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Gnentic analysis to identify new causative genes in autosomal dominant Parkinson's disease

Research Project

Project/Area Number 21591098
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Neurology
Research InstitutionJuntendo University

Principal Investigator

TOMIYAMA Hiroyuki  順天堂大学, 医学部, 准教授 (20515069)

Co-Investigator(Kenkyū-buntansha) HATTORI Nobutaka  順天堂大学, 医学部, 教授 (80218510)
Project Period (FY) 2009 – 2011
Project Status Completed (Fiscal Year 2011)
Budget Amount *help
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2011: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2010: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2009: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Keywordsパーキンソン病(PD) / 常染色体優性遺伝性パーキンソン病(ADPD) / 遺伝 / 遺伝子 / 遺伝子変異 / 多型 / パーキンソン病 / 家族性パーキンソン病 / 常染色体優性遺伝 / 分子遺伝学 / 変異 / SNCA / LRRK2 / パーキソンソ病 / 家族性パーキソンソ病
Research Abstract

To clarify the etiology and pathogenesis of Parkinson's disease(PD), studies for hereditary PD are very important. However, disease-related mutations have not been detected in many patients with familial PD, especially in autosomal dominant PD(ADPD). In this study, we aimed to identify novel causative genes and elucidate the pathogenic mechanisms of PD by conducting mutation analysis for ADPD. From our results, we could identify many disease-related mutations such as SNCA, LRRK2, SCA2, VPS35, and GBA. In other words, we could identify a portion of the many genetic factors which are strongly related to the pathological mechanisms of ADPD. Furthermore, over 300 families with ADPD were registered in our genetic bank in the past three years. This implies that our study has been making meaningful progress by establishing a firm foundation for future research, which will help to identify novel causative genes and to clarify the etiology and pathogenesis in ADPD. In fact, some new candidate genes have been detected.

Report

(4 results)
  • 2011 Annual Research Report   Final Research Report ( PDF )
  • 2010 Annual Research Report
  • 2009 Annual Research Report
  • Research Products

    (87 results)

All 2012 2011 2010 2009 Other

All Journal Article (41 results) (of which Peer Reviewed: 38 results) Presentation (40 results) Book (5 results) Remarks (1 results)

  • [Journal Article] パーキンソン病の基礎研究最前線:実地医家のためのminimum requirement. Modern Physician2012

    • Author(s)
      舩山学, 富山弘幸
    • Journal Title

      新興医学出版社

      Volume: 32 Pages: 201-5

    • Related Report
      2011 Annual Research Report
  • [Journal Article] Perry症候群とDCTN1遺伝子変異2012

    • Author(s)
      富山弘幸
    • Journal Title

      Medical Science Digest (MSD)ニューサイエンス社

      Volume: 38

    • Related Report
      2011 Annual Research Report
  • [Journal Article] A large-scale genetic association study to evaluate the contribution of Omi/HtrA2(PARK13) to Parkinson's disease2011

    • Author(s)
      Kruger R, Sharma M, Riess O, Gasser T, Van Broeckhoven C, Theuns J, Aasly J, Annesi G, Bentivoglio AR, Brice A, Djarmati A, Elbaz A, Farrer M, Ferrarese C, Gibson JM, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Klein C, Lambert JC, Lesage S, Lin JJ, Lynch T, Mellick GD, de Nigris F, Opala G, Prigione A, Quattrone A, Ross OA, Satake W, Silburn PA, Tan EK, Toda T, Tomiyama H, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Maraganore DM ; for the Genetic Epidemiology of Parkinson's disease consortium
    • Journal Title

      Neurobiol Aging

      Volume: 32

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Visual Grasping in Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17(Microtubule-Associated with Protein Tau): A Comparison of 123 I-IMP Brain Perfusion SPECT Analysis with Progressive Supranuclear Palsy2011

    • Author(s)
      Ogaki K, Motoi Y, Li Y, Tomiyama H, Shimizu N, Takanashi M, Nakanishi A, Yokoyama K, Hattori N
    • Journal Title

      Mov Disord

      Volume: 26 Pages: 561-3

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Axon guidance pathway genes and Parkinson's disease(Commentary)2011

    • Author(s)
      Tomiyama H
    • Journal Title

      J Hum Genet

      Volume: 56 Pages: 102-3

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] PLA2G6 variant in Parkinson's disease2011

    • Author(s)
      Tomiyama H, Yoshino H, Ogaki K, Li L, Yamashita C, Li Y, Funayama M, Sasaki R, Kokubo Y, Kuzuhara S, Hattori N
    • Journal Title

      J Hum Genet

      Volume: 56 Pages: 401-3

    • NAID

      10030659472

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Analysis of PLA2G6 in patients with frontotemporal type of dementia2011

    • Author(s)
      Tomiyama H, Yoshino H, Hattori N
    • Journal Title

      Parkinsonism Relat Disord

      Volume: 17 Pages: 493-4

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Genetic Epidemiology of Parkinson's Disease Consortium. Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease2011

