TAKASHIMA Hiroshi 高嶋博

… Alternative Names

HIROSHI Takashima 高嶋博

Takashima Hiroshi 髙嶋博

Less

Researcher Number	80372803
Other IDs
External Links
Affiliation (Current)	2025: 鹿児島大学, 医歯学域医学系, 教授
Affiliation (based on the past Project Information) *help	2015 – 2023: 鹿児島大学, 医歯学域医学系, 教授 2015: 鹿児島大学, 医学部, 教授 2015: 鹿児島大学, 学術研究院医歯学域医学系, 教授 2014: 鹿児島大学, 医歯学総合研究科, 教授 2012 – 2014: 鹿児島大学, 医歯(薬)学総合研究科, 教授 … More 2011 – 2012: 鹿児島大学, 大学院・医歯学総合研究科, 教授 2009 – 2012: 鹿児島大学, 医歯学総合研究科, 教授 2009: Kagoshima University, 大学院・医歯学総合研究科, 教授 2008: Kagoshima University, 大学院医歯学総合研究科, 助教 2007 – 2008: Kagoshima University, Graduate School of Medical and Dental Sciences, Assistant Professor 2006: Kagoshima University, Graduate School of Medical and Dental Sciences, Research Associate, 大学院医歯学総合研究科, 助手 2004 – 2005: 鹿児島大学, 大学院・医歯学総合研究科, 助手 Less
Review Section/Research Field	Principal Investigator Neurology / Basic Section 52020:Neurology-related Except Principal Investigator Neurology / Basic Section 52020:Neurology-related
Keywords	Principal Investigator SCAN1 / 遺伝性ニューロパチー / TDP1 / ゲノム解析 / 遺伝子診断 / Charcot-Marie-Tooth病 / DNA repair / SSBR / Tdp1 / 一本鎖DNA修復 … More / ノックアウトマウス / 脊髄小脳変性症 / RFC1遺伝子 / 末梢神経 / NOTCH2NLC / RFC1 / リピート伸長 / Charcot-Marie-Tooth / 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 / シャルコー・マリー・トゥース病 / 脊髄小脳失調症 / 遺伝性ニューロパシー / inherited neuropathy / spinocerebellar degeneration / DNA修復障害 / 遺伝学 / DNAコンピュータ / 微生物 / 感染症 / 脳・神経 / 次世代シークエンサー / 脳炎 / 感染症遺伝子診断 / 古細菌 / 新規感染症 / 一本鎖DNA修 / 末梢神経障害 / マウスモデル / 神経変性 / DNA修復 / ニューロパチー … More Except Principal Investigator collagen VI / HMSN-P / 神経科学 / Bethlem myopathy / 遺伝性ニューロパチー / Ullrich病 / HSP47 / SCA4 / Puratrophin / 末梢神経 / Desert hedgehog / Ullrich's disease / laminin β1 / experimental therapy / NG2 proteoglycan / collagenopathy / Charcot-Marie-Tooth病 / 自己抗体 / イオンチャネル / 標的抗原解析 / 遺伝子診断 / 運動ニューロン病 / 脊髄小脳変性症 / 次世代シークエンサー / ベスレムミオパチー / 細胞接着 / 実験的治療 / thrombomodulin / 遺伝子 / 脳神経疾患 / 遺伝子多型 / 周期性四肢麻痺 / 超早期診断 / 発症年齢 / 疫学 / HTLV-1キャリア / 痙性脊髄麻痺 / CTL / 筋 / 病理 / 剖検脊髄 / 早期診断 / HAM / キャリア / HTLV / 診断マーカー / HTLV‐1 / T cell clone / muscle / cytotoxic T lymphocytes / epidemiology / HAM/TSP / HTLV-1 / 神経病態免疫学 / 神経内科学 / 後根神経節細胞 / 質量分析 / 不眠症 / 病態マーカー / 抗VGKC複合体抗体 / アイザックス症候群 / ニューロミオトニア / 筋けいれん / 遺伝子異常 / TFG / 運動ニューロン / 遺伝性神経疾患 / アジア・オセアニア地域 / 分子疫学 / TFG遺伝子異常 / extracellular matrix / siRNA / Bethlem mvonath / collagen XVIII / collagen XV / NG2 proteolcan / Collagen VI / Ullrich病(2)(3)(5)(6) / トロンボモジュリン / ウールリッヒ病 / mutation screening / inherited neuropathy / molecular diagnosis / genetic diagnosis / reseguencing method / DNA chip / CMT / Charcot-Marie-Tooth disease / 遺伝子検査 / multiple PCR / resequencing array / マイクロアイレ / Charcol-Marie-Tooth病 / 新規原因遺伝子発見 / リーシークエンスアレイ / マイクロアレイ / 1Gq ADCA type III / linkage analysis / spinocerebellar degeneration / 16qADCA type III / 連鎖解析 / hereditary neuropathy / Schwann cell / diabetes mellitus / peripheral nerve / うつ病 / 再生 / 遺伝性末梢神経障害 / シュワン細胞 / 糖尿病 / CD44 / tenascin C / lamininβ1 / polymorphism / voltage-gated potassium channel / muscle ion channel / prolonged exercise test / thyrotoxic periodic paralysis / Nav1.4 / パッチクランプ / 甲状腺機能亢進症 / 甲状腺中毒性周期性四肢麻痺 / 電位依存性カリウムチャネル / 遺伝子変異 / 家族性周期性四肢麻痺 / 甲状腺中毒性周期性四肢麻 / 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 / クルクミン / 新規標的抗原 / 自己免疫性脳炎 / VGKC / AMPA受容体 / LGI1 / 家族性ALS / 臨床神経分子遺伝学 / TFG遺伝子 / 分子遺伝学 / ゲノム解析 / ADLES / HMSNP / 若年性認知症 / 白質脳症 / SCA31 / HDLS / コラーゲンVI / 皮膚線維芽細胞 / Ullrich型先天性筋ジストロティー / ウルリッヒ病 / 関節拘縮 / Bethlemミオパチー / 6型コラーゲン / 第3染色体 / シャルコー・マリー・トゥース病 / 第3染色 / 酸化ストレス / シャルコー・マリー・トゥ-ス病 / 日系ブラジル人 / 国際共同研究 / 遺伝子変換 / 電気生理 / 甲状腺中毒性 / 遺伝子解析 / 国際共同 / アジア人 / 甲状腺中毒症 Less

Molecular genetic research with a view to treating Charcot-Marie-Tooth diseasePrincipal Investigator
- 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
Research contributing to the diagnosis of inflammatory pathology prior to the onset of HAM with the aim of suppressing the onset of the disease through ultra-early treatment
- Principal Investigator
  
  MATSUURA EIJI
- Project Period (FY)
  2021 – 2023
- 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 diseasePrincipal Investigator
- 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
Analysis of pathophysiology of immune-mediated ion channel disease and elucidation of novel antigens
- Principal Investigator
  
  WATANABE OSAMU
- Project Period (FY)
  2016 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  Kagoshima University
Overseas research for motor neuron disease with TFG gene mutation
- Principal Investigator
  
  Naskagawa Masanori
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Neurology
- Research Institution
  Kyoto Prefectural University of Medicine
Analysis of molecular pathology of Charcot-Marie-Tooth disease and search for therapeutic drugs
- 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
A useful approach for genetic diagnosis of infectious agents using next generation sequencingPrincipal Investigator
- Principal Investigator
  
  Hiroshi Takashima
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Neurology
- Research Institution
  Kagoshima University
analysis of newly target auto antigens in autoimmune encephalitis
- Principal Investigator
  
  Watanabe Osamu
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  Kagoshima University
The overseas scientific research for the elucidation of the mechanism of a novel familial motor neuron disease with sensory neuropathy originated in Japan
- Principal Investigator
  
  NAKAGAWA Masanori
- Project Period (FY)
  2012 – 2014
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Neurology
- Research Institution
  Kyoto Prefectural University of Medicine
molecular genetic analysis of the three hereditary neurodegenerative disorders specifically in Japan
- Principal Investigator
  
  OHKUBO Ryuichi
- Project Period (FY)
  2010 – 2012
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  Kagoshima University
The overseas scientific research for the elucidation of the mechanism of a novel hereditary motor sensory neuropathy originated in Japan
- Principal Investigator
  
  NAKAGAWA Masanori
- Project Period (FY)
  2009 – 2011
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Neurology
- Research Institution
  Kyoto Prefectural University of Medicine
Study on the development of treatments for collagen VI related myopathy.
- Principal Investigator
  
  HIGUCHI Itsuro
- Project Period (FY)
  2009 – 2011
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  Kagoshima University
Pathomechanism of spinocereballar ataxia with axonal neuropathy(SCAN1)-DNA single strand break repair and neurodegenerationPrincipal Investigator
- Principal Investigator
  
  TAKASHIMA Hiroshi
- Project Period (FY)
  2009 – 2011
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  Kagoshima University
Pathogenesis of SCAN1, analysis of Tdp1 knockout micePrincipal Investigator
- Principal Investigator
  
  HIROSHI Takashima
- Project Period (FY)
  2007 – 2008
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  Kagoshima University
アジア人における甲状腺中毒性周期性四肢麻痺の原因遺伝子の同定
- Principal Investigator
  
  ARIMURA Kimiyoshi
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Exploratory Research
- Research Field
  
  Neurology
- Research Institution
  Kagoshima University
Comprehensive genetic analysis by DNA Chip in inherited neuropathies
- Principal Investigator
  
