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TAKIYAMA Yoshihisa  瀧山 嘉久

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… Alternative Names

Takiyama Yoshihisa  瀧山 嘉久

滝山 嘉久  タキヤマ ヨシヒサ

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Researcher Number 00245052
Other IDs
Affiliation (Current) 2025: 山梨大学, 大学院総合研究部, 医学研究員
Affiliation (based on the past Project Information) *help 2022 – 2023: 山梨大学, 大学院総合研究部, 医学研究員
2018 – 2021: 山梨大学, 大学院総合研究部, 教授
2013: 山梨大学, 医学部, 教授
2011 – 2013: 山梨大学, 医学工学総合研究部, 教授
2006 – 2007: 自治医科大学, 医学部, 講師 … More
2003 – 2004: 自治医科大学, 医学部, 講師
1998 – 2000: Jichi Medical School, Department of Neurology, Assistant Professor, 医学部, 講師
1999: Jichi Medical School, Department of Neurology, Instructor, 保健学部, 講師
1998: 自治医科大学, 医学部・神経内科, 講師
1996 – 1998: 自治医科大学, 医学部, 助手
1993: 自治医科大学, 医学部, 助手 Less
Review Section/Research Field
Principal Investigator
Neurology / Basic Section 52020:Neurology-related / Neurology
Except Principal Investigator
Neurology / Neurology
Keywords
Principal Investigator
siRNA / Spastin / SPG4 / Hereditary Spastic Paraplegia / 遺伝性痙性対麻痺 / single sperm / SPG80 / UBAP1 / 分子病態 / SPG7 … More / AAA family protein / SCA6 / MJD / DRPLA / CAGリピート / instability / Machado-Joseph病 / HPDL / ZFYVE26 / development of treatment / knock-in mouse / HSP / SPG15 / SPG83 / 新規原因遺伝子 / エンドソーム / VPS13D / REEP2 / ALDH18A1 / 遺伝子 / Vinblastine / anti-spastin antibody / Motor protein / ビンブラスチン / 抗spastin抗体 / Hereditary spastic paraplegia / spastin / hereditary spastic paraplegia / AAAファミリー蛋白 / Huntington disease / Umbilical cord blood / Mitotic instability / Meiotic instability / CAG repeats / Laser microdissection / Huntington病 / 臍帯血 / mitotic instability / meiotic instability / レーザーマイクロダイセクション / germ line cells / laser capture microdissection / CAG repeat / sperm / germ line cell / gem line cell / レーザーキャプチャーマイクロダイセクション / 不安定性 / MJD1遺伝子 / ヒト第14染色体 / 遺伝子座 / 連鎖解析 / 脊髄小脳変性症 … More
Except Principal Investigator
EAOH / triplet repeat / anticipation / 連鎖解析 / interacting proteins / subcellular localization / aprataxin / 相互作用蛋白 / 細胞内局在 / Aprataxin / microtubulus organizing center / neuronal cell death / aggregate formation / polyglutamine / CAG repeat / 細胞死 / 微小管形成センター / 微少*形成センター / 神経細胞死 / 凝集体 / ポリグルタミン / CAGリピート / gene analysis / molecular genetics / chromosome 14 / Machado-Joseph disease / 遺伝子座 / 脊髄小脳変性症 / Machado-Joseph病 / 遺伝子診断 / triplet-repeat / 分子遺伝学 / 第14染色体 / Machado-Joseph / ミトコンドリアDNA翻訳 / C12orf65 / Chediak-Higashi症候群 / 遺伝性脊髄小脳変性症 / ATM遺伝子 / TALEN / モデル動物 / LYST遺伝子 / C12orf65遺伝子 / SPG55 / エクソーム解析 / 遺伝性痙性対麻痺 Less
  • Research Projects

    (12 results)
  • Research Products

    (138 results)
  • Co-Researchers

    (11 People)
  •  Identification of the causative gene of hereditary spastic paraplegiaPrincipal Investigator

    • Principal Investigator
      Takiyama Yoshihisa
    • Project Period (FY)
      2021 – 2023
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52020:Neurology-related
    • Research Institution
      University of Yamanashi
  •  Identification of causative genes for hereditary spastic paraplegiaPrincipal Investigator

    • Principal Investigator
      Takiyama Yoshihisa
    • Project Period (FY)
      2018 – 2020
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52020:Neurology-related
    • Research Institution
      University of Yamanashi
  •  Identification of the novel genes responsible for hereditary spastic paraplegias

    • Principal Investigator
      SHIMAZAKI HARUO
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Neurology
    • Research Institution
      Jichi Medical University
  •  An analysis of molecular mechanism underlying spastin-induced spastic paraplegia and a strategy for the development of targeted therapies for the diseasePrincipal Investigator

    • Principal Investigator
      TAKIYAMA Yoshihisa
    • Project Period (FY)
      2006 – 2007
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Neurology
    • Research Institution
      Jichi Medical University
  •  Molecular mechanism of autosomal dominant hererditary spastic paraplegia type 4(SPG4)Principal Investigator

    • Principal Investigator
      TAKIYAMA Yoshihisa
    • Project Period (FY)
      2003 – 2004
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Neurology
    • Research Institution
      Jichi Medical School
  •  Isolation of the interacting proteins with aprataxin and its subcellular localization.

    • Principal Investigator
      SHIMAZAKI Haruo
    • Project Period (FY)
      2003 – 2004
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Neurology
    • Research Institution
      JICHI MEDICAL SCHOOL
  •  レーザーマイクロダイセクションを用いたCAGリピートの不安定化機構の研究Principal Investigator

    • Principal Investigator
      TAKIYAMA Yoshihisa
    • Project Period (FY)
      1999 – 2000
    • Research Category
      Grant-in-Aid for Scientific Research (B).
    • Research Field
      Neurology
    • Research Institution
      Jichi Medical School
  •  Relationship between intracellular traffic of proteins containing expanded polyglutamine, aggregate formation, and cell death

    • Principal Investigator
      NISHIZAWA Masatoyo
    • Project Period (FY)
      1998 – 1999
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Neurology
    • Research Institution
      International University of Health and Welfare
      Jichi Medical University
  •  The instability of expanded CAG repeats in the genes for CAG repeat DiseasesPrincipal Investigator

    • Principal Investigator
      TAKIYAMA Yoshihisa
    • Project Period (FY)
      1997 – 1998
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Neurology
    • Research Institution
      Jichi Medical School
  •  Machado-Joseph病原因遺伝子(MJD1)の不安定性についてPrincipal Investigator

    • Principal Investigator
      滝山 嘉久
    • Project Period (FY)
      1996
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Neurology
    • Research Institution
      Jichi Medical University
  •  脊髄小脳変性症(Machado-Joseph病)の-大家系での連鎖解析Principal Investigator

    • Principal Investigator
      滝山 嘉久
    • Project Period (FY)
      1993
    • Research Category
      Grant-in-Aid for Encouragement of Young Scientists (A)
    • Research Field
      Neurology
    • Research Institution
      Jichi Medical University
  •  Analysis of the qene for Machado-Joseph disease

