、Miyagawa Rumina、Ota Shin、Hosokawa Takafumi、Ishida Shimon、Higuchi Yujiro、Hashiguchi Akihiro、Takashima Hiroshi、Arawaka Shigeki
- Journal Title
 
 Intern. Med.
 
 Volume: 63 Issue: 4 Pages: 571-576
- DOI
 10.2169/internalmedicine.1713-23
- ISSN
 0918-2918, 1349-7235
- Year and Date
 2024-02-15
- Language
 English
- Peer Reviewed / Open Access
- Data Source
 KAKENHI-PROJECT-21H02842
[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] A case of Charcot–Marie–Tooth disease type 2 caused by homozygous MME gene mutation2023
- Author(s)
 Yamashiro Masataka、Ohnari Keiko、Higuchi Yujiro、Hashiguchi Hiroaki、Takashima Hiroshi、Okada Kazumasa
- Journal Title
 
 Rinsho Shinkeigaku
 
 Volume: 63 Issue: 11 Pages: 743-747
- DOI
 10.5692/clinicalneurol.cn-001870
- ISSN
 0009-918X, 1882-0654
- Language
 Japanese
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-21H02842
[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>SCN9A</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] Case report: Mitochondrial trifunctional protein deficiency caused by HADHB gene mutation (c.1175C>T) characterized by higher brain dysfunction followed by neuropathy, presented gadolinium enhancement on brain imaging in an adult patient2023
- Author(s)
  Ishikawa Ruoyi、Nakamori Masahiro、Takenaka Megumi、Aoki Shiro、Yamazaki Yu、Hashiguchi Akihiro、Takashima Hiroshi、Maruyama Hirofumi
- Journal Title
  
  Frontiers in Neurology
  
  Volume: 14
- DOI
  10.3389/fneur.2023.1187822
- Peer Reviewed / Open Access
- Data Source
  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] Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects2023
- Author(s)
 Nozaki Ichiro、Hashiguchi Akihiro、Takashima Hiroshi、Yamashita Yoko、Higashide Tomomi、Iwasa Kazuo、Ono Kenjiro
- Journal Title
 
 Intern. Med.
 
 Volume: 62 Issue: 20 Pages: 3033-3036
- DOI
 10.2169/internalmedicine.1403-22
- ISSN
 0918-2918, 1349-7235
- Year and Date
 2023-10-15
- Language
 English
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-21H02842
[Journal Article] Genetic research of inherited peripheral neuropathies2023
- Author(s)
  Higuchi Yujiro
- Journal Title
  
  Neurology and Clinical Neuroscience
  
  Volume: - Issue: 3 Pages: 159-166
- DOI
  10.1111/ncn3.12770
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K07519
[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] A case of myofibrillary myopathy due to Bcl2-Associated Athanogene 3 (BAG3) mutation complicated by peripheral neuropathy2023
- Author(s)
 Nagatomo Risa、Higuchi Yujiro、Takei Jun、Nakamura Tomonori、Hashiguchi Hiroaki、Takashima Hiroshi
- Journal Title
 
 Rinsho Shinkeigaku
 
 Volume: 63 Issue: 12 Pages: 836-842
- DOI
 10.5692/clinicalneurol.cn-001915
- ISSN
 0009-918X, 1882-0654
- Language
 Japanese
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-21H02842
[Journal Article] Review/Advances in Neurological Therapeutics (2022). Spinocerebellar degeneration2023
- Author(s)
  樋口雄二郎、髙嶋博
- Journal Title
  
  Neurological Therapeutics
  
  Volume: 40 Issue: 5 Pages: 707-711
- DOI
  10.15082/jsnt.40.5_707
- NAID
  130007649854
- ISSN
  0916-8443, 2189-7824
- Language
  Japanese
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22K07519
[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] An MFN2-related Charcot-Marie-Tooth Disease Patient with Optic Nerve Atrophy, Neurogenic Bladder Dysfunction, and Diaphragmatic Weakness2022
- Author(s)
  Kimura Yasuyoshi、Nishikawa Akira、Hashiguchi Akihiro、Etoh Masaki、Yoshimura Akiko、Asai Kanako、Miyashita Noriko、Takashima Hiroshi、Sumi Hisae、Naka Takashi
- Journal Title
  
  Intern. Med.
  
  Volume: 61 Issue: 11 Pages: 1743-1747
- DOI
  10.2169/internalmedicine.6487-20
- NAID
  130008119239
- ISSN
  0918-2918, 1349-7235
- Year and Date
  2022-06-01
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21H02842
[Journal Article] A Novel PRPS1 Mutation in a Japanese Patient with CMTX52022
- Author(s)
  Shirakawa Shunichi、Murakami Tatufumi、Hashiguchi Akihiro、Takashima Hiroshi、Hasegawa Hiroshi、Ichida Kimiyoshi、Sunada Yoshihide
- Journal Title
  
  Intern. Med.
  