  ARIMURA Kimiyoshi
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Neurology
- Research Institution
  Kagoshima University
Studies on pathophysiology and experimental therapy of Ullrich's disease and Bethlem myopathy
- Principal Investigator
  
  HIGUCHI Itsuro
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  Kagoshima University
Study for the pathogenesis of neuropathy with Desert hedgehog gene mutation and development for the treatment
- Principal Investigator
  
  UMEHARA Fujio
- Project Period (FY)
  2005 – 2006
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  Kagoshima University
Clinical and Genetic studies of autosomal dominant cerebellar ataxia (Miyakonojo type)
- Principal Investigator
  
  OHKUBO Ryuichi
- Project Period (FY)
  2005 – 2006
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  Kagoshima University
Pathomechanisms of DNA repair and neurodegeneration, an analysis of SCAN1 and related disorders.Principal Investigator
- Principal Investigator
  
  TAKASHIMA Hiroshi
- Project Period (FY)
  2005 – 2006
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  Kagoshima University
Genetic determination and pathogenesis in thyrotoxic periodic paralysis
- Principal Investigator
  
  ARIMURA Kimiyoshi
- Project Period (FY)
  2004 – 2005
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  Kagoshima University
Studies on pathophysiology and experimental therapy of Ullrich's disease with collagen VI deficiency.
- Principal Investigator
  
  HIGUCHI Itsuro
- Project Period (FY)
  2004 – 2005
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  Kagoshima University

[Book] 難病と在宅ケア2021
- Author(s)
  樋口雄二郎，髙嶋　博
- Publisher
  日本プランニングセンター
- Data Source
  KAKENHI-PROJECT-18H02742
[Book] 生体の科学2020
- Author(s)
  樋口雄二郎，髙嶋　博
- Publisher
  医学書院
- Data Source
  KAKENHI-PROJECT-18H02742
[Book] 遺伝疾患としての側面.シャルコー・マリー・トゥース病診療マニュアル2010
- Author(s)
  高嶋博
- Publisher
  金芳堂
- Data Source
  KAKENHI-PROJECT-21591095
[Book] シャルコー・マリー・トゥース病診療マニュアル2010
- Author(s)
  高嶋博
- Total Pages
  155
- Publisher
  金芳堂
- Data Source
  KAKENHI-PROJECT-21591095
[Book] National Organization of Rare Disorder(NORD), Disease Database(On line textbook for patients)2009
- Author(s)
  Hirano R, Takashima H, Boerkoel CF
- Total Pages
  1
- Publisher
  Spinocerebellar ataxia with axonal neuropathy(SCAN1)
- URL
  http://www.rarediseases.org/nord/news/policy/gene_pat
- Data Source
  KAKENHI-PROJECT-21591095
[Book] Annual Review神経2007
- Author(s)
  高嶋博
- Publisher
  中外医学社
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18390262
[Book] Annual review 神経 20072007
- Author(s)
  高嶋博
- Total Pages
  335
- Publisher
  常染色体性劣性遺伝形式の末梢神経障害および小脳失調症を示す疾患-Spinocerebellar ataxia with axonal neuropathy (SCAN1)
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17590885
[Book] Annual review 神経 20072007
- Author(s)
  高嶋博
- Total Pages
  335
- Publisher
  常染色体性劣性遺伝形式の末梢神経障害および小脳失調症を示す疾患-Spinocerebellar ataxia with axonal neuropathy (SCAN1)
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17590887
[Book] Annual Review 神経 2007 常染色体性劣性遺伝形式の末梢神経障害および小脳失調症を示す疾患2007
- Author(s)
  高嶋博, 有村公良
- Publisher
  中外医学社
- Data Source
  KAKENHI-PROJECT-19591001
[Book] 難治性ニューロパチーの病態に基づく新規治療法の開発平成16-18年度総括研究報告書2007
- Author(s)
  有村公良、高嶋博
- Total Pages
  239
- Publisher
  厚生労働省精神・神経疾患研究委託費
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18390262
[Book] Annual Review 神経20072007
- Author(s)
  高嶋博, ら (柳沢信夫ら編)
- Publisher
  中外医学社
- Data Source
  KAKENHI-PROJECT-19591001
[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] 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
[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] 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] 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] Identification and tracking of HTLV-1-infected T cell clones in virus-associated neurologic disease2023
- Author(s)
  Nozuma S, Matsuura E, Tanaka M, Kodama D, Matsuzaki T, Yoshimura A, Sakiyama Y, Nakahata S, Morishita K, Enose-Akahata Y, Jacoboson S, Kubota R, Takashima H.
- Journal Title
  
  JCI Insight.
  
  Volume: 8 Issue: 7 Pages: 237-245
- DOI
  10.1172/jci.insight.167422
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K07418, KAKENHI-PROJECT-23K24380
[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] Iliopsoas Muscle Weakness as a Key Diagnostic Marker in HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP)2023
- Author(s)
  Matsuura Eiji、Nozuma Satoshi、Dozono Mika、Kodama Daisuke、Tanaka Masakazu、Kubota Ryuji、Takashima Hiroshi
- Journal Title
  
  Pathogens
  
  Volume: 12 Issue: 4 Pages: 592-592
- DOI
  10.3390/pathogens12040592
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K07418, KAKENHI-PROJECT-23K24380
[Journal Article] Efficacy of L-Arginine Treatment in Patients with HTLV-1-Associated Neurological Disease.2023
- Author(s)
  Satoshi Nozuma, Eiji Matsuura, Yuichi Tashiro, Ryusei Nagata, Masahiro Ando, Yu Hiramatsu, Yujiro Higuchi, Yusuke Sakiyama, Akihiro Hashiguchi, Kumiko Michizono, Keiko Higashi, Toshio Matsuzaki, Daisuke Kodama, Masakazu Tanaka, Yoshihisa Yamano, Takashi Moritoyo, Ryuji Kubota, Hiroshi Takashima.
- Journal Title
  
  Ann Clin Transl Neurol.
  
  Volume: 10 Issue: 2 Pages: 237-245
- DOI
  10.1002/acn3.51715
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K07418, KAKENHI-PROJECT-23K24248, KAKENHI-PROJECT-23K24380
[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] 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] 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] The Current State of Charcot-Marie-Tooth Disease Treatment2023
- Author(s)
  Okamoto Yuji、Takashima Hiroshi
- Journal Title
  
  Genes
  
  Volume: 14 Issue: 7 Pages: 1391-1391
- DOI
  10.3390/genes14071391
- Peer Reviewed / Open Access
- Data Source
  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] HTLV-1-associated myelopathy/tropical spastic paraplegia with sporadic late-onset nemaline myopathy: a case report2023
- Author(s)
  Matsuura Eiji、Nozuma Satoshi、Shigehisa Ayano、Dozono Mika、Nakamura Tomonori、Tanaka Masakazu、Kubota Ryuji、Hashiguchi Akihiro、Takashima Hiroshi
- Journal Title
  
  BMC Musculoskeletal Disorders
  
  Volume: 24 Issue: 1 Pages: 355-355
- DOI
  10.1186/s12891-023-06461-3
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K07418, KAKENHI-PROJECT-23K24380
[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
[Journal Article] Spinocerebellar Ataxia with Axonal Neuropathy Type 12022
- Author(s)
  Salih MAM, Takashima H, Boerkoel CF.
- Journal Title
  
  GeneReviews174; Seattle (WA):
  
  Volume: PMID: 20301284
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21H02842
[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] 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] 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] 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] 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] 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] 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] High Prevalence of HTLV-1 Carriers Among the Elderly Population in Kagoshima, a Highly Endemic Area in Japan2022
- Author(s)
  46.Tashiro Y, Matsuura E, Sagara Y, Nozuma S, Kodama D, Tanaka M, Koriyama C, Kubota R, Takashima H.
- Journal Title
  
  AIDS Res Hum Retroviruses.
  
  Volume: 38 Issue: 5 Pages: 363-369
- DOI
  10.1089/aid.2021.0164
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21K07418, KAKENHI-PROJECT-23K24380, KAKENHI-PROJECT-22H04923
[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] 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] 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] Pathological evidence of demyelination in the recurrent laryngeal, phrenic, and oculomotor nerves in Charcot-Marie-Tooth disease 4F2021
- Author(s)
  Maeda Kengo、Yamamoto Yutaka、Ohuchi Masatsugu、Sakashita Takuto、Shiohara Masanori、Namura Tomo、Shintaku Masayuki、Matsuura Eiji、Takashima Hiroshi
- Journal Title
  
  eNeurologicalSci
  
  Volume: 25 Pages: 100358-100358
- DOI
  10.1016/j.ensci.2021.100358
- Peer Reviewed
- Data Source
  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] Phenotypic and molecular diversities of spinocerebellar ataxia type 2 in Japan2021
- Author(s)
  Inada R, Hirano M, Oka N, Samukawa M, Saigoh K, Suzuki H, Udaka F, Hashiguchi A, Takashima H, Hamada Y, Nakamura Y, Kusunoki S.
- Journal Title
  
  J Neurol.
  