    • Principal Investigator
      NISHIZAWA Masatoyo
    • Project Period (FY)
      1993 – 1994
    • Research Category
      Grant-in-Aid for General Scientific Research (B)
    • Research Field
      Neurology
    • Research Institution
      Jichi Medical School

All 2024 2023 2022 2021 2020 2019 2018 2014 2013 2012 2011 2008 2007 2006 2005 2004 2003 Other

All Journal Article Presentation Book

  • [Book] 神経疾患最新の治療 2018-20202018

    • Author(s)
      瀧山嘉久
    • Total Pages
      368
    • Publisher
      南江堂
    • ISBN
      9784524252190
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Book] 神経変性疾患ハンドブック2018

    • Author(s)
      瀧山嘉久
    • Total Pages
      392
    • Publisher
      南江堂
    • ISBN
      9784524256174
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Book] 脊髄小脳変性症・多系統萎縮症診療ガイドライン20182018

    • Author(s)
      瀧山嘉久
    • Total Pages
      280
    • Publisher
      南江堂
    • ISBN
      9784524246175
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Book] Spinocerebellar Ataxia2012

    • Author(s)
      Shimazaki H and Takiyama Y.
    • Total Pages
      172
    • Publisher
      InTech
    • Data Source
      KAKENHI-PROJECT-23591253
  • [Book] Autosomal recessive spastic ataxia of Charlevoix-Saguenay : clinical, radiological and epidemiological aspects. Spinocerebellar Ataxia(Edited by Prof. Jose Gazulla)2012

    • Author(s)
      Shimazaki H and Takiyama Y
    • Publisher
      InTech, Rijeka, Croatia(ISBN:978-953-51-0542-8)(査読有)
    • Data Source
      KAKENHI-PROJECT-23591253
  • [Book] 遺伝性痙性対麻痺.Annual Review神経20082008

    • Author(s)
      瀧山 嘉久
    • Total Pages
      385
    • Publisher
      中外医学社
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Book] Sacsinopathies.Advances in spinocerebellar degeneration and spastic paraplegia2008

    • Author(s)
      Takiyama Y
    • Publisher
      Research Signpost(India)(in press)
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Book] 神経難病-多発性硬化症、脊髄小脳変性症, 運動器リハビリテーション実践マニュアル2008

    • Author(s)
      瀧山 嘉久
    • Total Pages
      335
    • Publisher
      全日本病院出版会
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Book] 神経難病-多発性硬化症・脊髄小脳変性症, 運動器リハビリテーション実践マニュアル2008

    • Author(s)
      瀧山 嘉久
    • Total Pages
      335
    • Publisher
      全日本病院出版会
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Book] Sacsinopathies.Advances in spinocerebellar degeneration and spastic paraplegia.2008

    • Author(s)
      Takiyama Y
    • Publisher
      Research Signpost(India)
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Book] Machado-Joseph disease/Spinocerebellar ataxia type 3.Advances in spinocerebellar degeneration and spastic paraplegia2008

    • Author(s)
      Takiyama Y
    • Publisher
      Research Signpost(India)(in press)
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Book] Machado-Joseph disease/Spinocerebellar ataxia type 3.Advances inspinocerebellar degeneration and spastic paraplegia.2008

    • Author(s)
      Takiyama Y
    • Publisher
      Research Signpost(India)
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Book] 脊髄小脳変性症のすべて2006

    • Author(s)
      瀧山嘉久
    • Publisher
      日本プランニングセンター
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Book] Research Advances in Neurology 3:Sacsin-related ataxia:the SACS genemutations2006

    • Author(s)
      Takiyama Y
    • Total Pages
      6
    • Publisher
      Global Research Network(India)
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Book] 脊髄小脳変性症のすべて2006

    • Author(s)
      瀧山 嘉久
    • Total Pages
      271
    • Publisher
      日本プランニングセンター
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Book] Research Advances in Neurology 32006

    • Author(s)
      Takiyama Y
    • Publisher
      Sacsin-related ataxia : the SACS gene mutations.
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Journal Article] Hereditary sensory and autonomic neuropathy 1E showing hyperreflexia: a case report2024

    • Author(s)
      Hayashida Hitoshi、Arita Yukimasa、Koh Kishin、Takiyama Yoshihisa、Ikezoe Koji
    • Journal Title

      Rinsho Shinkeigaku

      Volume: 64 Issue: 4 Pages: 286-291

    • DOI

      10.5692/clinicalneurol.cn-001938

    • ISSN
      0009-918X, 1882-0654
    • Language
      Japanese
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K07456
  • [Journal Article] <scp><i>SPTLC2</i></scp> variants are associated with early‐onset <scp>ALS</scp> and <scp>FTD</scp> due to aberrant sphingolipid synthesis2024

    • Author(s)
      Naruse H、Ishiura H、Takiyama Y、Morishita S、Tsuji S、Toda T, et al.
    • Journal Title

      Annals of Clinical and Translational Neurology

      Volume: - Issue: 4 Pages: 946-957

    • DOI

      10.1002/acn3.52013

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K07456, KAKENHI-PROJECT-22K15724, KAKENHI-PROJECT-23K27514
  • [Journal Article] A case of monozygotic twins with hereditary spastic paraplegia type 4 and epilepsy, of whom only one developed narcolepsy type 12023

    • Author(s)
      Mizuno Y、Uehara T、Nakamura Y、Okadome T、Mukaino T、Takiyama Y、Kira Jun‐ichi, et al.
    • Journal Title

      Journal of Sleep Research

      Volume: - Issue: 4

    • DOI

      10.1111/jsr.14102

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K07456
  • [Journal Article] Ubap1 knock-in mice reproduced the phenotype of SPG802022

    • Author(s)
      Shimozono K, Nan H, Takiyama Y, et al.
    • Journal Title

      Journal of Human Genetics

      Volume: 67 Issue: 12 Pages: 679-686

    • DOI

      10.1038/s10038-022-01073-6

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K07456, KAKENHI-PROJECT-22K09637, KAKENHI-PROJECT-22K19356, KAKENHI-PROJECT-19K16040, KAKENHI-PLANNED-20H05902, KAKENHI-PROJECT-21H04786, KAKENHI-PROJECT-20K08902, KAKENHI-PROJECT-21K19309, KAKENHI-PUBLICLY-21H00192, KAKENHI-PROJECT-23K23980
  • [Journal Article] A p.Glu420Gln mutation in SPAST is associated with infantile onset spastic paraplegia complicated by cerebellar ataxia, epilepsy, peripheral neuropathy, and hypoplasia of the corpus callosum.2022

    • Author(s)
      Nan H, Mizuno T, Arisaka A, Sei K, and Takiyama Y
    • Journal Title

      Neurol Sci

      Volume: 43 Issue: 3 Pages: 2123-2126

    • DOI

      10.1007/s10072-022-05879-2

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K07456
  • [Journal Article] A clinical and genetic study of SPG31 in Japan.2022