    • Author(s)
      Sharma M, Maraganore DM, Ioannidis JP, Riess O, Aasly JO, Annesi G, Abahuni N, Bentivoglio AR, Brice A, Van Broeckhoven C, Chartier-Harlin MC, Destee A, Djarmati A, Elbaz A, Farrer M, Ferrarese C, Gibson JM, Gispert S, Hattori N, Jasinska-Myga B, Klein C, Lesage S, Lynch T, Lichtner P, Lambert JC, Lang AE, Mellick GD, Nigris FD, Opala G, Quattrone A, Riva C, Rogaeva E, Ross OA, Satake W, Silburn PA, Theuns J, Toda T, Tomiyama H, Uitti RJ, Wirdefeldt K, Wszolek Z, Gasser T, Kruger R
    • Journal Title

      Neurobiol Aging

      Volume: 32

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Comprehensive mutational analysis of LRRK2 reveals variants supporting association with autosomal dominant Parkinson's disease2011

    • Author(s)
      Seki N, Takahashi Y, Tomiyama H, Rogaeva E, Murayama S, Mizuno Y, Hattori N, Marras C, Lang AE, George-Hyslop PS, Goto J, Tsuji S
    • Journal Title

      J Hum Genet

      Volume: 56 Pages: 671-5

    • NAID

      10030660937

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Association of LRRK2 exonic variants with susceptibility to Parkinson's disease : a case-control study2011

    • Author(s)
      Ross OA, Soto-Ortolaza AI, Heckman MG, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Van Broeckhoven C, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, Elbaz A, Ferrarese C, Ferraris A, Fiske B, Gibson JM,Gibson R, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lesage S, Lin CH, Lynch T, Maraganore DM, Mellick GD, Mutez E, Nilsson C, Opala G, Park SS, Puschmann A, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Theuns J, Tomiyama H, Uitti RJ, Valente EM, van de Loo S, Vassilatis DK, Vilarino-Guell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Farrer MJ ; on behalf of the Genetic Epidemiology Of Parkinson's Disease(GEO-PD) Consortium
    • Journal Title

      Lancet Neurol

      Volume: 10 Pages: 898-908

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Visual Grasping in Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17 (Microtubule-Associated with Protein Tau) : A Comparison of 123 I-IMP Brain Perfusion SPECT Analysis with Progressive Supranuclear Palsy2011

    • Author(s)
      Ogaki K, Motoi Y, Li Y, Tomiyama H, et al
    • Journal Title

      Mov Disord

      Volume: 26 Pages: 561-3

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Axon guidance pathway genes and Parkinson's disease (Commentary)2011

    • Author(s)
      Tomiyama H
    • Journal Title

      J Hum Genet

      Volume: 56 Pages: 102-3

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Li L, Yamashita C, Li Y, Funayama M, Sasaki R, Kokubo Y, Kuzuhara S, Hattori N.PLA2G6 variant in Parkinson's disease2011

    • Author(s)
      Tomiyama H, Yoshino H, Ogaki K, et al
    • Journal Title

      J Hum Genet

      Volume: 56 Pages: 401-3

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease2011

    • Author(s)
      Sharma M, et al
    • Journal Title

      Neurobiol Aging

      Volume: 32

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Parkinson's disease-related LRRK2 G2019mutation results from independent mutational events in humans2010

    • Author(s)
      Lesage S, Patin E, Condroyer C, Leutenegger AL, Lohmann E, Giladi N, Bar-Shira A, Belarbi S, Hecham N, Pollak P, Ouvrard-Hernandez AM, Bardien S, Carr J, Benhassine T, Tomiyama H, Pirkevi C, Hamadouche T, Cazeneuve C, Basak AN, Hattori N, Durr A, Tazir M,Orr-Urtreger A, Quintana-Murci L, Brice A
    • Journal Title

      Hum Mol Genet

      Volume: 19 Pages: 1998-2004

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines2010

    • Author(s)
      Mitsui J, Takahashi Y, Goto J, Tomiyama H, Ishikawa S, Yoshino H, Minami N, Smith DI, Lesage S, Aburatani H, Nishino I, Brice A, Hattori N, Tsuji S
    • Journal Title

      Am J Hum Genet

      Volume: 87 Pages: 75-89

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] No evidence for pathogenic role of GIGYF2 mutation in Parkinson disease in Japanese patients2010

    • Author(s)
      Li L, Funayama M, Tomiyama H, Li Y, Yoshino H, Sasaki R, Kokubo Y, Kuzuhara S, Mizuno Y, Hattori N
    • Journal Title

      Neurosci Lett

      Volume: 479 Pages: 245-8

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Clinical course of the first Asian family with Parkinsonism related to SNCA triplication2010

    • Author(s)
      Sekine T, Kagaya H, Funayama M, Li Y, Yoshino H, Tomiyama H, Hattori N
    • Journal Title

      Mov Disord

      Volume: 25 Pages: 2871-75

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Phenotypicspectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism2010