  Volume: Feb 24 Issue: 8 Pages: 2933-2942
- DOI
  10.1007/s00415-021-10467-z
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18H02742, KAKENHI-PROJECT-19K07984
[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] 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] A case of motor and sensory polyneuropathy and respiratory failure with novel heterozygous mutation of the senataxin gene2020
- Author(s)
  Kitao R, Honma Y, Hashiguchi A, Mizoguchi K, Takashima H, Komori T.
- Journal Title
  
  Rinsho Shinkeigaku
  
  Volume: 60 Issue: 7 Pages: 466-472
- DOI
  10.5692/clinicalneurol.60.cn-001415
- NAID
  130007882483
- ISSN
  0009-918X, 1882-0654
- Language
  Japanese
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18H02742
[Journal Article] A case of spastic paraplegia 48 with a novel mutation in the AP5Z1 gene2020
- Author(s)
  Maruta K, Ando M, Otomo T, Takashima H.
- Journal Title
  
  Rinsho Shinkeigaku.
  
  Volume: Aug 7;60(8) Issue: 8 Pages: 543-548
- DOI
  10.5692/clinicalneurol.60.cn-001419
- NAID
  130007885763
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18H02742
[Journal Article] Charcot-Marie-Tooth disease with a mutation in FBLN5 accompanying with the small vasculitis and widespread onion-bulb formations2020
- Author(s)
  Yamagishi Y, Samukawa M, Kuwahara M, Takada K, Saigoh K, Mitsui Y, Oka N, Hashiguchi A, Takashima H, Kusunoki S.
- Journal Title
  
  J Neurol Sci
  
  Volume: 410 Pages: 000-001
- DOI
  10.1016/j.jns.2019.116623
- Peer Reviewed / Open Access
- Data Source
  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] A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy2019
- Author(s)
  Miyabayashi T, Ochiai T, Suzuki N, Aoki M, Inui T, Okubo Y, Sato R, Togashi N, Takashima H, Ishiura H, Tsuji S, Koh K, Takiyama Y, Haginoya K
- Journal Title
  
  J Hum Genet
  
  Volume: 64 Issue: 2 Pages: 171-176
- DOI
  10.1038/s10038-018-0538-4
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07495, KAKENHI-PROJECT-18H02742, KAKENHI-PROJECT-17K17772
[Journal Article] Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease2019
- Author(s)
  Sone Jun、Mitsuhashi Satomi et al.
- Journal Title
  
  Nature Genetics
  
  Volume: 51 Issue: 8 Pages: 1215-1221
- DOI
  10.1038/s41588-019-0459-y
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K07464, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-19K07977, KAKENHI-PROJECT-19K07982, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-18H02742, KAKENHI-PROJECT-19H03577, KAKENHI-PROJECT-16K09683
[Journal Article] Muscle pathology of hereditary motor and sensory neuropathy with proximal dominant involvement with TFG mutation.2019
- Author(s)
  Yamashita S, Kimura E, Zhang Z, Tawara N, Hara K, Yoshimura Akiko, Takashima Hiroshi, Ando Y.
- Journal Title
  
  Muscle Nerve.
  
  Volume: 60 Issue: 6 Pages: 739-744
- DOI
  10.1002/mus.26683
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18H02742, KAKENHI-PROJECT-18K15370
[Journal Article] Effect of direct oral anticoagulant for acute major cerebral artery occlusion in cardioembolic stroke/transient ischemic attack patients with non-valvular atrial fibrillation.2019
- Author(s)
  Tomari Shinya, Arima Junnosuke, Yoshida Takashi, Yamashita Hitomi, Sata Reiko, Hamada Rikuzo, Kanda Naoaki, Takashima Hiroshi.
- Journal Title
  
  Journal of the neurological sciences
  
  Volume: 402 Pages: 162-166
- DOI
  10.1016/j.jns.2019.05.023
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18H02742
[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] The natural history of hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) in 97 Japanese patients.2018
- Author(s)
  Fujisaki N, Suwazono S, Suehara M, Nakachi R, Kido M, Fujiwara Y, Oshiro S, Tokashiki T, Takashima H, Nakagawa M.
- Journal Title
  
  Intractable Rare Dis Res.
  
  Volume: 7 Pages: 7-12
- NAID
  130006507541
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H05293
[Journal Article] Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy2018
- Author(s)
  Higuchi Yujiro、Ohtake Akira、Matsuura Eiji、Ueda Takehiro、Toda Tatsushi、Yamashita Sumimasa、Yamada Kenichiro、Koide Takashi、Yaguchi Hiroaki、Mitsui Jun、Ishiura Hiroyuki、Yoshimura Jun、Doi Koichiro、Morishita Shinichi、Sato Ken、Nakagawa Masanori、Yamaguchi Masamitsu、Tsuji Shoji、Takashima Hiroshi
- Journal Title
  
  Brain
  
  Volume: 印刷中 Issue: 6 Pages: 1622-1636
- DOI
  10.1093/brain/awy104
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H05293, KAKENHI-PROJECT-17K08621, KAKENHI-PROJECT-18H02742, KAKENHI-PROJECT-17H03669
[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 and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study2017
- Author(s)
  Ando Masahiro、Hashiguchi Akihiro、Okamoto Yuji、Yoshimura Akiko、Hiramatsu Yu、Yuan Junhui、Higuchi Yujiro、Mitsui Jun、Ishiura Hiroyuki、Umemura Ayako、Maruyama Koichi、Matsushige Takeshi、Morishita Shinichi、Nakagawa Masanori、Tsuji Shoji、Takashima Hiroshi
- Journal Title
  
  Journal of the Peripheral Nervous System
  
  Volume: 22 Issue: 3 Pages: 191-199
- DOI
  10.1111/jns.12228
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H05293
[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] 人類初の古細菌による感染症 ―認知症や運動障害を呈する新しい脳脊髄炎の発見―2016
- Author(s)
  﨑山佑介、神田直昭、出雲周二、髙嶋博
- Journal Title
  
  Neuroinfection
  
  Volume: ２1 Pages: 109-113
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25293205
[Journal Article] New type of encephalomyelitis responsive to trimethoprim/sulfamethoxazole treatment in Japan2015
- Author(s)
  Yusuke Sakiyama, Naoaki Kanda, Yujiro Higuchi, Michiyoshi Yoshimura,Hiroyuki Wakaguri, Yoshiharu Takata, Osamu Watanabe, Junhui Yuan, Yuichi Tashiro, Ryuji Saigo, Satoshi Nozuma, Akiko Yoshimura, Shiho Arishima, Hiroshi Takashima,
- Journal Title
  
  Neurol Neuroimmunol Neuroinflamm
  
  Volume: 2 Issue: 5 Pages: 1-9
- DOI
  10.1212/nxi.0000000000000143
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-25461286, KAKENHI-PROJECT-25293205
[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
[Journal Article] Identification and characterization of GABAA receptor autoantibodies in autoimmune encephalitis2014
- Author(s)
  Ohkawa T, Satake S, Yokoi N, Miyazaki Y, Ohshita T, Sobue G, Takashima H, Watanabe O, *Fukata Y, *Fukata M (*corresponding author).
- Journal Title
  
  J Neurosci
  
  Volume: 34 Issue: 24 Pages: 8151-8163
- DOI
  10.1523/jneurosci.4415-13.2014
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PUBLICLY-25110733, KAKENHI-PROJECT-25461286, KAKENHI-PROJECT-25890021, KAKENHI-ORGANIZER-26117001, KAKENHI-PROJECT-26291045, KAKENHI-PROJECT-26430079
[Journal Article] Hereditary Sensory and Autonomic Neuropathy Type IID Caused by an SCN9A Mutation2013
- Author(s)
  Yuan J, Matsuura E, Higuchi Y, Hashiguchi A, Nakamura T, Nozuma S, Sakiyama Y, Yoshimura A, Izumo S, Takashima H
- Journal Title
  
  Neurology
  
  Volume: 80 Issue: 18 Pages: 1641-9
- DOI
  10.1212/wnl.0b013e3182904fdd
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22590939
[Journal Article] Charcot-marie-tooth disease type 4C in Japan2013
- Author(s)
  Iguchi M, Hashiguchi A, Ito E, Toda K, Urano M, Shimizu Y, Takeuchi C, Saito K, Takashima H, Uchiyama S
- Journal Title
  
  Report of a case. Muscle Nerve
  
  Volume: 47 Issue: 2 Pages: 283-286
- DOI
  10.1002/mus.23540
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22590939
[Journal Article] Antibodies to epilepsy-related LGI1 in limbic encephalitis neutralize LGI1-ADAM22 interaction and reduce synaptic AMPA receptors.2013
- Author(s)
  Ohkawa T, Fukata Y, Yamasaki M, Miyazaki T, Yokoi N, Takashima H, Watanabe M, Watanabe O, Fukata M
- Journal Title
  
  J Neurosci,
  
  Volume: 33 Issue: 46 Pages: 18161-18174
- DOI
  10.1523/jneurosci.3506-13.2013
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24220007, KAKENHI-PROJECT-24790185, KAKENHI-PROJECT-24790187, KAKENHI-PUBLICLY-25110733, KAKENHI-PROJECT-25461286, KAKENHI-PROJECT-25890021
[Journal Article] Novel mutation in the replication focus targeting sequence domain of DNMT1 causes hereditary sensory and autonomic neuropathy IE2013
- Author(s)
  Yuan J, Higuchi Y, Nagado T, Nozuma S, Nakamura T, Matsuura E, Hashiguchi A, Sakiyama Y,Yoshimura A, Takashima H
- Journal Title
  
  J Peripher Nerv Syst
  
  Volume: 18 Issue: 1 Pages: 89-93
- DOI
  10.1111/jns5.12012
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22590939
[Journal Article] 近位筋優位運動感覚ニューロパチーの疾患概念の確立2013
- Author(s)
  中川正法、髙嶋　博。
- Journal Title
  