    • Author(s)
      Hata T, Nan H, Koh K, Ishiura H, Tsuji S, and Takiyama Y
    • Journal Title

      J Hum Genet

      Volume: online ahead of print Issue: 7 Pages: 421-425

    • DOI

      10.1038/s10038-022-01021-4

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K07456, KAKENHI-PROJECT-19K16910
  • [Journal Article] Chediak-Higashi syndrome presenting as a hereditary spastic paraplegia.2022

    • Author(s)
      Koh K, Tsuchiya M, Ishiura H, Shimazaki H, Nakamura T, Hara H, Suzuyama K, Takahashi M, Tsuji S, Takiyama Y, JASPAC.
    • Journal Title

      J Hum Genet

      Volume: 67 Issue: 2 Pages: 119-121

    • DOI

      10.1038/s10038-021-00977-z

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K07456, KAKENHI-PROJECT-19K16910
  • [Journal Article] The clinical and molecular spectrum of <i>ZFYVE26</i>-associated hereditary spastic paraplegia: SPG152022

    • Author(s)
      Safari A, Kellner M, Takiyama Y, et al.
    • Journal Title

      Brain

      Volume: on line ahead of print Issue: 5 Pages: 2003-2015

    • DOI

      10.1093/brain/awac391

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K07456
  • [Journal Article] SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report2021

    • Author(s)
      Koh K, Tkaki R, Ishihara H, Tsuji S, Takiyama Y
    • Journal Title

      BMC Neurol

      Volume: 21 Pages: 64-68

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Journal Article] A Nepalese family with an REEP2 mutation: clinical and genetic study2021

    • Author(s)
      Nan Haitian、Takaki Ryusuke、Hata Takanori、Koh Kishin、Takiyama Yoshihisa
    • Journal Title

      Journal of Human Genetics

      Volume: - Issue: 7 Pages: 1-4

    • DOI

      10.1038/s10038-020-00882-x

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K16910, KAKENHI-PROJECT-18K07495, KAKENHI-PROJECT-21K07456
  • [Journal Article] A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature.2021

    • Author(s)
      Nan H, Shiraku H, Mizuno T, and Takiyama Y
    • Journal Title

      BMC Neurol

      Volume: 21 Issue: 1 Pages: 439-439

    • DOI

      10.1186/s12883-021-02478-0

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K07456
  • [Journal Article] Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia2021

    • Author(s)
      Wiessner M, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Takiyama Y, Baets J, Synofzik M, Sch&#252;le R, Horvath R, Houlden H, Bartesaghi L, Lee HJ, Ampatzis K, Pierson TM, Senderek J.
    • Journal Title

      Brain

      Volume: - Issue: 5 Pages: 1422-1434

    • DOI

      10.1093/brain/awab041

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K16910, KAKENHI-PROJECT-21K07456
  • [Journal Article] RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia2020

    • Author(s)
      Tsuchiya Mai、Nan Haitian、Koh Kishin、Ichinose Yuta、Gao Lihua、Shimozono Keisuke、Hata Takanori、Kim Yeon-Jeong、Ohtsuka Toshihisa、Cortese Andrea、Takiyama Yoshihisa
    • Journal Title

      Journal of Human Genetics

      Volume: 65 Issue: 12 Pages: 1143-1147

    • DOI

      10.1038/s10038-020-0807-x

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PUBLICLY-19H05014, KAKENHI-PROJECT-19H03324, KAKENHI-PROJECT-18K07495
  • [Journal Article] A novel mutation in the GBA2 gene in a Japanese patient with SPG46: a case report2020

    • Author(s)
      Nakamura-Shindo K, Ono K, Koh K, Ishiura H, Tsuji S, Takiyama Y, Yamada M
    • Journal Title

      eNeurologicalSci

      Volume: 19 Pages: 100238-100238

    • DOI

      10.1016/j.ensci.2020.100238

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07495, KAKENHI-PROJECT-19K16910
  • [Journal Article] VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia2020

    • Author(s)
      Koh K, Ishiura H, Shimazaki H, Tsutsumiuchi M, Ichinose Y, Nan H, Hamada S, Ohtsuka T, Tsuji S, Takiyama Y
    • Journal Title

      Mol Genet Genomic Med

      Volume: 8 Issue: 3

    • DOI

      10.1002/mgg3.1108

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07495, KAKENHI-PROJECT-19K16910, KAKENHI-PUBLICLY-19H05014, KAKENHI-PROJECT-19H03324, KAKENHI-PROJECT-16H06279
  • [Journal Article] A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene.2020

    • Author(s)
      1.Haitian Nan, Kensho Okamoto, Lihua Gao, Yuto Morishima, Yuta Ichinose, Kishin Koh , Masaki Hashiyada , Noboru Adachi and Yoshihisa Takiyama.
    • Journal Title

      Intern Med Advance Publication

      Volume: 59 Issue: 18 Pages: 2311-2315

    • DOI

      10.2169/internalmedicine.4599-20

    • NAID

      130007904754

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K10569, KAKENHI-PROJECT-19K16910, KAKENHI-PROJECT-17H00737, KAKENHI-PROJECT-18K07495
  • [Journal Article] PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia2019

    • Author(s)
      Koh K, Ichinose Y, Ishiura H, Nan H, Mitsui J, Takahashi J, Sato W, Itoh Y, Hoshino K, Tsuji S, Takiyama Y, Japan Spastic Paraplegia Research Consortium
    • Journal Title

      J Hum Genet

      Volume: 64 Issue: 1 Pages: 55-59

    • DOI

      10.1038/s10038-018-0519-7

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07495, KAKENHI-PROJECT-17K17772
  • [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] A Japanese family with a novel nonsense mutation in the spastin gene associated with both cerebellar ataxia and cognitive impairment2019

    • Author(s)
      Tsuchiya M, Koh K, Ishida A, Ichinose Y, Shindo K, Takiyama Y
    • Journal Title

      J Neurol Sci

      Volume: 397 Pages: 114-116

    • DOI

      10.1016/j.jns.2018.12.025

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07495, KAKENHI-PROJECT-17K17772, KAKENHI-PROJECT-19K16910
  • [Journal Article] Decreasing 123I-ioflupane SPECT accumulation and 123I-MIBG myocardial scintigraphy uptake in a patient with a novel homozygous mutation in the ZFYVE26 gene2019

    • Author(s)
      Koh K, Tsuchiya M, Nagasaka T, Shindo K, Takiyama Y
    • Journal Title

      Neurol Sci

      Volume: 40 Issue: 2 Pages: 429-431

    • DOI

      10.1007/s10072-018-3603-z

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07495, KAKENHI-PROJECT-17K17772
  • [Journal Article] Spinocerebellar ataxia type 31 associated with REM sleep behavior disorder: a case report2019

    • Author(s)
      Shindo K, Sato T, Murata H, Ichinose Y, Hata T, Takiyama Y
    • Journal Title

      BMC Neurol

      Volume: 19 Issue: 1 Pages: 9-9

    • DOI

      10.1186/s12883-019-1238-1

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Journal Article] UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes2019

    • Author(s)
      Nan H, Ichinose Y, Tanaka M, Koh K, Ishiura H, Mitsui J, Mizukami H, Morimoto M, Hamada S, Ohtsuka T, Tsuji S, Takiyama Y
    • Journal Title

      J Hum Genet

      Volume: 64 Issue: 11 Pages: 1055-1065

    • DOI

      10.1038/s10038-019-0670-9

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07495, KAKENHI-PROJECT-19K16910, KAKENHI-PUBLICLY-19H05014, KAKENHI-PROJECT-19H03324
  • [Journal Article] Exome Sequencing Reveals a Novel Homozygous Frameshift Mutation in the <i>CYP7B1</i> Gene in a Japanese Patient with SPG52019

    • Author(s)
      Nan H, Shimozono K, Ichinose Y, Tsuchiya M, Koh K, Hiraide M, Takiyama Y
    • Journal Title

      Intern. Med.