    • Author(s)
      Yoshino H, Tomiyama H, Tachibana N, Ogaki K, Li Y, Funayama M, Hashimoto T, Takashima S, Hattori N
    • Journal Title

      Neurology

      Volume: 75 Pages: 1356-61

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Rapid screening of ATP13A2 variant with high-resolution melting analysis2010

    • Author(s)
      Funayama M, Tomiyama H, Wu RM, Ogaki K, Yoshino H, Mizuno Y, Hattori N
    • Journal Title

      Mov Disord

      Volume: 25 Pages: 2434-7

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.2010

    • Author(s)
      Lesage S, Patin E, Condroyer C, Leutenegger AL, Lohmann E, Giladi N, Bar-Shira A, Belarbi S, Hecham N, Pollak P, Ouvrard-Hernandez AM, Bardien S, Carr J, Benhassine T, Tomiyama H, et al.
    • Journal Title

      Hum Mol Genet

      Volume: 19 Pages: 1998-2004

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines.2010

    • Author(s)
      Mitsui J, Takahashi Y, Goto J, Tomiyama H, et al.
    • Journal Title

      Am J Hum Genet

      Volume: 87 Pages: 75-89

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] No evidence for pathogenic role of GIGYF2 mutation in Parkinson disease in Japanese patients.2010

    • Author(s)
      Li L, Funayama M, Tomiyama H, et al.
    • Journal Title

      Neurosci Lett

      Volume: 479 Pages: 245-8

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Clinical course of the first Asian family with Parkinsonism related to SNCA triplication.2010

    • Author(s)
      Sekine T, Kagaya H, Funayama M, Li Y, Yoshino H, Tomiyama H, Hattori N.
    • Journal Title

      Mov Disord

      Volume: 25 Pages: 2871-75

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism.2010

    • Author(s)
      Yoshino H, Tomiyama H, Tachibana N, Ogaki K, et al.
    • Journal Title

      Neurology

      Volume: 75 Pages: 1356-61

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Rapid screening of ATP13A2 variant with high-resolution melting analysis.2010

    • Author(s)
      Funayama M, Tomiyama H, Wu RM, Ogaki K, et al.
    • Journal Title

      Mov Disord

      Volume: 25 Pages: 2434-37

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Axon guidance pathway genes and Parkinson's disease (Commentary).2010

    • Author(s)
      Tomiyama H.
    • Journal Title

      J Hum Genet

      Volume: 56 Pages: 102-3

    • Related Report
      2010 Annual Research Report
  • [Journal Article] A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype2009

    • Author(s)
      Pirkevi C, Lesage S, Condroyer C, Tomiyama H, Hattori N, Ertan S, Brice A, Ba. ak AN
    • Journal Title

      Neurogenetics

      Volume: 10 Pages: 271-3

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Preserved cardiac 123I-MIBG uptake and lack of severe autonomic dysfunction in a PARK9 patient2009

    • Author(s)
      Kanai K, Asahina M, Arai K, Tomiyama H, Kuwabara Y, Uchiyama T, Sekiguchi Y, Funayama M, Kuwabara S, Hattori N, Hattori T
    • Journal Title

      Mov Disord

      Volume: 24 Pages: 1403-4

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Mutation analysis for DJ-1 in sporadic and familial parkinsonism : Screening strategy in parkinsonism2009

    • Author(s)
      Tomiyama H, Li Y, Yoshino H, Mizuno Y, Kubo S, Toda T, Hattori N
    • Journal Title

      Neurosci Lett

      Volume: 455 Pages: 159-61

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease : Large-scale collaborative study2009

    • Author(s)
      Evangelou E, Maraganore DM, Annesi G, Brighina L, Brice A, Elbaz A, Ferrarese C, Hadjigeorgiou GM, Krueger R, Lambert JC, Lesage S, Markopoulou K, Mellick GD, Meeus B, Pedersen NL, Quattrone A, Van Broeckhoven C, Sharma M, Silburn PA, Tan EK, Wirdefeldt K, Ioannidis JP, Sutherland GT, Siebert GA. Theuns J, Crosiers D, Pickut B, Pals P, Engelborghs S, Nuytemans K, De Deyn PP, Cras P, Agid Y, Bonnet AM, Borg M, Brice A, Broussolle E, Damier P, Destee A, Durr A, Durif F, Lesage S, Lohmann E, Pollak P, Rascol O, Tison F, Tranchant C, Viallet F, Vidailhet M, Tzourio C, Amouyel P, Loriot MA, Gasser T, Riess O, Berg D, Schulte C, Klein C, Djarmati A, Lohmann K, Xiromerisiou G, Dardiotis E, Kountra P, Hattori N, Tomiyama H, Funayama M, Yoshino H, Li Y, Valente EM, FerraBentivoglio AR, Ialongo T, Riva C, Corradi B, Opala G, Myga BJ, Duda GK, Jedynak MB, Belin AC, Galter LD, Westerlund M, Sydow O, Nilsson C, Puschmann A, Maraganore DM, Ahlskog Mariza de Andrade JE, Lesnick TG, Rocca WA, Checkoway H
    • Journal Title

