TAKIYAMA Yoshihisa 瀧山嘉久

Researcher Number	00245052
Other IDs
Affiliation *help	2016 – 2018 : 山梨大学, 大学院総合研究部, 教授 2016 – 2018 : 山梨大学, 総合研究部, 教授 2011 – 2013 : 山梨大学, 医学工学総合研究部, 教授 2013 : 山梨大学, 医学部, 教授 2006 – 2007 : 自治医科大学, 医学部, 講師 … More
Review Section/Research Field	Principal Investigator Neurology / Neurology / Basic Section 52020:Neurology-related Except Principal Investigator Neurology / Neurology
Keywords	Principal Investigator siRNA / Spastin / single sperm / Hereditary Spastic Paraplegia / Machado-Joseph病 / SPG7 / SPG4 / 遺伝性痙性対麻痺 / DRPLA / MJD … More Except Principal Investigator anticipation / triplet repeat / 連鎖解析 / EAOH / Machado-Joseph病 / aggregate formation / 脊髄小脳変性症 / chromosome 14 / 微小管形成センター / 細胞内局在 / 遺伝子診断 / triplet-repeat / neuronal cell death / polyglutamine / ポリグルタミン / CAG repeat / 神経細胞死 / 遺伝性痙性対麻痺 / Chediak-Higashi症候群 / 微少*形成センター / Aprataxin / エクソーム解析 / microtubulus organizing center / 遺伝子座 / C12orf65遺伝子 / ミトコンドリアDNA翻訳 / CAGリピート / モデル動物 / 遺伝性脊髄小脳変性症 / Machado-Joseph disease / aprataxin / molecular genetics / 凝集体 / LYST遺伝子 / TALEN / 分子遺伝学 / 第14染色体 / interacting proteins / gene analysis / C12orf65 / 相互作用蛋白 / ATM遺伝子 / 細胞死 / SPG55 / subcellular localization / Machado-Joseph Less

Identification of causative genes for hereditary spastic paraplegiaPrincipal InvestigatorOngoing
- Principal Investigator
  
  瀧山嘉久
- 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 2014 2013 2012 2011 2008 2007 2006 2005 2004 2003 Other

All Journal Article Presentation Book

[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] Spinocerebellar Ataxia2012
- Author(s)
  Shimazaki H and Takiyama Y.
- Total Pages
  172
- Publisher
  InTech
- Data Source
  KAKENHI-PROJECT-23591253
[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] 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] 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] 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] 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
- 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] 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 32006
- Author(s)
  Takiyama Y
- Publisher
  Sacsin-related ataxia : the SACS gene mutations.
- Data Source
  KAKENHI-PROJECT-18590954
[Journal Article] Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.2014
- Author(s)
  Shimazaki H, Honda J, Naoi T, Namekawa M, Nakano I, Yazaki M, Nakamura K, Yoshida K, Ikeda S, Ishiura H, Fukuda Y, Takahashi Y, Goto J, Tsuji S, Takiyama Y
- Journal Title
  
  J Neurol Neurosurg Psychiatry.
  
  Volume : (in press) Pages : 1024-1028
- 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 ARSACS.2013
- 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) Pages : 82-85
- DOI
  10.1111/j.1552-6569.2011.00647.x
- 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 Pages : 1389-1392
- DOI
  10.1007/s10072-011-0902-z
- 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) Pages : 746-747
- DOI
  10.1016/j.clineuro.2011.12.019
- 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
  
  Journal of medical genetics
  
  Volume : 49(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] 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] 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] 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
- Description
  「研究成果報告書概要(和文)」より
- 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] 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] 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] 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 ataxia2005
- Author(s)
  H.Shimazaki, Y Takiyama et al.
- Journal Title
  
  Neurology (in press)
- Data Source
  KAKENHI-PROJECT-15590905
[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] 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] 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
- 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] An analysis of molecular mechanism underlying spastin-induced spastic paraplegia(in Japanese)2007
- 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
  2007-02-12
- Description
  「研究成果報告書概要(欧文)」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] 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] 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] 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
[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] 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] 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

1. NISHIZAWA Masatoyo (80198457)

# of Collaborated Projects : 6results

# of Collaborated Products : 0results
2. SHIMAZAKI HARUO (30316517)

# of Collaborated Projects : 3results

# of Collaborated Products : 24results
3. KAWASHIMA Shingo (30254915)

# of Collaborated Projects : 1results

# of Collaborated Products : 0results
4. SAKOE Kumi (10398505)

# of Collaborated Projects : 1results

# of Collaborated Products : 1results
5. 高紀信 (00622557)

# of Collaborated Projects : 1results

# of Collaborated Products : 0results
6. NAMEKAWA Michito

# of Collaborated Projects : 1results

# of Collaborated Products : 1results
7. 矢崎正英

# of Collaborated Projects : 0results

# of Collaborated Products : 1results

TAKIYAMA Yoshihisa 瀧山 嘉久

Research Projects

Research Products

Co-Researchers

Identification of causative genes for hereditary spastic paraplegiaPrincipal InvestigatorOngoing

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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

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

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

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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

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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

Principal 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

Principal Investigator

Project Period (FY)

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Research Institution

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

Principal Investigator

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Research Institution

Analysis of the qene for Machado-Joseph disease

Principal Investigator

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Research Institution

[Book] Autosomal recessive spastic ataxia of Charlevoix-Saguenay : clinical, radiological and epidemiological aspects. Spinocerebellar Ataxia(Edited by Prof. Jose Gazulla)2012

Author(s)

Publisher

Data Source

[Book] Spinocerebellar Ataxia2012

Author(s)

Total Pages

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[Book] Machado-Joseph disease/Spinocerebellar ataxia type 3.Advances inspinocerebellar degeneration and spastic paraplegia.2008

TAKIYAMA Yoshihisa 瀧山嘉久