      Volume: 58 Issue: 5 Pages: 719-722

    • DOI

      10.2169/internalmedicine.1839-18

    • NAID

      130007606127

    • ISSN
      0918-2918, 1349-7235
    • Year and Date
      2019-03-01
    • Language
      English
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07495, KAKENHI-PROJECT-17K17772, KAKENHI-PROJECT-19K16910
  • [Journal Article] 遺伝性痙性対麻痺の新規治療ターゲット探求のための原因遺伝子探索2019

    • Author(s)
      高 紀信、南 海天、一瀬佑太、石浦浩之、辻 省次、瀧山嘉久
    • Journal Title

      Precision Medicine

      Volume: 2 Pages: 1247-1253

    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Journal Article] JASPAC: Japan Spastic Paraplegia Research Consortium2019

    • Author(s)
      Koh K, Ishiura H, Tsuji S, Takiyama Y
    • Journal Title

      Brain Sci

      Volume: 8 Issue: 8 Pages: 153-153

    • DOI

      10.3390/brainsci8080153

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07495, KAKENHI-PROJECT-17K17772
  • [Journal Article] Novel <i>SPG11</i> Mutations in a Patient with Symptoms Mimicking Multiple Sclerosis2018

    • Author(s)
      Mukai M, Koh K, Ohnuki Y, Nagata E, Takiyama Y, Takizawa S
    • Journal Title

      Intern. Med.

      Volume: 57 Issue: 21 Pages: 3183-3186

    • DOI

      10.2169/internalmedicine.0976-18

    • ISSN
      0918-2918, 1349-7235
    • Year and Date
      2018-11-01
    • Language
      English
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07495, KAKENHI-PROJECT-17K17772
  • [Journal Article] Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment2018

    • Author(s)
      Koh K, Ishiura H, Beppu M, Shimazaki H, Ichinose Y, Mitsui J, Kuwabara S, Tsuji S, Takiyama Y, Japan Spastic Paraplegia Research Consortium
    • Journal Title

      J Hum Genet

      Volume: 63 Issue: 9 Pages: 1009-1013

    • DOI

      10.1038/s10038-018-0477-0

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07495, KAKENHI-PROJECT-17K17772
  • [Journal Article] Autosomal recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.2014

    • Author(s)
      Shimazaki H, et al.
    • Journal Title

      J Neurol Neurosurg Psychiatry

      Volume: 85 Issue: 9 Pages: 1-5

    • DOI

      10.1136/jnnp-2013-306981

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591253, KAKENHI-PROJECT-25461275, KAKENHI-PROJECT-26461297
  • [Journal Article] Middle cerebellar peduncles and pontine T2 hypointensities in ARSACS2013

    • Author(s)
      Shimazaki H, Takiyama Y, Honda J, Sakoe K, Namekawa M, Tsugawa J, Tsuboi Y, Suzuki C, Baba M, Nakano I
    • Journal Title

      J Neuroimaging

      Volume: 23(1) Issue: 1 Pages: 82-85

    • DOI

      10.1111/j.1552-6569.2011.00647.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591253
  • [Journal Article] Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay2012

    • Author(s)
      Haga R, Miki Y, Funamizu Y, Kon T, Suzuki C, Ueno T, Nishijima H, Arai A, Tomiyama M, Shimazaki H, Takiyama Y, Baba M
    • Journal Title

      Clin Neurol Neurosurg

      Volume: 114(6) Issue: 6 Pages: 746-747

    • DOI

      10.1016/j.clineuro.2011.12.019

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591253
  • [Journal Article] A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy2012

    • Author(s)
      Namekawa M, Shimazaki H, et al.
    • Journal Title

      Neurol Sci

      Volume: 33 Issue: 6 Pages: 1389-1392

    • DOI

      10.1007/s10072-011-0902-z

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591253
  • [Journal Article] A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)2012

    • Author(s)
      Shimazaki H, Takiyama Y, Ishiura H, Sakai C, Matsushima Y, Hatakeyama H, Honda J, Sakoe K, Naoi T, Namekawa M, Fukuda Y, Takahashi Y, Goto J, Tsuji S, Goto Y, Nakano I
    • Journal Title

      J Med Genet

      Volume: 49(12) Issue: 12 Pages: 777-84

    • DOI

      10.1136/jmedgenet-2012-101212

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591253, KAKENHI-PROJECT-221S0002
  • [Journal Article] 遺伝性痙性対麻痺の疫学:JASPAC.特集/遺伝性痙性対麻痺-update2011

    • Author(s)
      瀧山嘉久,石浦浩之,嶋崎晴雄,辻省次,西澤正豊
    • Journal Title

      神経内科

      Volume: 74(2) Pages: 141-145

    • Data Source
      KAKENHI-PROJECT-23591253
  • [Journal Article] Heat shock proteins and neurodegenerative diseases : New Research2008

    • Author(s)
      Sakoe, K., Takiyama, Y
    • Journal Title

      Heat-Shock Proteins : Internal Research. Nova Science Publishers, NY, USA(In : E. Morel and C. Vincent, eds.) (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Journal Article] Machado-Joseph disease/Spinocerebellar ataxia type 32008

    • Author(s)
      Takiyama, Y
    • Journal Title

      Advances in spinocerebellar degeneration and spastic paraplegia. Research Signpost, India(In : Y. Takiyama, et. al. eds.) (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Journal Article] Sacsinopathies(In : Y. Takiyama, et. al. eds.)Advances in spinocerebellar degeneration and spastic paraplegia2008

    • Author(s)
      Takiyama, Y
    • Journal Title

      Research Signpost, India (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Journal Article] Sacsinopathies : sacsin-related ataxia2007

    • Author(s)
      Takiyama, Y
    • Journal Title

      Cerebellum 6

      Pages: 353-359

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Journal Article] Sacsinopathies:sacsin related ataxia.2007

    • Author(s)
      Takiyama Y
    • Journal Title

      Cerebellum 6

      Pages: 353-359

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Journal Article] Autosomal recessive spastic ataxia of Chairlevoix-Saguenay(ARSACS).2006

    • Author(s)
      Takiyama Y
    • Journal Title

      Neuropathology 26

      Pages: 368-375

    • Data Source
      KAKENHI-PROJECT-18590954
  • [Journal Article] 脊髄小脳変性症研究の最近の進歩:シャルルヴォア、サグネ型痙性失調症2006

    • Author(s)
      瀧山 嘉久
    • Journal Title

      神経研究の進歩 50

      Pages: 387-395

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Journal Article] Sacsin-related ataxia : the SACS gene mutation2006

    • Author(s)
      Takiyama, Y
    • Journal Title

      Research Advances in Neurology 3. Global Research Network, India(In : R.M. Mohan, ed.)