  神経内科
  
  Volume: 79(6) Pages: 726-731
- Data Source
  KAKENHI-PROJECT-24406030
[Journal Article] Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation2013
- Author(s)
  Tokunaga S, Hashiguchi A, Yoshimura A, Maeda K, Suzuki T, Haruki H, Nakamura T, Okamoto Y, Takashima H
- Journal Title
  
  Neurogenetics
  
  Volume: 13 Issue: 4 Pages: 359-365
- DOI
  10.1007/s10048-012-0338-5
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22590939
[Journal Article] Intraepidermal nerve fiber density and nerve conduction study parameters correlate with clinical staging of diabetic polyneuropathy2013
- Author(s)
  Arimura A, Deguchi T, Sugimoto K, Uto T, Nakamura T, Arimura Y, Arimura K,agihashi S, Nishio Y, Takashima H
- Journal Title
  
  Diabetes Res Clin Pract
  
  Volume: 99 Issue: 1 Pages: 24-29
- DOI
  10.1016/j.diabres.2012.09.026
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22590939
[Journal Article] Anti-voltage-gated potassium channel antibody is associated with chronic autonomic and sensory neuropathy.2013
- Author(s)
  Kaneko K, Tano O, Kikuchi A, Hasegawa T, Tateyama M, Yoshioka M, Saito H, Watanabe O, Takeda A, Aoki M.
- Journal Title
  
  J Neurol
  
  Volume: 260 Issue: 1 Pages: 315-317
- DOI
  10.1007/s00415-012-6730-0
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591228, KAKENHI-PROJECT-23591266, KAKENHI-PROJECT-24659423, KAKENHI-PROJECT-25461286
[Journal Article] Vincristine exacerbates asymptomatic Charcot-Marie-tooth disease with a novel EGR2 mutation.2012
- Author(s)
  Nakamura T, Hashiguchi A, Suzuki S, Uozumi K, Tokunaga S, Takashima H
- Journal Title
  
  Neurogenetics
  
  Volume: 13 Issue: 1 Pages: 77-82
- DOI
  10.1007/s10048-012-0313-1
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22590939
[Journal Article] Inflammatory radiculoneuropathy in an ALS4 patient with a novel SETX mutation2012
- Author(s)
  Saiga T, Tateishi T, Torii T, Kawamura N, Nagara Y, Shigeto H, Hashiguchi A, Takashima H, Honda H, Ohyagi Y, Kira J.
- Journal Title
  
  Inflammatory radiculoneuropathy in an ALS4 patient with a novel SETX mutation
  
  Volume: 83 Issue: 7 Pages: 763-764
- DOI
  10.1136/jnnp-2012-302281
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22590939, KAKENHI-PROJECT-23790997
[Journal Article] Inclusion body myositis coexisting with hypertrophic cardiomyopathy: An autopsy study2012
- Author(s)
  Inamori Y, Higuchi I, Inoue T, Sakiyama Y, Hashiguchi A, Higashi K, Shiraishi T, Okubo R, Arimura K, Mitsuyama Y, Takashima H.
- Journal Title
  
  Neuromuscul Disord
  
  Volume: 22 Issue: 8 Pages: 747-754
- DOI
  10.1016/j.nmd.2012.03.011
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22590939
[Journal Article] A novel EGR2 mutation within a family with a mild demyelinating form of Charcot-Marie-Tooth disease2012
- Author(s)
  Shiga K, Noto Y, Mizuta I, Hashiguchi A, Takashima H, Nakagawa M
- Journal Title
  
  J Peripher Nerv Syst
  
  Volume: 17 Issue: 2 Pages: 206-20
- DOI
  10.1111/j.1529-8027.2012.00403.x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22590939, KAKENHI-PROJECT-24406030
[Journal Article] Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy2012
- Author(s)
  Zhao Z, Hashiguchi A, Hu J, Sakiyama Y, Okamoto Y, Tokunaga S, Zhu L, Shen H, Takashima H
- Journal Title
  
  Neurology
  
  Volume: 78 Issue: 21 Pages: 1644-1649
- DOI
  10.1212/wnl.0b013e3182574f8f
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22590939
[Journal Article] Histopathological differences between human T-lymphotropic virus type 1-positive and human T-lymphotropic virus type 1-negative polymyositis2011
- Author(s)
  Abdullah HM, Higuchi I, Kubota R, Matsuura E, Hashiguchi A, Abdelbary NH, Inamori Y, Takashima H, Izumo S.
- Journal Title
  
  Clinical and Experimental Neuroimmunology
  
  Volume: 2 Pages: 12-24
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591094
[Journal Article] A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy.2011
- Author(s)
  Sakiyama Y, Okamoto Y, Higuchi I, Takashima H., et al.
- Journal Title
  
  Acta Neuropathol
  
  Volume: March 22(On line)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591095
[Journal Article] A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy2011
- Author(s)
  Sakiyama Y, Okamoto Y, Higuchi I, Inamori Y, Sangatsuda Y, Michizono K, Watanabe O, Hatakeyama H, Goto YI, Arimura K, Takashima H.
- Journal Title
  
  Acta Neuropathol
  
  Volume: 121(6) Pages: 775-783
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591095
[Journal Article] A new mitochondria-related disease showing myopathy with episodic hyper-creatine kinase-emia2011
- Author(s)
  Okamoto Y, Higuchi I, Sakiyama Y, Tokunaga S, Watanabe O, Arimura K, Nakagawa M, Takashima H.
- Journal Title
  
  Ann Neurol
  
  Volume: 70(3) Pages: 486-492
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591094
[Journal Article] A new mitochondria-related disease showing myopathy with episodic hyper-CKemia2011
- Author(s)
  Okamoto Y, Higuchi I, Sakiyama Y, Tokunaga S, Watanabe O, Arimura K, Nakagawa M, Takashima H.
- Journal Title
  
  Ann Neurol
  
  Volume: 70(3) Pages: 486-492
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591095
[Journal Article] A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy2011
- Author(s)
  Sakiyama Y, Okamoto Y, Higuchi I, Inamori Y, Sangatsuda Y, Michizono K, Watanabe O, Hatakeyama H, Goto Y, Arimura K, Takashima H.
- Journal Title
  
  Acta Neuropathol
  
  Volume: 121(6) Pages: 775-783
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591094
[Journal Article] Spinocerebellar ataxia with axonal neuropathy.2010
- Author(s)
  Walton C, Interthal H, Hirano R, Salih MA, Takashima H, Boerkoel CF.
- Journal Title
  
  Adv Exp Med Biol.
  
  Volume: 685 Pages: 75-83
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591095
[Journal Article] Spinocerebellar ataxia with axonal neuropathy2010
- Author(s)
  Walton C, Interthal H, Hirano R, Salih MA, Takashima H, Boerkoel CF
- Journal Title
  
  Adv Exp Med Biol
  
  Volume: 685 Pages: 75-83
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591095
[Journal Article] Clinical and Genetic Characterization of 16q-Linked Autosomal Dominant Spinocerebellar Ataxia in South Kyushu, Japan2009
- Author(s)
  Hirano R, Takashima H, Okubo R, Okamoto R, Maki Y, Ishida S, Suehara M, Hokezu Y, Arimura K.
- Journal Title
  
  J Hum Genet (in press ePub)
  
  Pages: 0-0
- NAID
  10030730887
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19591001
[Journal Article] Clinical and genetic characterization of 16q-linked autosomal dominants pinocerebellar ataxia in South Kyushu, Japan2009
- Author(s)
  Hirano R, Takashima H, Okubo R, Hokezu Y, Arimura K.
- Journal Title
  
  Journal of Human Genetics 54
  
  Pages: 377-81
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591095
[Journal Article] 劣性遺伝性脊髄小脳変性症の治療と具体的事例2009
- Author(s)
  高嶋博
- Journal Title
  
  難病と在宅ケア
  
  Volume: 15(3) Pages: 25-28
- Data Source
  KAKENHI-PROJECT-21591095
[Journal Article] Charcot-Marie-Tooth 病の遺伝子診断2009
- Author(s)
  高嶋博
- Journal Title
  
  神経内科 70
  
  Pages: 354-365
- Data Source
  KAKENHI-PROJECT-21591095
[Journal Article] Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan2009
- Author(s)
  Hirano R, Takashima H, Okubo R, Hokezu Y, Arimura K, et al
- Journal Title
  
  J Hum Genet
  
  Volume: 54(7) Pages: 377-81
- NAID
  10030730887
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591095
[Journal Article] 劣性遺伝性脊髄小脳変性症の治療と具体的事例2009
- Author(s)
  高嶋博
- Journal Title
  
  難病と在宅ケア 15
  
  Pages: 25-28
- Data Source
  KAKENHI-PROJECT-21591095
[Journal Article] Genetically confirmed patients with Merosin-deficient congenital Muscular dystrophy in China2008
- Author(s)
  Yuan J, Takashima H, Higuchi I, Arimura K, Li N, Zhao Z, Shen H, Hu J.
- Journal Title
  
  Neuropediatrics 39
  
  Pages: 264-267
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19591001
[Journal Article] シャルコー・マリー・トゥース病の現状と展望】 Charcot-Marie-Tooth病の病態と治療基礎医学的に見た2008
- Author(s)
  高嶋博
- Journal Title
  