      Am J Med Genet B Neuropsychiatr Genet

      Volume: 153B(1) Pages: 220-8

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease2009

    • Author(s)
      Satake W, Nakabayashi Y, Mizuta I, Hirota Y, Ito C, Kubo M, Kawaguchi T, Tsunoda T, Watanabe M, Takeda A, Tomiyama H, Nakashima K, Hasegawa K, Obata F, Yoshikawa T, Kawakami H, Sakoda S, Yamamoto M, Hattori N, Murata M, Nakamura Y, Toda T
    • Journal Title

      Nature Genet

      Volume: 41 Pages: 1303-7

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype2009

    • Author(s)
      Pirkevi C, Lesage S, Condroyer C, Tomiyama H, et al.
    • Journal Title

      Neurogenetics 10

      Pages: 271-273

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mutation analysis for DJ-1 in sporadic and familial parkinsonism : Screening strategy in parkinsonism2009

    • Author(s)
      Tomiyama H, Li Y, Yoshino H, Mizuno Y, Kubo S, et al.
    • Journal Title

      Neuroscience Letters 455

      Pages: 159-161

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease2009

    • Author(s)
      Satake W, Nakabayashi Y, Mizuta I, Hirota Y, Ito C, Kubo M, Kawaguchi T, Tsunoda T, Watanabe M, Takeda A, Tomiyama H, et al.
    • Journal Title

      Nature Genetics (in press)

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Preserved cardiac 123I-MIBG uptake and lack of severe autonomic dysfunction in a PARK9 patient2009

    • Author(s)
      Kanai K, Asahina M, Arai K, Tomiyama H, Kuwabara Y, Uchiyama T, Sekiguchi Y, Funayama M, Kuwabara S, Hattori N, Hattori T.
    • Journal Title

      Movement Disorders 24

      Pages: 1403-4

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease : Large-scale collaborative study2009

    • Author(s)
      Evangelou E, Maraganore DM, Annesi G, Brighina L, Brice A, Elbaz A, Ferrarese C, Hadjigeorgiou GM, Krueger R, et al
    • Journal Title

      Am J Med Genet B Neuropsychiatr Genet (in press)

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Evaluation of the genetic contribution of Omi/HtrA2 to Parkinson disease in a large collaborative study2009

    • Author(s)
      Kruger R, Sharma M, Riess O, Gasser T, van Broeckhoven C, Aasly J, Annesi G, Bentivoglio, AR Brice A, Elbaz A, Farrer M, Ferrarese C, Ferraris A, Hadjigeorgiou GM, Hattori N, Tomiyama H, et al.
    • Journal Title

      Neurobiol Aging (in press)

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Pseudo-heterozygous rearrangement mutation of parkin

    • Author(s)
      Funayama M, Yoshino H, Li Y, Kusaka H, Tomiyama H, Hattori N
    • Journal Title

      Mov Disord

      Volume: (in press)

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Visual grasping in FTDP-17 (MAPT)-A comparison of ^<123>I-IMP brain perfusion SPECT analysis with PSP-.

    • Author(s)
      Ogaki K, Motoi Y, Li Y, Tomiyama H, et al.
    • Journal Title

      Mov Disord

      Volume: (in press)

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] PLA2G6 variant in Parkinson's disease.

    • Author(s)
      Tomiyama H, Yoshino H, Ogaki K, Li L, et al.
    • Journal Title

      J Hum Genet

      Volume: (in press)

    • NAID

      10030659472

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Presentation] Perry症候群の診断基準案作成と疫学調査について2011

    • Author(s)
      富山弘幸, 李林, 中尾紘一, 京楽格, 栗崎玲一, 李元哲, 舩山学, 吉野浩代, 音成龍司, 坪井義夫, 服部信孝
    • Organizer
      平成23年度神経変性疾患に関する調査研究班
    • Place of Presentation
      東京
    • Year and Date
      2011-12-16
    • Related Report
      2011 Annual Research Report 2011 Final Research Report
  • [Presentation] 日本人パーキンソニズム症例におけるDCTN1解析2011

    • Author(s)
      富山弘幸, 李林, 中尾紘一, 京楽格, 栗崎玲一, 李元哲, 舩山学, 吉野浩代, 音成龍司, 坪井義夫, 服部信孝
    • Organizer
      日本人類遺伝学会総会
    • Place of Presentation
      東京
    • Year and Date
      2011-11-12
    • Related Report
      2011 Annual Research Report 2011 Final Research Report
  • [Presentation] PLA2G6 in patients with Parkinson's disease/frontotemporal type of dementia2011

