Mutations in the THAP1 Gene are Responsible for Early Onset Primary Torsion Dystonia

被引:0
|
作者
Bressman, Susan
Saunders-Pullman, Rachel
Fuchs, Tania
Gavarini, Sophie
Raymond, Deborah
Ozelius, Laurie
机构
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:330 / 330
页数:1
相关论文
共 50 条
  • [1] Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
    Tania Fuchs
    Sophie Gavarini
    Rachel Saunders-Pullman
    Deborah Raymond
    Michelle E Ehrlich
    Susan B Bressman
    Laurie J Ozelius
    Nature Genetics, 2009, 41 : 286 - 288
  • [2] Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
    Fuchs, Tania
    Gavarini, Sophie
    Saunders-Pullman, Rachel
    Raymond, Deborah
    Ehrlich, Michelle E.
    Bressman, Susan B.
    Ozelius, Laurie J.
    NATURE GENETICS, 2009, 41 (03) : 286 - 288
  • [3] Novel THAP1 Mutations in Primary Dystonia
    Ledoux, Mark
    Xiao, Jianfeng
    Pfeiffer, Ronald F.
    Zhao, Yu
    Bastian, Robert
    Perlmutter, Joel S.
    Tabbal, Samer D.
    Karimi, Morvarid
    Paniello, Randal
    Racette, Brad A.
    Blitzer, Andrew
    Batish, Dev
    Simon, David K.
    Tarsy, Daniel
    Wszolek, Zbigniew K.
    Uitti, Ryan J.
    Van Gerpen, Jay A.
    Hedera, Peter
    Truong, Daniel D.
    Frei, Karen P.
    NEUROLOGY, 2009, 73 (04) : 331 - 331
  • [4] Homozygous THAP1 Mutations as Cause of Early-Onset Generalized Dystonia
    Schneider, Susanne
    Ramirez, Alfredo
    Shafiee, Kaveh
    Kaiser, Frank
    Erogullari, Alev
    Bruggemann, Norbert
    Winkler, Susen
    Bahman, Ideh
    Osmanovic, Alma
    Shafa, M.
    Bhatia, Kailash
    Najmabadi, Hossein
    Klein, Christine
    Lohmann, Katja
    NEUROLOGY, 2011, 76 (09) : A19 - A19
  • [5] Homozygous THAP1 Mutations as Cause of Early-Onset Generalized Dystonia
    Schneider, Susanne A.
    Ramirez, Alfredo
    Shafiee, Kaveh
    Kaiser, Frank J.
    Erogullari, Alev
    Brueggemann, Norbert
    Winkler, Susen
    Bahman, Ideh
    Osmanovic, Alma
    Shafa, Mohammad A.
    Bhatia, Kailish P.
    Najmabadi, Hossein
    Klein, Christine
    Lohmann, Katja
    MOVEMENT DISORDERS, 2011, 26 (05) : 858 - 861
  • [6] Novel THAP1 gene mutations in patients with primary dystonia from Southwest China
    Song, Wei
    Chen, YongPing
    Huang, Rui
    Chen, Ke
    Pan, PingLei
    Yang, Yuan
    Shang, Hui-Fang
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2011, 309 (1-2) : 63 - 67
  • [7] THAP1 mutations (DYT6) are an additional cause of early-onset dystonia
    Houlden, H.
    Schneider, S. A.
    Paudel, R.
    Melchers, A.
    Schwingenschuh, P.
    Edwards, M.
    Hardy, J.
    Bhatia, K. P.
    NEUROLOGY, 2010, 74 (10) : 846 - 850
  • [8] Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study
    Bressman, Susan B.
    Raymond, Deborah
    Fuchs, Tania
    Heiman, Gary A.
    Ozelius, Laurie
    Saunders-Pullman, Rachel
    LANCET NEUROLOGY, 2009, 8 (05): : 441 - 446
  • [9] Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype
    Clot, Fabienne
    Grabli, David
    Burbaud, Pierre
    Aya, Magali
    Derkinderen, Pascal
    Defebvre, Luc
    Damier, Philippe
    Krystkowiak, Pierre
    Pollak, Pierre
    Leguern, Eric
    San, Chan
    Camuzat, Agnes
    Roze, Emmanuel
    Vidailhet, Marie
    Durr, Alexandra
    Brice, Alexis
    NEUROGENETICS, 2011, 12 (01) : 87 - 89
  • [10] Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype
    Fabienne Clot
    David Grabli
    Pierre Burbaud
    Magali Aya
    Pascal Derkinderen
    Luc Defebvre
    Philippe Damier
    Pierre Krystkowiak
    Pierre Pollak
    Eric Leguern
    Chan San
    Agnès Camuzat
    Emmanuel Roze
    Marie Vidailhet
    Alexandra Durr
    Alexis Brice
    neurogenetics, 2011, 12 : 87 - 89