  難病と在宅ケア 14巻6号
  
  Pages: 40-44
- Data Source
  KAKENHI-PROJECT-19591001
[Journal Article] シャルコー・マリー・トゥース病の現状と展望2008
- Author(s)
  高嶋博
- Journal Title
  
  Charcot-Marie-Tooth病の病態と治療基礎医学的に見た, 難病と在宅ケア 14巻6号
  
  Pages: 40-44
- Data Source
  KAKENHI-PROJECT-19591001
[Journal Article] 遺伝性ニューロパチーの診断と病態2007
- Author(s)
  高嶋博
- Journal Title
  
  Peripheral Nerve末梢神経 18
  
  Pages: 145-151
- NAID
  10027267294
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18390262
[Journal Article] Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp 1 recessive neomorphic mutation?2007
- Author(s)
  Hirano R, Takashima H, et. al.
- Journal Title
  
  EMBO J 26
  
  Pages: 4732-4743
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19591001
[Journal Article] Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?2007
- Author(s)
  Hirano R, Takashima H, et. al.
- Journal Title
  
  EMBO J 26
  
  Pages: 4732-4743
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18390262
[Journal Article] 遺伝性ニューロパチーの進歩2007
- Author(s)
  高嶋博, 有村公良
- Journal Title
  
  Clinical Neuroscience 25(7)
  
  Pages: 752-754
- Data Source
  KAKENHI-PROJECT-19591001
[Journal Article] Spinocerebellar ataxia with axonal neuropathy:consequence of a Tdpl Tecessive neomorphic mutation2007
- Author(s)
  Hirano R, Takashima H, et. al.
- Journal Title
  
  EMBO J 26
  
  Pages: 4732-4743
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18390262
[Journal Article] Spinocerebellar ataxia with axonal neuropathy : consequence of a Tdp1 recessive neomorphic mutation?2007
- Author(s)
  Hirano, R., Interthal, H., Huang, C., Nakamura, T., Deguchi, K., Choi, K., Bhattacharjee, MB., Arimura, K., Umehara, F., Izumo, S., Northrop, JL., Salih, MA., Inoue, K., Armstrong, PL., Champoux, JJ., Takashima, H., Boerkoel, CF
- Journal Title
  
  EMBO J. 26
  
  Pages: 4732-43
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390262
[Journal Article] 遺伝性ニューロパチーの進歩2007
- Author(s)
  高嶋博, 有村公良
- Journal Title
  
  Clinical Neuroscience 25
  
  Pages: 752-754
- Data Source
  KAKENHI-PROJECT-19591001
[Journal Article] 遺伝性ニューロパチーの診断と病態2007
- Author(s)
  高嶋博
- Journal Title
  
  Peripheral Nerve末梢神経 18
  
  Pages: 145-151
- NAID
  10027267294
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19591001
[Journal Article] 遺伝性ニューロパチーの進歩2007
- Author(s)
  高嶋博、有村公良
- Journal Title
  
  Clinical Neuroscience 25
  
  Pages: 752-754
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18390262
[Journal Article] 遺伝性ニューロパチーの診断と病態2007
- Author(s)
  高嶋博
- Journal Title
  
  Peripheral Nerve 末梢神経 6
  
  Pages: 145-151
- NAID
  10027267294
- Data Source
  KAKENHI-PROJECT-19591001
[Journal Article] Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy(HMSN-P) and genetic heterogeneity2007
- Author(s)
  Maeda, K., Kaji, R., Yasuno, K., Jambaldorj, J., Nodera, H., Takashima, H., Nakaeawa, M., Makino, S., Tamiya, G
- Journal Title
  
  J Hum Genet 52
  
  Pages: 907-914
- NAID
  10019798455
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390262
[Journal Article] 遺伝性ニューロパチーの進歩2007
- Author(s)
  高嶋博、有村公良
- Journal Title
  
  Clinical Neuroscience 25(7)
  
  Pages: 752-754
- Data Source
  KAKENHI-PROJECT-18390262
[Journal Article] Spinocerebellar ataxia with axonal neuropathy : consequence of a Tdp1 recessive neomorphic mutation?2007
- Author(s)
  Hirano R, Interthal H, Huang C, Nakamura T, Deguchi K, Choi K, Bhattacharjee MB, Arimura K, Umehara F, Izumo S, Northrop JL, Salih MA, Inoue K, Armstrong DL, Champoux JJ, Takashima H, Boerkoel CF
- Journal Title
  
  EMBO J. 26(22)
  
  Pages: 4732-43
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19591001
[Journal Article] Autosomal recessive ataaxia with neuropathy. -Spinocerebellar ataxia with axonal neuropathy(SCAN1)2007
- Author(s)
  Hiroshi Takashima.
- Journal Title
  
  Annual Review Neurology
  
  Pages: 335-335
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17590885
[Journal Article] Autosomal recessive ataaxia with neuropathy. -Spinocerebellar ataxia with axonal neuropathy(SCAN1)2007
- Author(s)
  Hiroshi Takashima.
- Journal Title
  
  Annual Review Neurology
  
  Pages: 335-335
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17590887
[Journal Article] 神経:ニューロパチーの遺伝子学2006
- Author(s)
  橋口昭大、高嶋博
- Journal Title
  
  最新医学 61
  
  Pages: 2047-2056
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18390262
[Journal Article] Early clinical signs and imaging findings in Gerstmann-Straussler-Scheinker syndrome (Pro102Leu).2006
- Author(s)
  Hitoshi Arata, Hiroshi Takashima, Fujio Umehara, et al.
- Journal Title
  
  Neurology 66(11)
  
  Pages: 1672-1678
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17590884
[Journal Article] Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.2006
- Author(s)
  Okamoto Y, Takashima H, et al.
- Journal Title
  
  Neurogenetics 7(3)
  
  Pages: 175-183
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17590887
[Journal Article] Aassociation of AKT1 haplotype with the risk of schizophrenia in Iranian population.2006
- Author(s)
  Bajestan SN, Takashima H, et al.
- Journal Title
  
  Am J Med Genet B Neuropsychiatr Genet 141(4)
  
  Pages: 383-386
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17590885
[Journal Article] Hereditary motor and sensory neuropathy.2006
- Author(s)
  Hiroshi Takashima, Kimiyoshi Arimura.
- Journal Title
  
  Shoni-naika 38
  
  Pages: 726-727
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17590885
[Journal Article] Spinocerebellar ataxia with axonal neuropathy(SCAN1).2006
- Author(s)
  高嶋博, 有村公良
- Journal Title
  
  神経研究の進歩 50(3)
  
  Pages: 379-386
- Data Source
  KAKENHI-PROJECT-18390262
[Journal Article] Association of AKT1 haplotype with the risk of schizophrenia in Iranian population2006
- Author(s)
  Bajestan, SN., Sabouri, AH., Nakamura, M., Takashima, H., Keikhaee MR., Behdani F., Fayyazi MR., Sargolzaee MR., Bajestan, MN., Sabouri, Z., Khayami, E., Haghighi, S., Hashemi, SB., Eiraku, N., Tufani, H., Najmabadi, H., Arimura, K., Sano, A., Osame, M
- Journal Title
  
  Am J Med Genet B Neuropsychiatr Genet 141
  
  Pages: 383-6
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390262
[Journal Article] Spinocerebellar ataxia with aaxonal neuropathy(SCAN1).2006
- Author(s)
  Takashima Hiroshi, Kimiyoshi Arimura.
- Journal Title
  
  Advances in Neurological Sciences 50(3)
  
  Pages: 379-386
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17590885
[Journal Article] 遺伝性ニューロパチーの分子遺伝学2006
- Author(s)
  高嶋博
- Journal Title
  
  臨床神経学 46(1)
  
  Pages: 1-18
- NAID
  10017290735
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17590885
[Journal Article] Early clinical signs and imaging findings in Gerstmann-Straussler-Scheinker syndrome (Pro102Leu)2006
- Author(s)
  Ohkubo R, Takashima H et al.
- Journal Title
  
  Neurology 66(11)
  
  Pages: 1672-1678
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17590885
[Journal Article] Early clinical signs and imaging findings in Gerstmann-Straussler-Scheinker syndrome (Pro102Leu).2006
- Author(s)
  Hitoshi Arata, Hiroshi Takashima, Ryuki Hirano, Hisanori Tomimitsu, Koichi Machigashira, Kotaro Izumi, Mitsuro Kikuno, A.R. Ng, Fujio Umehara, Takayo Arisato, Ryuichi Ohkubo, Y. Nakabeppu, M. Nakajo, Mitsuhiro Osame, Kimiyoshi Arimura.
- Journal Title
  
  Neurology 66
  
  Pages: 1672-1678
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17590884
[Journal Article] Spinocerebellar ataxia with axonal neuropathy (SCAN1)2006
- Author(s)
  高嶋博, 有村公良
- Journal Title
  
  神経研究の進歩 50(3)
  
  Pages: 379-386
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17590885
[Journal Article] Association of AKT1 haplotype with the risk of schizophrenia in Iranian population.2006
- Author(s)
  Bejestan SN, Takashima H, et al.
- Journal Title
  
  Am J Med Genet B Neuropsychiatr Genet 141(4)
  
  Pages: 383-386
- Data Source
  KAKENHI-PROJECT-17590885
[Journal Article] Association of AKT1 haplotype with the risk of schizophrenia in Iranian population.2006
- Author(s)
  Bajestan SN, Takashima H, et al.
- Journal Title
  
  Am J Med Genet B Neuropsychiatr Genet 141(4)
  