    • Author(s)
      H. Tomiyama, H. Yoshino, K. Ogaki, L. Li, C. Yamashita, Y. Li, M. Funayama, R. Sasaki, Y. Kokubo, S. Kuzuhara, and N. Hattori
    • Organizer
      The 12th International Congress of Human Genetics, ICHG and the American Society of Human Genetics, ASHG 61st Annual Meeting
    • Place of Presentation
      Montreal, Canada
    • Year and Date
      2011-10-14
    • Related Report
      2011 Annual Research Report 2011 Final Research Report
  • [Presentation] Analysis of the FBXO7 gene in early-onset parkinsonism2011

    • Author(s)
      Y. Li, M. Funayama, H. Yoshino, H. Tomiyama, N. Hattori
    • Organizer
      The 12th International Congress of Human Genetics, ICHG and the American Society of Human Genetics, ASHG 61st Annual Meeting
    • Place of Presentation
      Montreal, Canada
    • Year and Date
      2011-10-14
    • Related Report
      2011 Final Research Report
  • [Presentation] Japanese subsequent GWAS identifies strong association at a novel risk locus and MCCC1 for Parkinson's disease2011

    • Author(s)
      W. Satake, K. Yamamoto, Y. Nakabayashi, M. Kubo, T. Morizono, T. Kawaguchi, T. Tsunoda, H. Tomiyama, M. Yamamoto, N. Hattori, M. Murata, Y. Nakamura, T. Toda
    • Organizer
      The 12th International Congress of Human Genetics, ICHG and the American Society of Human Genetics, ASHG 61st Annual Meeting
    • Place of Presentation
      Montreal, Canada
    • Year and Date
      2011-10-14
    • Related Report
      2011 Final Research Report
  • [Presentation] Analyses of compound heterozygous rearrangements of parkin2011

    • Author(s)
      M. Funayama, H. Kusaka, H. Yoshino, Y. Li, K. Ogaki, H. Tomiyama, N. Hattori
    • Organizer
      The 12th International Congress of Human Genetics, ICHG and the American Society of Human Genetics, ASHG 61st Annual Meeting
    • Place of Presentation
      Montreal, Canada
    • Year and Date
      2011-10-14
    • Related Report
      2011 Final Research Report
  • [Presentation] Clinicogenetic study of patients with FTDP-17(MAPT) in Japan2011

    • Author(s)
      K. Ogaki, Y. Li, M. Takanashi, K. Ishikawa, T. Kobayashi, A. Nakanishi, T. Nonaka, M. Hasegawa, M. Kishi, H. Yoshino, M. Funayama, K. Shioya, M. Yokochi, R. Sasaki, Y. Kokubo, S. Kuzuhara, Y. Motoi, H. Tomiyama, N. Hattori
    • Organizer
      The 12th International Congress of Human Genetics, ICHG and the American Society of Human Genetics, ASHG 61st Annual Meeting
    • Place of Presentation
      Montreal, Canada
    • Year and Date
      2011-10-14
    • Related Report
      2011 Final Research Report
  • [Presentation] パーキンソニズムにおけるDCTN1解析-Perry症候群とパーキンソン病の異同について2011

    • Author(s)
      富山弘幸, 李林, 中尾紘一, 京楽格, 栗崎玲一, 李元哲, 舩山学, 吉野浩代, 音成龍司, 坪井義夫, 服部信孝
    • Organizer
      第5回パーキンソン病・運動障害疾患コングレス
    • Place of Presentation
      東京
    • Year and Date
      2011-10-08
    • Related Report
      2011 Annual Research Report 2011 Final Research Report
  • [Presentation] α-synucleinopathyと遺伝子変異2011

    • Author(s)
      富山弘幸
    • Organizer
      Japanese Consortium for Age-related Neurodegenerative disorders, JCAN
    • Place of Presentation
      東京
    • Year and Date
      2011-08-27
    • Related Report
      2011 Annual Research Report
  • [Presentation] 日本人パーキンソニズムにおけるDCTN1変異解析-Perry症候群について2011

    • Author(s)
      富山弘幸, 李林, 中尾紘一, 京楽格, 栗崎玲一, 李元哲, 舩山学, 吉野浩代, 音成龍司, 坪井義夫, 服部信孝
    • Organizer
      第52回日本神経学会学術大会
    • Place of Presentation
      名古屋
    • Year and Date
      2011-05-18
    • Related Report
      2011 Final Research Report
  • [Presentation] 日本人パーキンソニズムにおけるDCTN1び変異解析-Perry症候群について2011

    • Author(s)
      富山弘幸, 他
    • Organizer
      第52回日本神経学会学術大会
    • Place of Presentation
      名古屋
    • Year and Date
      2011-05-18
    • Related Report
      2011 Annual Research Report
  • [Presentation] 若年性パーキンソニズム症例におけるPLA2G6(PARK14)変異解析2010

    • Author(s)
      吉野浩代, 富山弘幸, 立花直子, 大垣光太郎, 李元哲, 舩山学, 橋本隆男, 高嶋修太郎, 服部信孝
    • Organizer
      平成22年度神経変性疾患に関する調査研究班
    • Place of Presentation
      東京
    • Year and Date
      2010-12-18
    • Related Report
      2011 Final Research Report
  • [Presentation] 若年性パーキンソニズム症例におけるPLA2G6(PARK14)変異解析2010