      Pages: 1-6

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Journal Article] Autosomal recessive spastic ataxia of Chairlevoix-Saguenay(ARSACS) : a clinical and genetic study(in Japanese)2006

    • Author(s)
      Takiyama, Y
    • Journal Title

      Advances in Neurological Sciences 50

      Pages: 387-395

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Journal Article] Autosomal recessive spastic ataxia of Chairlevoix-Saguenay(ARSACS)2006

    • Author(s)
      Takiyama, Y
    • Journal Title

      Neuropathology 26

      Pages: 368-375

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Journal Article] Autosomal recessive spastic ataxia of Chairlevoix-Saguenay(ARSACS)2006

    • Author(s)
      Takiyama Y
    • Journal Title

      Neuropathology 26

      Pages: 368-375

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Journal Article] Progress of the diagnosis and treatment in spinocerebellar degeneration. (in Japanese)2005

    • Author(s)
      Takiyama, Y.
    • Journal Title

      Nanbyo to Zaitakukea 11

      Pages: 7-10

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15590903
  • [Journal Article] A phenotype without spasticity in sacsin-related ataxia2005

    • Author(s)
      H.Shimazaki, Y Takiyama et al.
    • Journal Title

      Neurology (in press)

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15590905
  • [Journal Article] 脊髄小脳変性症の最近の進歩2005

    • Author(s)
      瀧山嘉久
    • Journal Title

      難病と在宅ケア 11

      Pages: 7-10

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15590903
  • [Journal Article] A phenotype without spasticity in sacsin-related ataxia.2005

    • Author(s)
      Shimazaki H, Takiyama Y, et al.
    • Journal Title

      Neurology (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15590905
  • [Journal Article] 無セルロプラスミン血症の血液検査と画像2004

    • Author(s)
      瀧山嘉久
    • Journal Title

      神経内科 61

      Pages: 140-145

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15590903
  • [Journal Article] 2602delGをホモ接合体で有し小脳失調を呈した無セルロプラスミン血症の1例2004

    • Author(s)
      永田三保子, 滝山嘉久, 嶋崎晴雄ら
    • Journal Title

      脳と神経 56(10)

      Pages: 885-889

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15590905
  • [Journal Article] Identification of a SACS gene missense mutation in ARSACS.2004

    • Author(s)
      Ogawa T, Takiyama Y, Sakoe K, Shimazaki H, et al.
    • Journal Title

      Neurology 62

      Pages: 107-109

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15590905
  • [Journal Article] A case of aceruloplasminemia presenting as cerebellar ataxia with homozygous mutation nt2602 delG.2004

    • Author(s)
      Nagata M, Takiyama Y, Shimazaki H, et al.
    • Journal Title

      No to Shinkei 56

      Pages: 885-889

    • NAID

      40019912656

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15590905
  • [Journal Article] Identification of a SACS gene missense mutation in ARSACS2004

    • Author(s)
      T.Ogawa, Y.Takiyama, K.Sakoe, H.Shimazaki et al.
    • Journal Title

      Neurology 62(1)

      Pages: 107-109

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15590905
  • [Journal Article] Spinocerebellar degeneration. (in Japanese)2004

    • Author(s)
      Takiyama, Y.
    • Journal Title

      Doctor Salon 48

      Pages: 734-739

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15590903
  • [Journal Article] Laboratory and MRI findings in aceruloplasminemia. (in Japanese)2004

    • Author(s)
      Takiyama, Y., et al.
    • Journal Title

      Neurol Med 61

      Pages: 140-145

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15590903
  • [Journal Article] 脊髄小脳変性症2004

    • Author(s)
      瀧山嘉久
    • Journal Title

      ドクターサロン 48

      Pages: 734-739

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15590903
  • [Journal Article] Clinical features and molecular genetics of spastic paraplegia type 4 (SPG4). (in Japanese)2003

    • Author(s)
      Takiyama, Y.
    • Journal Title

      Neurol Med 58

      Pages: 237-243

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15590903
  • [Journal Article] MRIで辺縁系大脳皮質に限局した造影効果を認めた単純ヘルペス脳炎の1例2003

    • Author(s)
      嶋崎晴雄, 滝山嘉久ら
    • Journal Title

      Neuro-infection 7(1)

      Pages: 23-24

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15590905
  • [Journal Article] Vocal cord paralysis in spinal and bulbar muscular atrophy. (in Japanese)2003

    • Author(s)
      Takiyama, Y., et al.
    • Journal Title

      Neurol Med 58

      Pages: 442-446

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15590903
  • [Journal Article] 球脊髄性筋萎縮症と声帯麻痺2003

    • Author(s)
      瀧山嘉久
    • Journal Title

      神経内科 58

      Pages: 442-446

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15590903
  • [Journal Article] A case of herpes simplex encephalitis with marked enhancement only in the limbic cortex.2003

    • Author(s)
      Shimazaki H, Takiyama Y, et al.
    • Journal Title

      Neuro-infection 7

      Pages: 23-24

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15590905
  • [Journal Article] 痙性対麻痺-最近の進歩-純粋型遺伝性痙性対麻痺:SPG4について2003

    • Author(s)
      瀧山嘉久
    • Journal Title

      神経内科 58

      Pages: 237-243

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15590903
  • [Journal Article] 脊髄小脳変性症の最近の進歩

    • Author(s)
      瀧山嘉久
    • Journal Title

      難病と在宅ケア (印刷中)

    • Data Source
      KAKENHI-PROJECT-15590903
  • [Journal Article] Sacsinopathies : sacsin-related ataxia.