  Pages: 383-386
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17590885
[Journal Article] Early clinical signs and imaging findings in Gerstmann-Straussler-Scheinker syndrome (Pro102Leu).2006
- Author(s)
  Hitoshi Arata, Hiroshi Takashima, Ryuki Hirano, Fujio Umehara, et al.
- Journal Title
  
  Neurology 66(11)
  
  Pages: 1672-1678
- Data Source
  KAKENHI-PROJECT-17590884
[Journal Article] Hereditary motor and sensory neuropathy.2006
- Author(s)
  Hiroshi Takashima, Kimiyoshi Arimura.
- Journal Title
  
  Shoni-naika 38
  
  Pages: 726-727
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17590887
[Journal Article] Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.2006
- Author(s)
  Okamoto Y, Takashima H, et al.
- Journal Title
  
  Neurogenetics 7(3)
  
  Pages: 175-183
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17590885
[Journal Article] Early clinical signs and imaging findings in Gerstmann-Straussler-Scheinker syndrome (Pro102Leu)2006
- Author(s)
  Arata H, Takashima H et al.
- Journal Title
  
  Neurology 66(11)
  
  Pages: 1672-1678
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17590887
[Journal Article] Molecular Genetics of inherited neuropathy.2006
- Author(s)
  Hiroshi Takashima.
- Journal Title
  
  Rinshoshinkeigaku 46(1)
  
  Pages: 1-18
- NAID
  10017290735
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17590887
[Journal Article] Spinocerebellar ataxia with aaxonal neuropathy(SCAN1).2006
- Author(s)
  Takashima Hiroshi, Kimiyoshi Arimura.
- Journal Title
  
  Advances in Neurological Sciences 50(3)
  
  Pages: 379-386
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17590887
[Journal Article] Early clinical signs and imaging Gerstmann-Straussler-Scheinkersyndrome(Pro102Leu)2006
- Author(s)
  Arata H, Takashima H, Hirano R, et. al.
- Journal Title
  
  Neurology 66
  
  Pages: 1672-1678
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18390262
[Journal Article] Association of AKT1 haplotype with the risk of schizophrenia in Iranian population.2006
- Author(s)
  Bajestan SN, Takashima H, et al.
- Journal Title
  
  Am J Med Genet B Neuropsychiatr Genet. 141(4)
  
  Pages: 383-386
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17590887
[Journal Article] 遺伝性運動・感覚ニューロパチー2006
- Author(s)
  高嶋博, 有村公良
- Journal Title
  
  小児内科 38(増)
  
  Pages: 726-727
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17590885
[Journal Article] Early clinical signs and imaging findings in Gerstmann-Straussler-Scheinker syndrome(Pro102Leu)2006
- Author(s)
  Arata, H., Takashima, H., Hirano, R., Tomimitsu, H., Machigashira, K., Izumi, K., Kikuno, M., Ng, AR., Umehara, F., Arisato, T., Ohkubo, R., Nakabeppu, Y., Nakajo, M., Osame, M., Arimura, K
- Journal Title
  
  Neurology 66
  
  Pages: 1672-8
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390262
[Journal Article] Molecular Genetics of inherited neuropathy.2006
- Author(s)
  Hiroshi Takashima.
- Journal Title
  
  Rinshoshinkeigaku 46(1)
  
  Pages: 1-18
- NAID
  10017290735
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17590885
[Journal Article] 造伝性ニューロパチーの分子遺伝学2006
- Author(s)
  高嶋博
- Journal Title
  
  臨床神経学 46(1)
  
  Pages: 1-18
- Data Source
  KAKENHI-PROJECT-18390262
[Journal Article] Molecular mechanism of rigid spine with muscular dystrophy type l caused by novel mutations of selenoprotein N gene2006
- Author(s)
  Okamoto Y, Takashima H, Higuchi I, et. al.
- Journal Title
  
  Neurogenetics 7
  
  Pages: 175-183
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18590953
[Journal Article] Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene2006
- Author(s)
  Okamoto, Y, Takashima, H, Higuchi, I, et. al.
- Journal Title
  
  Neurogenetics 7
  
  Pages: 175-183
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18590953
[Journal Article] Spinocerebellar ataxia with axonal neuropathy (SCAN1)2006
- Author(s)
  高嶋博, 有村公良
- Journal Title
  
  神経研究の進歩 50(3)
  
  Pages: 379-386
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17590887
[Journal Article] Molecular mechanism of rigid spine with muscular dystrophy type l caused by novel mutations of selenoprotein N gene2006
- Author(s)
  Okamoto Y, Takashima H, Higuchi I, et. al.
- Journal Title
  
  Neurogenetics 7
  
  Pages: 175-183
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18390262
[Journal Article] 遺伝性ニューロパチーの分子遺伝学2006
- Author(s)
  高嶋博
- Journal Title
  
  臨床神経学 46
  
  Pages: 1-18
- NAID
  10017290735
- Data Source
  KAKENHI-PROJECT-17590887
[Journal Article] 遺伝性運動・感覚ニューロパチー2006
- Author(s)
  高嶋博, 有村公良
- Journal Title
  
  小児内科 38(増)
  
  Pages: 726-727
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17590887
[Journal Article] Association of AKT1 haplotype with the risk of schizophrenia in Iranian population.2006
- Author(s)
  Bajestan SN, Takashima H, et al.
- Journal Title
  
  Am J Med Genet B Neuropsychiatr Genet 141(4)
  
  Pages: 383-386
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17590887
[Journal Article] 遺伝性ニューロパチーの分子遺伝学2006
- Author(s)
  高嶋博
- Journal Title
  
  臨床神経学 46(1)
  
  Pages: 1-18
- NAID
  10017290735
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17590887
[Journal Article] 遺伝性運動・感覚ニューロパチー2006
- Author(s)
  高嶋博、有村公良
- Journal Title
  
  小児内科・増刊号小児疾患の診断治療基準 38
  
  Pages: 726-727
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18390262
[Journal Article] Spinocerebellar ataxia with axonal neuropathy(SCAN1)2006
- Author(s)
  高嶋博、有村公良
- Journal Title
  
  神経進歩 50
  
  Pages: 379-386
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18390262
[Journal Article] SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma.2004
- Author(s)
  Hirano R, Takashima H et al.
- Journal Title
  
  Neurology 63
  
  Pages: 577-580
- Data Source
  KAKENHI-PROJECT-16590836
[Journal Article] Fine mapping of 16q-linked autosomal dominant cerbellar ataxia type III in Japanese families2004
- Author(s)
  Hirano H, Takashima H et al.
- Journal Title
  
  Neurogenetics 5
  
  Pages: 215-221
- Data Source
  KAKENHI-PROJECT-16590836
[Journal Article] Early clinical signs and imaging findings in Gerstmann-Straussler-Scheinker syndrome (ProlO2Leu).
- Author(s)
  Arata H, Takashima H et al.
- Journal Title
  
  Neurology In press
- Data Source
  KAKENHI-PROJECT-17590887
[Journal Article] Spinocerebellar ataxia with axonal neuropathy (SCAN1).
- Author(s)
  高嶋博, 有村公良
- Journal Title
  