    • Author(s)
      吉野浩代, 富山弘幸, 立花直子, 大垣光太郎, 李元哲, 舩山学, 橋本隆男, 高嶋修太郎, 服部信孝
    • Organizer
      神経変性疾患に関する調査研究班
    • Place of Presentation
      東京
    • Year and Date
      2010-12-18
    • Related Report
      2010 Annual Research Report
  • [Presentation] パーキンソン病におけるPLA2G6 p. P806R2010

    • Author(s)
      富山弘幸, 吉野浩代, 大垣光太郎, 李林, 李元哲, 舩山学, 佐々木良元, 小久保康昌, 葛原茂樹, 服部信孝
    • Organizer
      日本人類遺伝学会総会
    • Place of Presentation
      大宮
    • Year and Date
      2010-10-29
    • Related Report
      2011 Final Research Report
  • [Presentation] パーキンソン病におけるPLA2G6 p.P806R.2010

    • Author(s)
      富山弘圭, 吉野浩代, 大垣光太郎, 李林, 李元哲, 舩山学, 佐々木良元, 小久保康昌, 葛原茂樹, 服部信孝
    • Organizer
      日本人類遺伝学会総会
    • Place of Presentation
      大宮
    • Year and Date
      2010-10-29
    • Related Report
      2010 Annual Research Report
  • [Presentation] 遺伝的見地から見たパーキンソン病2010

    • Author(s)
      富山弘幸
    • Organizer
      浜松パーキンソン病講演会
    • Place of Presentation
      浜松
    • Year and Date
      2010-10-26
    • Related Report
      2010 Annual Research Report
  • [Presentation] 孤発性パーキンソン病におけるPLA2G6 p. P806R2010

    • Author(s)
      富山弘幸, 吉野浩代, 大垣光太郎, 李林, 李元哲, 舩山学, 佐々木良元, 小久保康昌, 葛原茂樹, 服部信孝
    • Organizer
      第4回MDSJパーキンソン病・運動障害疾患コングレス
    • Place of Presentation
      京都
    • Year and Date
      2010-10-08
    • Related Report
      2011 Final Research Report
  • [Presentation] 孤発性パーキンソン病におけるPLA2G6 p.P806R.2010

    • Author(s)
      富山弘幸, 吉野浩代, 大垣光太郎, 李林, 李元哲, 舩山学, 佐々木良元, 小久保康昌, 葛原茂樹, 服部信孝
    • Organizer
      第4回MDSJ学術集会
    • Place of Presentation
      京都
    • Year and Date
      2010-10-08
    • Related Report
      2010 Annual Research Report
  • [Presentation] 日本人におけるIGYF2の変異解析2010

    • Author(s)
      李林, 舩山学, 李元哲, 今道洋子, 吉野浩代, 富山弘幸, 水野美邦, 服部信孝
    • Organizer
      第51回日本神経学会総会
    • Place of Presentation
      東京
    • Year and Date
      2010-05-20
    • Related Report
      2011 Final Research Report
  • [Presentation] パーキンソン病におけるDJ-1変異解析:常染色体劣性遺伝性パーキンソニズムにおけるスクリーニング法について2009

    • Author(s)
      富山弘幸, 李元哲, 吉野浩代, 舩山学, 久保紳一郎, 水野美邦, 戸田達史, 服部信孝
    • Organizer
      MDSJ
    • Place of Presentation
      東京
    • Year and Date
      2009-10-10
    • Related Report
      2011 Final Research Report
  • [Presentation] パーキンソン病におけるDL-1変異解析:常染色体劣性遺伝性パーキンソニズムにおけるスクリーニング法について2009

    • Author(s)
      富山弘幸, 李元哲, 吉野浩代, 舩山学, 久保紳一郎, 水野美邦, 戸田達史, 服部信孝
    • Organizer
      MDSJ
    • Place of Presentation
      東京
    • Year and Date
      2009-10-08
    • Related Report
      2009 Annual Research Report
  • [Presentation] パーキンソン病におけるLRRK2 P755L変異2009

    • Author(s)
      富山弘幸, 水田依久子, 李元哲, 舩山学, 吉野浩代, 李林, 村田美穂, 山本光利, 久保紳一郎, 水野美邦, 戸田達史, 服部信孝
    • Organizer
      日本人類遺伝学会
    • Place of Presentation
      東京
    • Year and Date
      2009-09-24
    • Related Report
      2011 Final Research Report
  • [Presentation] Hi-Res Melting 法をもちいたATP13A2 A746T多型の高速解析2009

    • Author(s)
      舩山学, 富山弘幸, 柳瀬貴章, 吉野浩代, 水野美邦, 服部信孝
    • Organizer
      日本人類遺伝学会
    • Place of Presentation
      東京
    • Year and Date
      2009-07-25
    • Related Report
      2009 Annual Research Report
  • [Presentation] 孤発性パーキンソン病におけるLRRK2 P755L変異2009