    • Author(s)
      Takiyama Y
    • Journal Title

      Cerebellum (in press)

    • Data Source
      KAKENHI-PROJECT-18590954
  • [Presentation] Ubap1ノックインマウスを用いた遺伝性痙性対麻痺の治療法開発2024

    • Author(s)
      下園啓介、南 海天、磯野藤男、岩崎 甫、上野祐司、瀧山嘉久
    • Organizer
      厚生労働省令和5年度運動失調班班会議
    • Data Source
      KAKENHI-PROJECT-21K07456
  • [Presentation] Variants in SPTAN1 in patients with hereditary spastic paraplegia.2023

    • Author(s)
      Ishiura H, Mano T, Sudo A, Koh K, Takiyama Y, JASPAC, Matsukawa T, Mitsui J, Tsuji S, Toda T.
    • Organizer
      The 64th Annual Meeting of the Japanese Society of Neurology
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K07456
  • [Presentation] 深部感覚優位の感覚障害および腱反射亢進を呈したhereditary sensory and autonomic neuropathy (HSAN1E) の1例2023

    • Author(s)
      林田仁志、有田行正、桑垣詩織、高 紀信、瀧山嘉久、池添浩二
    • Organizer
      第113回日本神経学会中国・四国地方会
    • Data Source
      KAKENHI-PROJECT-21K07456
  • [Presentation] ヘテロ接合性GRID2遺伝子変異による純粋小脳型優性遺伝性脊髄小脳失調症の一家系2022

    • Author(s)
      高 紀信、嶋崎晴雄、小川松夫、瀧山嘉久
    • Organizer
      第63回日本神経学会総会学術大会
    • Data Source
      KAKENHI-PROJECT-21K07456
  • [Presentation] Landscape of HSPs in Japan and Japan Spastic Paraplegia Research Consortium (JASPAC)2022

    • Author(s)
      Ishiura H, Koh K, Takiyama Y, Toda T, Tsuji S
    • Organizer
      TWS Symposium 2022
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K07456
  • [Presentation] 遺伝性痙性対麻痺の遺伝学-update2022

    • Author(s)
      髙 紀信、石浦浩之、辻 省次、瀧山嘉久、JASPAC
    • Organizer
      第63回日本神経学会総会学術大会シンポジウム
    • Invited
    • Data Source
      KAKENHI-PROJECT-21K07456
  • [Presentation] 幼児発症の複合型SPG4の二症例2022

    • Author(s)
      白久 博、水野朋子、南 海天、瀧山嘉久
    • Organizer
      第64回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-21K07456
  • [Presentation] LYST遺伝子変異 (Chediak-Higashi症候群) は痙性対麻痺を呈する.2021

    • Author(s)
      土屋 舞、高 紀信、石浦浩之、嶋崎晴雄、中村 毅、鈴山耕平、原 英夫、高橋牧郎、辻 省次、瀧山嘉久、JASPAC
    • Organizer
      第62回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-21K07456
  • [Presentation] 当施設の遺伝子解析にてSACS遺伝子のバリアントが同定された日本人症例の臨床的特徴.2021

    • Author(s)
      嶋崎晴雄、小川朋子、高 紀信、山本洋一、津川 潤、村上千恵子、本多正幸、黒川克朗、岩永育貴、横田光晴、瀧山嘉久、JASPAC
    • Organizer
      第62回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-21K07456
  • [Presentation] 遺伝性痙性対麻痺の病態と治療.2021

    • Author(s)
      一瀬佑太、高 紀信、南 海天、石浦浩之、三井 純、戸田達史、辻 省次、瀧山嘉久、JASPAC
    • Organizer
      第62回日本神経学会学術大会 (ホットトピックス)
    • Invited
    • Data Source
      KAKENHI-PROJECT-21K07456
  • [Presentation] REEP2遺伝子変異 (SPG72) 家系の臨床・分子遺伝学的検討.2021

    • Author(s)
      高木隆助、南 海天、羽田貴礼、高 紀信、瀧山嘉久
    • Organizer
      第62回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-21K07456
  • [Presentation] 痙性対麻痺のITB療法に関する全国多施設共同研究.2021

    • Author(s)
      一瀬佑太、高 紀信、石浦浩之、戸田達史、松瀬 大、水上平祐、山野嘉久、辻 省次、瀧山嘉久
    • Organizer
      第62回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-21K07456
  • [Presentation] GBA2遺伝子に変異を認めSPG46と診断した1兄妹例の検討.2021

    • Author(s)
      進藤桂子、小野賢二郎、白崎弘恵、柳瀬大亮、高 紀信、石浦浩之、辻 省次、瀧山嘉久、山田正仁
    • Organizer
      第62回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-21K07456
  • [Presentation] 本邦におけるSPG31の臨床・分子遺伝学的検討.2021

    • Author(s)
      羽田貴礼、高 紀信、一瀬佑太、土屋 舞、長坂高村、新藤和雅、石浦浩之、辻 省次、瀧山嘉久、JASPAC
    • Organizer
      第62回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-21K07456
  • [Presentation] CANVASの臨床・分子遺伝学的検討2020

    • Author(s)
      土屋 舞、一瀬佑太、髙 紀信、羽田貴礼、南 海天、高 麗華、長坂高村、新藤和雅、瀧山嘉久
    • Organizer
      第61回日本神経学会総会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Presentation] A clinical and genetic study of SPG80, the new type of hereditary spastic paraplegia.2020

    • Author(s)
      Ichinose Y, Nan H, Koh K, Tanaka M, Ishiura H, Mitsui J, Mizukami H, Morimoto M, Hamada S, Ohtsuka T, Tsuji S, Takiyama Y.
    • Organizer
      The 61th Annual Meeting of the Japanease Society of Neurology.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Presentation] GBA遺伝子に新規ホモ接合性ナンセンス異変を認めた遺伝性痙性対麻痺46型の姉妹例2020

    • Author(s)
      三橋 泉、中馬越清隆、髙 紀信、瀧山嘉久、玉岡 晃
    • Organizer
      第234回日本神経学会関東・甲信越地方会
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Presentation] 痙性対麻痺のITB療法に関する残酷多施設共同研究2020

    • Author(s)
      一瀬佑太、髙 紀信、石浦浩之、戸田達史、辻省次、JASPAC、瀧山嘉久
    • Organizer
      第23回日本臨床脳神経外科学会
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Presentation] Clinical and genetic study of SPG46 in Japan.2020

    • Author(s)
      Koh k, Ishihara H, Nakamagoe K, Nakamura K, Ishinose Y, Yoshikawa H, Sunada Y, Tamaoka A, Yamada M, Tsuji S, Takiyama Y, JASPAC
    • Organizer
      The 61th Annual Meeting of the Japanease Society of Neurology.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Presentation] CYP7B1遺伝子に新規フレームシフト変異を認めたSPG5の66歳女性例2019

    • Author(s)
      一瀬佑太、南 海天、下園啓介、土屋 舞、高 紀信、平井出正紀、長坂高村、瀧山嘉久
    • Organizer
      第228回日本神経学科宇関東・甲信越地方会
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Presentation] 遺伝性痙性対麻痺の新規原因遺伝子候補の抽出2019

    • Author(s)
      一瀬佑太、南 海天、高 紀信、田中真生、石浦浩之、三井 純、下邨華菜、森本昌史、濱田 駿、大塚稔久、辻 省次、瀧山嘉久
    • Organizer
      第60回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Presentation] 幼児期発症の純粋型痙性失調症 (SPG80) の49歳女性例2019

    • Author(s)
      一瀬佑太、南 海天、高 麗華、新藤和雅、瀧山嘉久
    • Organizer
      第231回日本神経学科宇関東・甲信越地方会
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Presentation] CYP7B1遺伝子に新規フレームシフト変異を認めたSPG5の66歳女性例2019

