TAKIYAMA Yoshihisa 瀧山嘉久

… 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

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

[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>SPTLC2</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 ZFYVE26-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, Schüle 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 CYP7B1 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 SPG11 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

TAKIYAMA Yoshihisa 瀧山 嘉久

Takiyama Yoshihisa 瀧山 嘉久

滝山 嘉久 タキヤマ ヨシヒサ

Research Projects

Research Products

Co-Researchers

Identification of the causative gene of hereditary spastic paraplegiaPrincipal Investigator

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Identification of causative genes for hereditary spastic paraplegiaPrincipal Investigator

Principal Investigator

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Review Section

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Identification of the novel genes responsible for hereditary spastic paraplegias

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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

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Research Institution

Molecular mechanism of autosomal dominant hererditary spastic paraplegia type 4(SPG4)Principal Investigator

Principal Investigator

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Research Institution

Isolation of the interacting proteins with aprataxin and its subcellular localization.

Principal Investigator

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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

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Relationship between intracellular traffic of proteins containing expanded polyglutamine, aggregate formation, and cell death

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The instability of expanded CAG repeats in the genes for CAG repeat DiseasesPrincipal Investigator

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Machado-Joseph病原因遺伝子(MJD1)の不安定性についてPrincipal Investigator

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脊髄小脳変性症(Machado-Joseph病)の-大家系での連鎖解析Principal Investigator

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Analysis of the qene for Machado-Joseph disease

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[Book] 神経疾患最新の治療 2018-20202018

Author(s)

TAKIYAMA Yoshihisa 瀧山嘉久

Takiyama Yoshihisa 瀧山嘉久

滝山嘉久タキヤマヨシヒサ