  神経研究の進歩 In press
- Data Source
  KAKENHI-PROJECT-17590887
[Patent] 抗菌剤を含む医薬組成物2015
- Inventor(s)
  髙嶋　博、　出雲周二
- Industrial Property Rights Holder
  髙嶋　博、　出雲周二
- Industrial Property Rights Type
  特許
- Filing Date
  2015-08-21
- Overseas
- Data Source
  KAKENHI-PROJECT-25293205
[Patent] 抗菌剤を含む医薬組成物2014
- Inventor(s)
  高嶋博、　出雲周二
- Industrial Property Rights Holder
  国立大学法人鹿児島大学
- Industrial Property Rights Type
  特許
- Filing Date
  2014
- Data Source
  KAKENHI-PROJECT-25293205
[Presentation] ILIOPSOAS MUSCLE WEAKNESS AS A KEY DIAGNOSTIC MARKER IN HTLV-1-ASSOCIATED MYELOPATHY/TROPICAL SPASTIC PARAPARESIS (HAM/TSP)2023
- Author(s)
  Eiji Matsuura, Yoshida Takashi, Satoshi Nozuma, Mika Dozono, Daisuke Kodama, Masakazu Tanaka, Ryuji Kubota and Hiroshi Takashima
- Organizer
  26th World Congress of Neurology (WCN)
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K07418
[Presentation] HTLV-1関連脊髄症/熱帯性痙性対麻痺（HAM/TSP）の診断マーカーとしての腸腰筋の筋力低下について2023
- Author(s)
  吉田崇志、松浦英治、野妻智嗣、堂園美香、兒玉大介、田中正和、久保田龍二、髙嶋博
- Organizer
  第35回日本神経免疫学会学術集会
- Data Source
  KAKENHI-PROJECT-21K07418
[Presentation] ILIOPSOAS MUSCLE WEAKNESS AS A KEY DIAGNOSTIC MARKER IN HTLV-1-ASSOCIATEDMYELOPATHY/TROPICAL SPASTIC PARAPARESIS (HAM/TSP)2023
- Author(s)
  Eiji Matsuura, Satoshi Nozuma, Mika Dozono, Takashi Yoshida, Daisuke Kodama, Masakazu Tanaka, Ryuji Kubota, Hiroshi Takashima
- Organizer
  World congress of Neurology
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K07418
[Presentation] HAM診断における腸腰筋の筋力低下の意義2023
- Author(s)
  松浦英治、野妻智嗣、樋口雄二郎、﨑山祐介、橋口昭大、道園久美子、東桂子、児玉大介、田中正和、久保田龍二、高嶋博
- Organizer
  第26回日本神経感染症学会
- Data Source
  KAKENHI-PROJECT-21K07418
[Presentation] KIF5A遺伝子変異を認めた若年性筋萎縮性側索硬化症の1例2021
- Author(s)
  神田佳樹，湯治美佳，安藤匡宏，平松　有，田邊　肇，田代雄一，﨑山祐介，松浦英治，髙嶋　博
- Organizer
  第332回日本内科学会九州地方会
- Data Source
  KAKENHI-PROJECT-18H02742
[Presentation] 小脳性運動失調症と主徴としたコケイン症候群の姉妹例2021
- Author(s)
  高橋信敬，三嶋崇靖，藤岡伸助，髙嶋　博，泉浩太郎，坪井義夫
- Organizer
  第231回日本神経学会九州地方会
- Data Source
  KAKENHI-PROJECT-18H02742
[Presentation] 精神運動発達遅滞にてんかんと舞踏様運動を合併した GNAO1 変異によるてんかん性脳症の一例2020
- Author(s)
  久保純平，足立拓馬, 神田佳樹, 湯地美佳，安藤匡宏，平松有, 田代雄一, 﨑山佑介，髙嶋博
- Organizer
  第229回日本神経学会九州地方会
- Data Source
  KAKENHI-PROJECT-18H02742
[Presentation] 次世代シーケンサーを利用した神経感染症のショットガンメタゲノム解析2020
- Author(s)
  﨑山佑介，吉村明子，湯地美佳，安藤匡宏，平松　有，田代雄一，樋口雄二郎，荒田　仁，松浦英治，髙嶋　博
- Organizer
  第61回日本神経学会学術総会
- Data Source
  KAKENHI-PROJECT-18H02742
[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] 電位依存性カリウムチャネル複合体抗体関連認知機能障害の臨床像の解析2018
- Author(s)
  渡邊　修、髙畑克徳、野村美和、牧　美充、松浦英治、髙嶋　博
- Organizer
  第60回　日本老年医学会
- Data Source
  KAKENHI-PROJECT-16K09697
[Presentation] A proposal : Isaacs’ syndrome (acquired neuromyotonia) diagnositic criteria2016
- Author(s)
  Osamu Watanabe, Kimiyoshi Arimura, Satoshi Nozuma, Kumiko Michizono, Eiji Matsuura, Hiroshi Takashima
- Organizer
  14th International Congress on Neuromuscular Diseases
- Place of Presentation
  Toronto, Canada
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K09697
[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] First Archaeal Infection in Human Brain: a new type of chronic encephalomyelitis2016
- Author(s)
  Yusuke Sakiyama, Naoaki Kanda, Junhui Yuan, Michiyoshi Yoshimura, Hitoshi Arata, Shuji Izumo, and Hiroshi Takashima
- Organizer
  第57回日本神経学会学術大会
- Place of Presentation
  神戸ｺﾝﾍﾞﾝｼｮﾝｾﾝﾀｰ（兵庫県神戸市）
- Year and Date
  2016-05-18
- Data Source
  KAKENHI-PROJECT-25293205
[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] 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] A proposal : Isaacs’ syndrome (acquired neuromyotonia) diagnositic criteria2015
- Author(s)
  Osamu Watanabe, Kimiyoshi Arimura, Satoshi Nozuma, Kumiko Michizono, Eiji Matsuura, Hiroshi Takashima
- Organizer
  第22回　世界神経学会
- Place of Presentation
  サンティアゴ（チリ）
- Year and Date
  2015-11-05
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25461286
[Presentation] 人類初の古細菌による感染症 ―認知症や運動障害を呈する新しい脳脊髄炎の発見2015
- Author(s)
  髙嶋博、﨑山佑介、出雲周二
- Organizer
  第20回日本神経感染症学会
- Place of Presentation
  ホテルメルパルク長野（長野県長野市）
- Year and Date
  2015-10-22
- Data Source
  KAKENHI-PROJECT-25293205
[Presentation] ST合剤が奏功した新しい感染性脳炎の原因究明2013
- Author(s)
  崎山佑介、神田直昭、樋口雄二郎、高田良治、渡邊修、袁軍輝、荒田仁、野妻智嗣、道園久美子、東桂子、橋口昭大、平野隆城、松浦英治、大窪隆一、樋口逸郎、岩崎琢也、出雲周二、髙嶋博
- Organizer
  日本神経学会総会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-25293205
[Presentation] Two cases of POEMS syndrome: initially misdiagnosed as CIDP2013
- Author(s)
  Osamu Watanabe, Kimiyoshi Arimura, Tomonori Nakamura, Yumiko Arimura, Yukie Inamori, Yoshiharu Takata, Kumiko Michizono, Eiji Matsuura, Hiroshi Takashima
- Organizer
  20th World Congress of Neurology
- Place of Presentation
  Austria, Vienna
- Data Source
  KAKENHI-PROJECT-25461286
[Presentation] Isaacs症候群診断基準の提案2013
- Author(s)
  渡邊　修、髙田良治、道園久美子、松浦英治、髙嶋　博、深田正紀、有村公良
- Organizer
  第54回日本神経学会総会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-25461286
[Presentation] POEMS症候群の神経伝導検査所見：初期診断がCIDPであった2症例2013
- Author(s)
  渡邊　修、有村公良、中村友紀、稲森由恵、髙田良治、有村由美子、道園久美子、松浦英治、髙嶋　博
- Organizer
  第43回　日本臨床神経生理学会
- Place of Presentation
  高知
- Data Source
  KAKENHI-PROJECT-25461286
[Presentation] A useful approach for genetic diagnosis of infectious agents using next generation sequencing2013
- Author(s)
  Y. Sakiyama, Y. Higuchi, H. Tanabe, J. Yuan, S. Nozuma, A. Yoshimura, A. Hashiguchi, Y. Okamoto, R. Hirano, E. Matsuura, R. Okubo, T. Iwasaki, F. Matsuda, S. Izumo, H. Takashima
- Organizer
  The 63th Annual meeting of the American society of human genetics Annual meeting 2013
- Place of Presentation
  Boston, U.S.A.
- Data Source
  KAKENHI-PROJECT-25293205
[Presentation] 遺伝性ニューロパチーの臨床的、遺伝学的研究 : 自験例60例の検討2012
- Author(s)
  中川正法、滋賀健介、能登祐一、水田依久子、高嶋博、橋口昭大
- Organizer
  第23回日本末梢神経学会学術集会
- Place of Presentation
  福岡
- Year and Date
  2012-08-31
- Data Source
  KAKENHI-PROJECT-24406030
[Presentation] Charcot-Marie-Tooth病における神経超音波検査の有用性の検討2012
- Author(s)
  能登祐一、滋賀健介,水田依久子,高嶋博,中川正法
- Organizer
  第42回日本臨床神経生理学会学術集会
- Place of Presentation
  東京
- Year and Date
  2012-11-09
- Data Source
  KAKENHI-PROJECT-24406030
[Presentation] 家族性筋萎縮性側索硬化症(SOD1;H46R)の進行期臨床像に関する検討2012
- Author(s)
  大窪隆一、橋口昭大、荒田仁、徳永章子、高嶋博、平野隆城、西郷隆二、田代雄一
- Organizer
  第53回日本神経学会総会
- Place of Presentation
  東京
- Year and Date
  2012-05-24
- Data Source
  KAKENHI-PROJECT-22590939
[Presentation] MPZ変異を伴うCMT11例の検討2011
- Author(s)
  中村友紀、樋口雄二郎、橋口昭大、徳永章子、岡本裕嗣、高嶋博
- Organizer
  第52回日本神経学会学術大会
- Place of Presentation
  名古屋
- Year and Date
  2011-05-20
- Data Source
  KAKENHI-PROJECT-21591095
[Presentation] MFN2点変異を有する軸策型Charcot-Marie-Tooth病17例の検討2011
- Author(s)
  橋口昭大、中村友紀、徳永章子、岡本裕嗣、高嶋博、有村公良
- Organizer
  第22回日本末梢神経学会学術集会
- Place of Presentation
  宜野湾
- Year and Date
  2011-09-03
- Data Source
  KAKENHI-PROJECT-21591095
[Presentation] 臨床神経遺伝学の進歩2011
- Author(s)
  高嶋博
- Organizer
  第29回日本神経治療学会総会教育講演
- Place of Presentation
  フェニックスプラザ(福井市)(招待講演)
- Year and Date
  2011-11-17
- Data Source
  KAKENHI-PROJECT-21591095
[Presentation] MFN2点変異を有する軸策型Charcot-Marie-Tooth病13例の検討2011
- Author(s)
  橋口昭大、中村友紀、徳永章子、岡本裕嗣、高嶋博、有村公良
- Organizer
  第52回日本神経学会学術大会
- Place of Presentation
  名古屋
- Year and Date
  2011-05-20
- Data Source
  KAKENHI-PROJECT-21591095
[Presentation] 宮崎県南部に集積する「家族性多系統変性症」の臨床的特徴について2011
- Author(s)
  崎山佑介、大窪隆一、西郷隆二、徳永章子、平野隆城、山下秀一、塩見一剛、高嶋博
- Organizer
  第52回日本神経学会総会
- Place of Presentation
  名古屋
- Year and Date
  2011-05-19
- Data Source
  KAKENHI-PROJECT-22590939
[Presentation] 嚢胞肺、腎不全、脳卒中様発作を合併したミトコンドリアミオパチー家系の検討2011
- Author(s)
  大窪隆一、樋口逸郎、稲森由恵、岡本裕嗣、田代雄一、橋口昭大、高嶋博、徳永章子平野隆城
- Organizer
  第52回日本神経学会総会
- Place of Presentation
  名古屋
- Year and Date
  2011-05-19
- Data Source
  KAKENHI-PROJECT-22590939
[Presentation] マイクロアレイDNAチップによるCharcot-Marie-Tooth病の遺伝子診断2010
- Author(s)
  徳永章子、橋口昭大、岡本裕嗣、中村友紀、有村公良、高嶋博
- Organizer
  第51回日本神経学会総会
- Place of Presentation
  東京
- Year and Date
  2010-05-20
- Data Source
  KAKENHI-PROJECT-21591095
[Presentation] The international collaboration study between Brazil and Japan for hereditary motor sensory neuropathy with proximal dominancy(HMSN-P) originated in Japan2010
- Author(s)
  Nakagawa M, Shiga K, Kaji R, Izumo S, Takashima H, Maeda K
- Organizer
  第24回ブラジル神経学会
- Place of Presentation
  Rio Janeiro, Brazil
- Year and Date
  2010-08-25
- Data Source
  KAKENHI-PROJECT-21406026
[Presentation] The international collaboration study between Brazil and Japan for hereditary motor sensory neuropathy with proximal dominancy (HMSN-P) originated in Japan2010
- Author(s)
  Masanori Nakagawa, Kensuke Shiga, Ryuji Kaji, Shuji Izumo, Hiroshi Takashima, Kengo Maeda
- Organizer
  第24回ブラジル神經学会
- Place of Presentation
  Rio Janeiro, Brazil
- Year and Date
  2010-08-25
- Data Source
  KAKENHI-PROJECT-21406026
[Presentation] CMTの臨床症状と診断法(1)成人発症のCMTシャルコー・マリー・トゥース病2010
- Author(s)
  高嶋博
- Organizer
  市民公開講座
- Place of Presentation
  東京
- Year and Date
  2010-02-21
- Data Source
  KAKENHI-PROJECT-21591095
[Presentation] Charcot-Marie-Tooth病の分子遺伝学-治療への展望2010
- Author(s)
  高嶋博
- Organizer
  第52回日本小児神経学会シンポジウム3
- Place of Presentation
  福岡
- Year and Date
  2010-05-21
- Data Source
  KAKENHI-PROJECT-21591095
[Presentation] マイクロアレイDNAチップによるCharcot-Marie-Tooth病の遺伝子診断2008
- Author(s)
  高嶋博ら
- Organizer
  厚生労働省精神・神経疾患研究委託難治性ニューロパチーの病態に基づく新規治療法の開発
- Place of Presentation
  東京都
- Year and Date
  2008-12-03
- Data Source
  KAKENHI-PROJECT-19591001
[Presentation] 分子生物学 -遺伝性ニューロパチーの展開-2007
- Author(s)
  高嶋博
- Organizer
  第48回日本神経学会総会第4回生涯教育セミナー
- Place of Presentation
  名古屋
- Year and Date
  2007-05-15
- Data Source
  KAKENHI-PROJECT-19591001
[Presentation] 分子生物学-遺伝性ニューロパチーの展開-2007
- Author(s)
  高嶋博
- Organizer
  第48回日本神経学会総会第4回生涯教育セミナー
- Place of Presentation
  名古屋
- Year and Date
  2007-05-15
- Data Source
  KAKENHI-PROJECT-19591001
[Presentation] TDP1(Tyrosyl-DNA phosphodiesterase I) 異常症SCAN1とその病態解析 -A model of recessive neomorphic mutation?-2007
- Author(s)
  平野隆城、高嶋博ら
- Organizer
  厚生労働省精神・神経疾患研究委託難治性ニューロパチーの病態に基づく新規治療法の開発
- Place of Presentation
  東京
- Year and Date
  2007-12-05
- Data Source
  KAKENHI-PROJECT-19591001
[Presentation] 遺伝性ニューロパチーの診断と病態2007
- Author(s)
  高嶋博
- Organizer
  第18回日本末梢神経学会学術集会教育講座
- Place of Presentation
  弘前
- Year and Date
  2007-08-25
- Data Source
  KAKENHI-PROJECT-19591001
[Presentation] 神経生理診断医に必要なCharcot-Marie-Tooth病の分類と遺伝子診断2007
- Author(s)
  高嶋博
- Organizer
  第37回日本臨床神経生理学会講演
- Place of Presentation
  宇都宮
- Year and Date
  2007-11-21
- Data Source
  KAKENHI-PROJECT-19591001
[Presentation] 神経生理診断医に必要なCharcot-Marie-Tooth病の分類と遺伝子診断2007
- Author(s)
  高嶋博
- Organizer
  第37回日本臨床神経生理学会講演
- Place of Presentation
  宇都宮
- Year and Date
  2007-11-21
- Data Source
  KAKENHI-PROJECT-19591001
[Presentation] 遺伝性ニューロパチー75例の臨床的、遺伝学的研究
- Author(s)
  中川正法、能登祐一、水田依久子、滋賀健介、髙嶋　博、橋口昭大
- Organizer
  第54回日本神経学会学術集会
- Place of Presentation
  東京国際フォーラム
- Data Source
  KAKENHI-PROJECT-24406030