    • Author(s)
      富山弘幸, 水田依久子, 李元哲, 舩山学, 吉野浩代, 李林, 村田美穂, 山本光利, 久保紳一郎, 水野美邦, 戸田達史, 服部信孝
    • Organizer
      日本人類遺伝学会
    • Place of Presentation
      東京
    • Year and Date
      2009-07-24
    • Related Report
      2009 Annual Research Report
  • [Presentation] パーキンソン病原因遺伝子の大規模変異解析2009

    • Author(s)
      吉野浩代, 今道洋子, 李元哲, 関根威, 李林, 西岡健弥, 大垣光太郎, 舩山学, 富山弘幸, 水野美邦, 服部信孝
    • Organizer
      日本人類遺伝学会
    • Place of Presentation
      東京
    • Year and Date
      2009-07-24
    • Related Report
      2009 Annual Research Report
  • [Presentation] Mutation analysis for DJ-1 in parkinsonism : Screening strategy in autosomal recessive parkinsonism2009

    • Author(s)
      Tomiyama H, Li Y, Funayama M, Yoshino H, Kubo S, Mizuno Y, Toda T, Hattori N
    • Organizer
      4^<th> GEO-PD meeting
    • Place of Presentation
      Germany, Tubingen
    • Year and Date
      2009-07-06
    • Related Report
      2011 Final Research Report
  • [Presentation] Mutation analysis for DJ-1 in parkinsonism : Screening strategy in autosomal recessive parkinsonism2009

    • Author(s)
      富山弘幸, 李元哲, 舩山学, 吉野浩代, 久保紳一郎, 水野美邦, 戸田達史, 服部信孝
    • Organizer
      GEO-PD meeting
    • Place of Presentation
      Germany, Tubingen
    • Year and Date
      2009-07-06
    • Related Report
      2009 Annual Research Report
  • [Presentation] Glucocerebrosidase(GBA) mutations and familial Parkinson's disease in Japan2009

    • Author(s)
      Sekine T, Li L., Li Y, Imamichi Y, Yoshino H, Funayama M, Tomiyama H, Kubo S, Hattoi N
    • Organizer
      Movement Disorders
    • Place of Presentation
      Paris
    • Year and Date
      2009-06-11
    • Related Report
      2011 Final Research Report
  • [Presentation] LRRK2 P755L variant in Parkinson's disease2009

    • Author(s)
      Tomiyama H, Mizuta I, Li Y, Funayama M, Yoshino H, Li L, Murata M, Yamamoto M, Kubo S.-I., Mizuno Y, Toda T, Hattori N
    • Organizer
      Movement Disorders
    • Place of Presentation
      Paris
    • Year and Date
      2009-06-11
    • Related Report
      2011 Final Research Report
  • [Presentation] Preserved cardiac 123I-MIBG uptake and lack of severe autonomic dysfunction in a PARK9 patient2009

    • Author(s)
      Kanai K, Arai K, Asahina M, Tomiyama H, Kuwabara Y, Uchiyama T, Sekiguchi Y, Funayama M, Hattori N, Kuwabara S
    • Organizer
      Movement Disorders
    • Place of Presentation
      Paris
    • Year and Date
      2009-06-11
    • Related Report
      2011 Final Research Report
  • [Presentation] Different origins and demographic histories of the LRK2 G2019S mutation in Parkinson's disease2009

    • Author(s)
      Lesage S, Patin E, Condroyer C, Leutenegger A.-L, Lohmann E, Pollak P, Ouvrard-Hernandez A.-M., Bardien-Kruger S, Tomiyama H, Basak N, Durr A, Hattori N, Orr-Urtreger A, Tazir M, Quintana-Murci L, Brice A
    • Organizer
      Movement Disorders
    • Place of Presentation
      Paris
    • Year and Date
      2009-06-11
    • Related Report
      2011 Final Research Report
  • [Presentation] Different origins and demographic histories of the LRK2 G2019S mutation in Parkinson's disease2009

    • Author(s)
      Lesage S, Patin E, Condroyer C, Leutenegger A.-L, Lohmann E, Pollak P, Ouvrard-Hernandez A.-M., Bardien-Kruger S, Tomiyama H, et al.
    • Organizer
      Movement Disorders
    • Place of Presentation
      France, Paris
    • Year and Date
      2009-06-07
    • Related Report
      2009 Annual Research Report
  • [Presentation] Glucocerebrosidase(GBA)mutations and familial Parkinson's disease in Japan2009

    • Author(s)
      関根威, 李林, 李元哲, 今道洋子, 吉野浩代, 舩山学, 富山弘幸, 久保紳一郎, 服部信孝
    • Organizer
      Movement Disorders
    • Place of Presentation
      France, Paris
    • Year and Date
      2009-06-07
    • Related Report
      2009 Annual Research Report
  • [Presentation] LRR2 P755L variant in Parkinson's disease2009