    • Author(s)
      一瀬佑太、南 海天、下園啓介、土屋 舞、高 紀信、平井出正紀、長坂高村、瀧山嘉久
    • Organizer
      第228回日本神経学会関東・甲信越地方会
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Presentation] 遺伝性痙性対麻痺の新規原因遺伝子候補の抽出2019

    • Author(s)
      一瀬佑太、南 海天、高 紀信、田中真生、石浦浩之、三井 純、下邸華菜、森本昌史、濱田 駿、大塚稔久、辻 省次、瀧山嘉久
    • Organizer
      第60回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Presentation] VPS13D関連疾患の臨床・遺伝学的検討2019

    • Author(s)
      高 紀信、石浦浩之、嶋崎晴雄、堤内路子、佐竹紅音、土屋 舞、南 海天、一瀬佑太、長坂高村、辻 省次、瀧山嘉久
    • Organizer
      第60回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Presentation] 精神遅滞、痙性対麻痺、脳梁菲薄化と白質病変を認めた40歳男性例2019

    • Author(s)
      奥根 祥、石井一弘、高 紀信、瀧山嘉久、石浦浩之、田中真生、辻 省次、玉岡 晃
    • Organizer
      第228回日本神経学会関東・甲信越地方会
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Presentation] A new method to detect potential causative genes for spastic paraplegia utilizing aggregate data of whole exome sequencing.2018

    • Author(s)
      Tanaka M, Koh K, Takiyama Y, Tsuji S
    • Organizer
      The 70th Annual Meeting of the American Academy of Neurology
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Presentation] PLA2G6遺伝子にホモ接合性p.R635Q変異を認めた遺伝性痙性対麻痺の一症例2018

    • Author(s)
      長谷川樹、木村裕子、三野俊和、竹内潤、田村暁子、武田景俊、逢坂麻由子、高紀信、小坂理、安部貴人、瀧山嘉久、伊藤義彰
    • Organizer
      第111回日本神経学会近畿地方会
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Presentation] 遺伝性痙性対麻痺の診断と治療2018

    • Author(s)
      瀧山嘉久
    • Organizer
      第61回山梨大学医師会講座
    • Invited
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Presentation] ATP13A2遺伝子のp.Ala885Asp (c.2654C>A) 変異を認めた遺伝性痙性対麻痺の1家系2018

    • Author(s)
      小竹泰子、高 紀信、瀧山嘉久、石浦浩之、辻 省次、吉田光宏
    • Organizer
      第59回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Presentation] 痙性対麻痺に認知機能低下と小脳性運動失調を合併したSPG4一家系の臨床・遺伝学的検討2018

    • Author(s)
      土屋 舞、高 紀信、一瀬佑太、瀧山嘉久
    • Organizer
      第59回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Presentation] Clinical and genetic analysis of three Japanese SPG3A families2018

    • Author(s)
      Takegami N, Ishiura H, Iwata NK, Murai H, Yasaka K, Takuma H, Tamaoka A, Koh K, Takiyama Y, Tsuji S, Toda T, Goto J
    • Organizer
      The 59th Annual Meeting of the Japanese Society of Neurology
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Presentation] PLA2G6遺伝子変異は遺伝性痙性対麻痺を引き起こす2018

    • Author(s)
      高 紀信、一瀬佑太、石浦浩之、三井 純、高橋純哉、佐藤和貴郎、伊藤義彰、星野恭子、JASPAC、辻 省次、瀧山嘉久
    • Organizer
      第59回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Presentation] 髄腔内バクロフェン療法を導入した孤発性痙性対麻痺の65歳女性例2018

    • Author(s)
      佐竹紅音、村田博朗、栗田尚史、佐藤統子、名取高広、羽田貴礼、一瀬佑太、新藤和雅、瀧山嘉久
    • Organizer
      第413回山梨神経の会
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Presentation] Japan Spastic Paraplegia Research Consortium: 分かったこと、分からないこと2018

    • Author(s)
      高 紀信、石浦浩之、一瀬佑太、田中真生、三井 純、JASPAC、辻 省次、瀧山嘉久
    • Organizer
      第59回日本神経学会学術大会
    • Invited
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Presentation] 遺伝性痙性対麻痺へのITB療法2018

    • Author(s)
      一瀬佑太、高 紀信、石浦浩之、戸田達史、辻 省次、瀧山嘉久、JASPAC
    • Organizer
      第59回日本神経学会学術大会
    • Invited
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Presentation] 家系内に末梢神経障害の混在を認めた遺伝性痙性対麻痺の36歳女性例2018

    • Author(s)
      高木隆助、高 紀信、石浦浩之、羽生修二、土屋 舞、一瀬佑太、新藤和雅、辻 省次、瀧山嘉久
    • Organizer
      第26回Nagano Neurology Conference
    • Data Source
      KAKENHI-PROJECT-18K07495
  • [Presentation] Adult Chediak-Higashi syndrome presenting as spastic paraplegia, cerebellar ataxia and neuropathy2013

    • Author(s)
      Shimazaki H, Takiyama Y, Ishiura H, Tsuji S, Yazaki M, Nakano I
    • Organizer
      American Academy of Neurology 65^<th> Annual Meeting
    • Place of Presentation
      San Diego
    • Year and Date
      2013-05-21
    • Data Source
      KAKENHI-PROJECT-23591253
  • [Presentation] 小脳失調,末梢神経障害を呈した常染色体劣性遺伝性痙性対麻痺家系の遺伝子解析2013

    • Author(s)
      嶋崎晴雄,本多純子,直井為任,滑川道人,石浦浩之,福田陽子,高橋祐二,後藤順,辻省次,矢崎正英,中村勝哉,吉田邦広,池田修一,瀧山嘉久,中野今治
    • Organizer
      第54回日本神経学会総会
    • Place of Presentation
      東京
    • Year and Date
      2013-05-31
    • Data Source
      KAKENHI-PROJECT-23591253
  • [Presentation] 常染色体劣性遺伝が疑われた遺伝痙性対麻痺症例のexome解析2013

    • Author(s)
      石浦浩之,高紀信、嶋崎晴雄、三井純、高橋祐二、吉村淳、土井晃一郎、森下真一、後藤順、瀧山嘉久、辻省次、JASPAC
    • Organizer
      日本人類遺伝学会第58回大会
    • Place of Presentation
      仙台
    • Year and Date
      2013-11-22
    • Data Source
      KAKENHI-PROJECT-23591253
  • [Presentation] Homozygous nonsense mutations of C12orf65 gene in patients with spastic paraplegia, optic atrophy and neuropathy (SPG55)2012

    • Author(s)
      Shimazaki H, Takiyama Y, Ishiura H, Tsuji S, Goto Y, Nakano I
    • Organizer
      2012 Annual Meeting of American Neurological Association
    • Place of Presentation
      Boston
    • Year and Date
      2012-10-07
    • Data Source
      KAKENHI-PROJECT-23591253
  • [Presentation] 視神経萎縮,末梢神経障害を伴う遺伝性痙性対麻痺の原因遺伝子同定2012