1. ARIMURA Kimiyoshi (20159510)

# of Collaborated Projects: 8 results

# of Collaborated Products: 40 results
2. NAKAGAWA Masanori (50198040)

# of Collaborated Projects: 5 results

# of Collaborated Products: 9 results
3. 橋口昭大 (70760560)

# of Collaborated Projects: 4 results

# of Collaborated Products: 9 results
4. IZUMO Syuji (30143811)

# of Collaborated Projects: 3 results

# of Collaborated Products: 2 results
5. ARIMURA Kimiyoshi (30140908)

# of Collaborated Projects: 3 results

# of Collaborated Products: 0 results
6. KAJI Ryuji (00214304)

# of Collaborated Projects: 3 results

# of Collaborated Products: 2 results
7. SHIGA Kensuke (90336751)

# of Collaborated Projects: 3 results

# of Collaborated Products: 5 results
8. HIGUCHI Itsuro (80183573)

# of Collaborated Projects: 3 results

# of Collaborated Products: 5 results
9. Okamoto Yuji (60709658)

# of Collaborated Projects: 3 results

# of Collaborated Products: 13 results
10. UMEHARA Fujio (20271140)

# of Collaborated Projects: 2 results

# of Collaborated Products: 4 results
11. OHKUBO Ryuichi (50381166)

# of Collaborated Projects: 2 results

# of Collaborated Products: 4 results
12. MATSUURA EIJI (30598800)

# of Collaborated Projects: 2 results

# of Collaborated Products: 12 results
13. Watanabe Osamu (30511802)

# of Collaborated Projects: 2 results

# of Collaborated Products: 7 results
14. Fukata Masaki (00335027)

# of Collaborated Projects: 2 results

# of Collaborated Products: 1 results
15. OSAME Mitsuhiro (10041435)

# of Collaborated Projects: 2 results

# of Collaborated Products: 1 results
16. MATSUYAMA Wataru (90372804)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
17. HIRANO Ryuki

# of Collaborated Projects: 2 results

# of Collaborated Products: 9 results
18. NAKAMURA Tomonori

# of Collaborated Projects: 2 results

# of Collaborated Products: 5 results
19. KISHIDA Shosei (50274064)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
20. KAMEYAMA Masaki (60150059)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
21. SOBUE Gen (20148315)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
22. HAYASAKA Kiyoshi (20142961)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
23. 能登祐一 (50637270)

# of Collaborated Projects: 1 results

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

# of Collaborated Projects: 1 results

# of Collaborated Products: 8 results
25. 安藤匡宏 (60896976)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
26. Yamaguchi Masamitsu

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
27. Maeda Kengo

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
28. BOERKOEL Cornelius F.

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
29. Angelina Lino

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
30. Michael Shy

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
31. Luca Padua

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
32. Choi Byung-Ok

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
33. MIYAZAKI Taisuke

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
34. YAMASAKI Miwako

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
35. SHIMIZU Fumitaka

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
36. 滝山嘉久

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
37. 高紀信

# of Collaborated Projects: 0 results

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

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
39. 袁軍輝

# of Collaborated Projects: 0 results

# of Collaborated Products: 5 results
40. 渡辺雅彦

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
41. 深田優子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
42. 長谷川隆文

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
43. 武田篤

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
44. 平野牧人

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

TAKASHIMA Hiroshi 高嶋 博

HIROSHI Takashima 高嶋 博

Takashima Hiroshi 髙嶋 博

Research Projects

Research Products

Co-Researchers

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

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

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

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

A useful approach for genetic diagnosis of infectious agents using next generation sequencingPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Pathomechanism of spinocereballar ataxia with axonal neuropathy(SCAN1)-DNA single strand break repair and neurodegenerationPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Pathogenesis of SCAN1, analysis of Tdp1 knockout micePrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

TAKASHIMA Hiroshi 高嶋博

HIROSHI Takashima 高嶋博

Takashima Hiroshi 髙嶋博