Analysis of CIZ1 and GNAL genes mutation in Taiwanese patients with primary torsion dystonia

被引：0
|
作者：
Huang, C. -L.
Lai, S. -C.
Chang, H. -C.
Yeh, T. -H.
Lu, C. -S.
机构：
来源：
MOVEMENT DISORDERS | 2014年 / 29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：
1375
引用
收藏
页码：S504 / S505
页数：2
相关论文
共 50 条
  • [21] Mutation in GNAL not found in ten adult-onset primary cervical dystonia families in China
    Ma, L.
    Wan, X.
    Wang, L.
    Yang, Y.
    MOVEMENT DISORDERS, 2013, 28 : S21 - S22
  • [22] TOR1A, THAP1, and GNAL Mutational Screening in Austrian Patients With Primary Isolated Dystonia
    Zech, Michael
    Boesch, Sylvia
    Sycha, Thomas
    Mueller, Joerg
    Poewe, Werner
    Winkelmann, Juliane
    MOVEMENT DISORDERS, 2015, 30 (13) : 1853 - 1854
  • [23] Mutational analysis of GNAL gene in isolated dystonia patients from Spain
    Gomez-Garre, P.
    Huertas-Fernandez, I.
    Caceres-Redondo, M. T.
    Alonso-Canovas, A.
    Bernal-Bernal, I.
    Blanco-Ollero, A.
    Bonilla-Toribio, M.
    Burguera, J. A.
    Carballo, M.
    Carrillo, F.
    Catalan-Alonso, M. J.
    Escamilla-Sevilla, F.
    Espinosa-Rosso, R.
    Fernandez-Moreno, M. C.
    Garcia-Caldentey, J.
    Garcia-Moreno, J. M.
    Giacometti-Silveira, S.
    Gutierrez-Garcia, J.
    Jesus-Maestre, S.
    Lopez-Valdes, E.
    Martinez-Castrillo, J. C.
    Medialdea-Natera, M. P.
    Mendez-Lucena, C.
    Minguez-Castellanos, A.
    Moya, M.
    Ochoa-Sepulveda, J. J.
    Ojea, T.
    Rodriguez, N.
    Rubio-Agusti, I.
    Sillero-Sanchez, M.
    del Val, J.
    Vargas-Gonzalez, L.
    Mir, P.
    MOVEMENT DISORDERS, 2016, 31 : S199 - S199
  • [24] Frequency of the DYT1 mutation in primary torsion dystonia without family history
    Brassat, D
    Camuzat, A
    Vidailhet, M
    Feki, I
    Jedynak, P
    Klap, P
    Agid, Y
    Dürr, A
    Brice, A
    ARCHIVES OF NEUROLOGY, 2000, 57 (03) : 333 - 335
  • [25] DYT1 mutation in Korean primary dystonia patients
    Im, JH
    Ahn, TB
    Kim, KB
    Ko, SB
    Jeon, BS
    PARKINSONISM & RELATED DISORDERS, 2004, 10 (07) : 421 - 423
  • [26] Mutation analysis of the EXT genes in Taiwanese patients with hereditary multiple exostoses
    Tsai, F
    Shi, Y
    Wu, J
    Tsai, C
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 : 236 - 236
  • [27] Striatal dopamine in early-onset primary torsion dystonia with the DYT1 mutation
    Furukawa, Y
    Hornykiewicz, O
    Fahn, S
    Kish, SJ
    NEUROLOGY, 2000, 54 (05) : 1193 - 1195
  • [28] GENETIC-LINKAGE ANALYSIS IN PRIMARY TORSION DYSTONIA
    BRESSMAN, SB
    FAHN, S
    FALK, C
    ALLEN, FH
    SUCIUFOCA, N
    NEUROLOGY, 1984, 34 (11) : 1490 - 1493
  • [29] Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function
    dos Santos, Camila Oliveira
    Masuho, Ikuo
    da Silva-Junior, Francisco Pereira
    Barbosa, Egberto Reis
    Cesar Azevedo Silva, Sonia Maria
    Borges, Vanderci
    Ferraz, Henrique Ballalai
    Guimaraes Rocha, Maria Sheila
    Papaterra Limongi, Joao Carlos
    Martemyanov, Kirill A.
    Aguiar, Patricia de Carvalho
    JOURNAL OF NEUROLOGY, 2016, 263 (04) : 665 - 668
  • [30] Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function
    Camila Oliveira dos Santos
    Ikuo Masuho
    Francisco Pereira da Silva-Júnior
    Egberto Reis Barbosa
    Sonia Maria Cesar Azevedo Silva
    Vanderci Borges
    Henrique Ballalai Ferraz
    Maria Sheila Guimarães Rocha
    João Carlos Papaterra Limongi
    Kirill A. Martemyanov
    Patricia de Carvalho Aguiar
    Journal of Neurology, 2016, 263 : 665 - 668
12345