    • Author(s)
      嶋崎晴雄,石浦浩之,福田陽子,本多純子,迫江公己,太田京子,直井為任,滑川道人,高橋祐二,後藤順,辻省次,後藤雄一,瀧山嘉久,中野今治
    • Organizer
      第53回日本神経学会総会
    • Place of Presentation
      東京
    • Year and Date
      2012-05-23
    • Data Source
      KAKENHI-PROJECT-23591253
  • [Presentation] 視神経萎縮,末梢神経障害を伴う遺伝性痙性対麻痺症例の臨床像と,原因遺伝子検索2011

    • Author(s)
      嶋崎晴雄,石浦浩之,福田陽子,本多純子,太田京子,直井為任,滑川道人,迫江公己,高橋祐二,後藤順,辻省次,瀧山嘉久,中野今治
    • Organizer
      第52回日本神経学会総会
    • Place of Presentation
      名古屋
    • Year and Date
      2011-05-20
    • Data Source
      KAKENHI-PROJECT-23591253
  • [Presentation] SPG4遺伝子産物spastinの機能解析2011

    • Author(s)
      迫江公己,嶋崎晴雄,滑川道人,直井為任,本多純子,瀧山嘉久,中野今治
    • Organizer
      第52回日本神経学会総会
    • Place of Presentation
      名古屋
    • Year and Date
      2011-05-18
    • Data Source
      KAKENHI-PROJECT-23591253
  • [Presentation] HSPグループ3年間のまとめ2008

    • Author(s)
      瀧山 嘉久
    • Organizer
      厚生労働省 難病性疾患克服研究事業 「運動失調に関する調査及び病態機序に関する研究班」班会議
    • Place of Presentation
      東京
    • Year and Date
      2008-01-11
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Presentation] HSPグループ3年間のまとめ.2008

    • Author(s)
      瀧山 嘉久
    • Organizer
      厚生労働省難病性疾患克服研究事業「運動失調に関する調査及び病態機序に関する研究班」班会議
    • Place of Presentation
      東京
    • Year and Date
      2008-01-11
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Presentation] ベルギー人ARSACS 2家系における新規遺伝子変異の同定2008

    • Author(s)
      瀧山 嘉久
    • Organizer
      厚生労働省 難病性疾患克服研究事業 「運動失調に関する調査及び病態機序に関する研究班」斑会議
    • Place of Presentation
      東京
    • Year and Date
      2008-01-11
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Presentation] ベルギー人ARSACS 2家系における新規遺伝子変異の同定.2008

    • Author(s)
      瀧山 嘉久
    • Organizer
      厚生労働省難病性疾患克服研究事業「運動失調に関する調査及び病態機序に関する研究班」班会議
    • Place of Presentation
      東京
    • Year and Date
      2008-01-11
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Presentation] 本邦における遺伝性痙性対麻痺の検討-JASPAC一次アンケート調査より2007

    • Author(s)
      瀧山 嘉久
    • Organizer
      厚生労働省 難病性疾患克服研究事業 「運動失調に関する調査及び病態機序に関する研究班」班会議
    • Place of Presentation
      東京
    • Year and Date
      2007-01-12
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Presentation] シャルルヴォア、サグネ型痙性失調症(ARSACS)の臨床、分子遺伝学2007

    • Author(s)
      瀧山 嘉久
    • Organizer
      第7回東京SCD研究会
    • Place of Presentation
      東京
    • Year and Date
      2007-07-05
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Presentation] シャルルヴォア・サグネ型痙性失調症(ARSACS)の臨床・分子遺伝学.2007

    • Author(s)
      瀧山 嘉久
    • Organizer
      第7回東京SGD研究会
    • Place of Presentation
      東京
    • Year and Date
      2007-07-05
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Presentation] Spastin蛋白の機能解析2006

    • Author(s)
      瀧山 嘉久
    • Organizer
      厚生労働省 難病性疾患克服研究事業 「運動失調に関する調査及び病態機序に関する研究班」班会議
    • Place of Presentation
      東京
    • Year and Date
      2006-01-14
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Presentation] 本邦のChairlevoix-Saguenay型痙性失調症6家系9名における臨床、分子遺伝学的検討2006

    • Author(s)
      瀧山 嘉久
    • Organizer
      厚生労働省 難病性疾患克服研究事業 「運動失調に関する調査及び病態機序に関する研究班」班会議
    • Place of Presentation
      東京
    • Year and Date
      2006-01-14
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Presentation] Spastin蛋白の機能解析2006

    • Author(s)
      瀧山 嘉久
    • Organizer
      第47回日本神経学会総会
    • Place of Presentation
      東京
    • Year and Date
      2006-05-11
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Presentation] An analysis of molecular mechanism underlying spastin-induced spastic paraplegia(in Japanese)2006

    • Author(s)
      Takiyama, Y., et. al.
    • Organizer
      The 47th annual meeting of Japan Neurology Society
    • Place of Presentation
      Tokyo
    • Year and Date
      2006-05-11
    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Presentation] An analysis of molecular mechanism underlying spastin-induced spastic paraplegia(in Japanese)2006

    • Author(s)
      Takiyama, Y., et. al.
    • Organizer
      Annual meeting of the Research Commitiee for Ataxic Diseases, the Ministry of Health, Labor and Wlfare, Japan
    • Place of Presentation
      Tokyo
    • Year and Date
      2006-01-14
    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Presentation] A proposal of Japan Spastic Paraplegia Research Consortium(JASPAC)2006

    • Author(s)
      Takiyama, Y., et. al.
    • Organizer
      Annual meeting of the Research Commitiee for Ataxic Diseases, the Ministry of Health, Labor and Wlfare, Japan
    • Place of Presentation
      Tokyo
    • Year and Date
      2006-02-14
    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18590954
  • [Presentation] 痙性対麻痺全国共同研究の提案-JASPAC(Japan Spastic Paraplegia Research Consortium)2006

    • Author(s)
      瀧山 嘉久
    • Organizer
      厚生労働省 難病性疾患克服研究事業 「運動失調に関する調査及び病態機序に関する研究班」班会議
    • Place of Presentation
      東京
    • Year and Date
      2006-01-14
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18590954
  • 1.  NISHIZAWA Masatoyo (80198457)
    # of Collaborated Projects: 6 results
    # of Collaborated Products: 0 results
  • 2.  SHIMAZAKI HARUO (30316517)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 23 results
  • 3.  KAWASHIMA Shingo (30254915)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 4.  SAKOE Kumi (10398505)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 5.  高 紀信 (00622557)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 33 results
  • 6.  一瀬 佑太 (90644782)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 15 results
  • 7.  下園 啓介 (10937949)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 8.  土屋 舞 (30722615)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 3 results
  • 9.  NAMEKAWA Michito
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 10.  大塚 稔久
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 11.  橋谷田 真樹
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

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