  Volume: 61 Issue: 11 Pages: 1749-1751
- DOI
  10.2169/internalmedicine.8029-21
- NAID
  130008119253
- ISSN
  0918-2918, 1349-7235
- Year and Date
  2022-06-01
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21H02842, KAKENHI-PROJECT-20K07188
[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] A case of sporadic amyotrophic lateral sclerosis (ALS) with Senataxin (SETX) gene variant2022
- Author(s)
 Beppu Shohei、Ikenaka Kensuke、Hashiguchi Akihiro、Takashima Hiroshi、Mochizuki Hideki et al.
- Journal Title
 
 Rinsho Shinkeigaku
 
 Volume: 62 Issue: 3 Pages: 205-210
- DOI
 10.5692/clinicalneurol.cn-001675
- NAID
 130008163871
- ISSN
 0009-918X, 1882-0654
- Language
 Japanese
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-21H02842
[Journal Article] 遺伝性ニューロパチーの遺伝子診断2022
- Author(s)
  樋口雄二郎、髙嶋　博
- Journal Title
  
  医学のあゆみ
  
  Volume: 283(10) Pages: 1038-1045
- Data Source
  KAKENHI-PROJECT-22K07519
[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] Clinical genetics of Charcot-Marie-Tooth disease2022
- Author(s)
  Yujiro Higuchi and Hiroshi Takashima
- Journal Title
  
  Journal of Human Genetics
  
  Volume: - Issue: 3 Pages: 199-214
- DOI
  10.1038/s10038-022-01031-2
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K16604, KAKENHI-PROJECT-22K07519, KAKENHI-PROJECT-21H02842
[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] 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
[Journal Article] Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening2021
- Author(s)
 Aoki Sho、Nagashima Kazuaki、Shibata Makoto、Kasahara Hiroo、Fujita Yukio、Hashiguchi Akihiro、Takashima Hiroshi、Ikeda Yoshio
- Journal Title
 
 Intern. Med.
 
 Volume: 60 Issue: 24 Pages: 3975-3981
- DOI
 10.2169/internalmedicine.7247-21
- NAID
 130008129487
- ISSN
 0918-2918, 1349-7235
- Year and Date
 2021-12-15
- Language
 English
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-19K07813, KAKENHI-PROJECT-21H02842
[Journal Article] GARS変異による遺伝性末梢神経障害7例の臨床的特徴2020
- Author(s)
  橋口昭大、吉村明子、安藤匡宏、樋口雄二郎、中村友規、岡本裕嗣、松浦英治、髙嶋博
- Journal Title
  
  末梢神経
  
  Volume: 31 Pages: 98-104
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K16604
[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
[Presentation] 遺伝性ニューロパチーの遺伝学的研究2023
- Author(s)
  樋口雄二郎
- Organizer
  第64回日本神経学会学術大会
- Invited
- Data Source
  KAKENHI-PROJECT-22K07519
[Presentation] 本邦の小脳失調症患者における脆弱X随伴振戦/失調症候群(FXTAS)の臨床疫学2022
- Author(s)
  樋口雄二郎
- Organizer
  第63回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-22K07519
[Presentation] MME(ネプリライシン)遺伝子異常による常染色体劣性遺伝型CMTの臨床・遺伝学的検討2021
- Author(s)
  樋口雄二郎
- Organizer
  第32回日本末梢神経学会
- Data Source
  KAKENHI-PROJECT-20K16604
[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
- Organizer
  第61回日本神経学会学術大会
- Invited
- Data Source
  KAKENHI-PROJECT-20K16604

1. Takashima Hiroshi (80372803)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
2. 安藤匡宏 (60896976)

# of Collaborated Projects: 1 results

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

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
4. SHIMIZU Fumitaka

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
5. 吉村明子

# of Collaborated Projects: 0 results

# of Collaborated Products: 4 results
6. 袁軍輝

# of Collaborated Projects: 0 results

# of Collaborated Products: 5 results
7. 岡本裕嗣

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

HIGUCHI Yujiro 樋口 雄二郎

Yujiro Higuchi 樋口 雄二郎

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Clinical epidemiology and identification of novel causative genes for spinocerebellar degenerationPrincipal Investigator

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

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Elucidation of the pathological mechanism of hereditary neuropathy based on novel causative genes discovered in JapanPrincipal Investigator

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[Journal Article] Spatial Fluctuation of Central Nervous System Lesions in X-linked Charcot-Marie-Tooth Disease with a Novel <i>GJB1</i> Mutation2024

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

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[Journal Article] A case of Charcot–Marie–Tooth disease type 2 caused by homozygous <i>MME</i> gene mutation2023

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

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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] Case report: Mitochondrial trifunctional protein deficiency caused by HADHB gene mutation (c.1175C>T) characterized by higher brain dysfunction followed by neuropathy, presented gadolinium enhancement on brain imaging in an adult patient2023

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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] Charcot-Marie-Tooth Disease with a Novel Variant in <i>Gap Junction Protein Beta 1</i> Presenting with Visual Field Defects2023

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[Journal Article] Genetic research of inherited peripheral neuropathies2023

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

Author(s)

HIGUCHI Yujiro 樋口雄二郎

Yujiro Higuchi 樋口雄二郎