Two novel mutations of GTP cyclohydrolase I gene and genotype-phenotype correlation in Chinese dopa-responsive dystonia patients

被引：0
|
作者：
Yu, L.
Zhou, H.
Hu, F.
Xu, Y.
机构：
来源：
MOVEMENT DISORDERS | 2012年 / 27卷
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：
1124
引用
收藏
页码：S371 / S371
页数：1
相关论文
共 50 条
  • [21] A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping
    Skrygan, M
    Bartholomé, B
    Bonafé, L
    Blau, N
    Bartholomé, K
    JOURNAL OF INHERITED METABOLIC DISEASE, 2001, 24 (03) : 345 - 351
  • [22] Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia
    Furukawa, Y
    Lang, AE
    Trugman, JM
    Bird, TD
    Hunter, A
    Sadeh, M
    Tagawa, T
    St George-Hyslop, PH
    Guttman, M
    Morris, LW
    Hornykiewicz, O
    Shimadzu, M
    Kish, SJ
    NEUROLOGY, 1998, 50 (04) : 1015 - 1020
  • [23] A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes dopa-responsive dystonia in Chinese Han population
    Hu, F-Y.
    Xu, Y-M.
    Yu, L-H.
    Ma, M-Y.
    He, X-H.
    Zhou, D.
    EUROPEAN JOURNAL OF NEUROLOGY, 2011, 18 (02) : 362 - 364
  • [24] GTP-cyclohydrolase I gene mutations in hereditary progressive and dopa-responsive dystonia (vol 39, pg 609, 1996)
    Furukawa, Y
    ANNALS OF NEUROLOGY, 1996, 40 (01) : 134 - 134
  • [25] Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset
    Hirano, M
    Tamaru, Y
    Ito, H
    Matsumoto, S
    Imai, T
    Ueno, S
    ANNALS OF NEUROLOGY, 1996, 40 (05) : 796 - 798
  • [26] GTP cyclohydrolase 1-deficient dopa-responsive hereditary dystonia
    Teva Galan, M. D.
    Esteban Canto, V.
    Pico Alfonso, N.
    Jover Cerda, J.
    ANALES DE PEDIATRIA, 2011, 75 (01): : 55 - 57
  • [27] Parkinsonism in GTP cyclohydrolase 1-deficient DOPA-responsive dystonia
    Furukawa, Yoshiaki
    Kish, Stephen J.
    BRAIN, 2015, 138 : E351 - U18
  • [28] A novel missense mutation of the GTP cyclohydrolase 1 gene in a Taiwanese family with dopa-responsive dystonia: A case report
    Yang, Chen-Chih
    Wang, Wei-Chung
    Yeh, Tu-Hsueh
    Chen, Tzu-Hsuan
    Liu, Yen-Liang
    Lu, Ming-Kuei
    Lu, Chin-Song
    Tsai, Chon-Haw
    CLINICAL NEUROLOGY AND NEUROSURGERY, 2018, 165 : 21 - 23
  • [29] Four Novel Mutations in the GCH1 Gene of Chinese Patients with Dopa-Responsive Dystonia
    Cao, Li
    Zheng, Lan
    Tang, Wei-Guo
    Xiao, Qin
    Zhang, Ting
    Tang, Hui-Dong
    He, Song-Bin
    Wang, Xi-Jin
    Ding, Jian-Qing
    Chen, Sheng-Di
    MOVEMENT DISORDERS, 2010, 25 (06) : 755 - 760
  • [30] A new GTP-cyclohydrolase I mutation in an unusual dopa-responsive dystonia, familial form
    Brique, S
    Destée, A
    Lambert, JC
    Mouroux, V
    Delacourte, A
    Amouyel, P
    Chartier-Harlin, MC
    NEUROREPORT, 1999, 10 (03) : 487 - 491
12345