    • Author(s)
      富山弘幸, 水田依久子, 李元哲, 舩山学, 吉野浩代, 李林, 村田美穂, 山本光利, 久保紳一郎, 水野美邦, 戸田達史, 服部信孝
    • Organizer
      Movement Disorders
    • Place of Presentation
      France, Paris
    • Year and Date
      2009-06-07
    • Related Report
      2009 Annual Research Report
  • [Presentation] Preserved cardiac 123I-MIBG uptake and lack of severe autonomic dysfunction in a PARK9 patient2009

    • Author(s)
      Kanai K, Arai K, Asahina M, Tomiyama H, Kuwabara Y, Uchiyama T, Sekiguchi Y, Funayama M, Hattori N, Kuwabara S.
    • Organizer
      Movement Disorders
    • Place of Presentation
      France, Paris
    • Year and Date
      2009-06-07
    • Related Report
      2009 Annual Research Report
  • [Presentation] Park2, DMDの欠失・重複は特定の領域に独立してランダムに集中する2009

    • Author(s)
      三井純, 高橋祐二, 富山弘幸, 石川俊平, 後藤順, 油谷浩幸, Brice Alexis, Smith David, 西野一三, 服部信孝, 辻省次
    • Organizer
      日本神経学会総会
    • Place of Presentation
      仙台
    • Year and Date
      2009-05-20
    • Related Report
      2011 Final Research Report
  • [Presentation] 孤発性パーキンソン病におけるLRRK2 P755L2009

    • Author(s)
      富山弘幸, 水田依久子, 李元哲, 舩山学, 吉野浩代, 李林, 村田美穂, 山本光利, 久保紳一郎, 水野美邦, 戸田達史, 服部信孝
    • Organizer
      日本神経学会総会
    • Place of Presentation
      仙台
    • Year and Date
      2009-05-20
    • Related Report
      2011 Final Research Report
  • [Presentation] 孤発性パーキンソン病における LRRK2 P755L2009

    • Author(s)
      富山弘幸, 水田依久子, 李元哲, 舩山学, 吉野浩代, 李林, 村田美穂, 山本光利, 久保紳一郎, 水野美邦, 戸田達史, 服部信孝
    • Organizer
      2009日本神経学会総会
    • Place of Presentation
      宮城県仙台市
    • Year and Date
      2009-05-20
    • Related Report
      2009 Annual Research Report
  • [Presentation] Parkin遺伝子とPINK1遺伝子の変異を持ちMIBG心筋シンチが正常の家族性パーキンソン病2009

    • Author(s)
      野倉一也, 清水穂高, 山本横子, 富山弘幸, 舩山学, 服部信孝
    • Organizer
      日本神経学会東海北陸地方会
    • Year and Date
      2009-04-22
    • Related Report
      2011 Final Research Report
  • [Presentation] FTDP-17の一症例2009

    • Author(s)
      塩屋敬一, 斉田和子, 杉本精一郎, 比嘉利信, 富山弘幸, 服部信孝
    • Organizer
      日本神経学会九州地方会
    • Place of Presentation
      九州
    • Year and Date
      2009-03-29
    • Related Report
      2011 Final Research Report
  • [Book] パーキンソン病の基礎研究最前線:実地医家のためのminimum requirement. Modern Physician2012

    • Author(s)
      舩山学, 富山弘幸
    • Publisher
      新興医学出版社
    • Related Report
      2011 Final Research Report
  • [Book] 遺伝的因子,遺伝学的見地からのパーキンソン病update-パーキンソン病にどこまで遺伝的要因が関与しているか?-.パーキンソン病(臨床の諸問題2)2010

    • Author(s)
      富山弘幸
    • Publisher
      中外医学社
    • Related Report
      2011 Final Research Report
  • [Book] パーキンソン病(臨床の諸問題2).遺伝的因子,遺伝学的見地からのパーキンソン病update-パーキンソン病にどこまで遺伝的要因が関与しているか?-2010

    • Author(s)
      富山弘幸
    • Total Pages
      29
    • Publisher
      中外医学社
    • Related Report
      2010 Annual Research Report
  • [Book] パーキンソン病の発症に遺伝子の関与はあるのか?:いきなり名医!パーキンソン病Q & A-押さえておくべきポイント2009

    • Author(s)
      富山弘幸
    • Publisher
      日本医事新報
    • Related Report
      2011 Final Research Report
  • [Book] パーキンソン病の発症に遺伝子の関与はあるのか? :いきなり名医! パーキンソン病Q&A-押さえておくべきポイント332009

    • Author(s)
      富山弘幸
    • Total Pages
      6
    • Publisher
      日本医事新報
    • Related Report
      2009 Annual Research Report
  • [Remarks] 順天堂大学医学部脳神経内科ホームページに一部研究業績掲載

    • URL

      http://www.juntendo-neurology.com/

    • Related Report
      2011 Final Research Report

URL: 

Published: 2009-04-01   Modified: 2016-04-21  

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