SCA8 expansion in the Spanish population including one homozygous patient.

被引:0
|
作者
Mila, M
Tazon, B
Muñoz, E
Jimenez, D
Badenas, C
机构
[1] Hosp Clin Barcelona, Serv Genet, E-08036 Barcelona, Spain
[2] Hosp Clin Barcelona, Serv Neurol, E-08036 Barcelona, Spain
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
2773
引用
收藏
页码:652 / 652
页数:1
相关论文
共 34 条
  • [1] SCA8 in the Spanish population including one homozygous patient
    Tazón, B
    Badenas, C
    Jiménez, L
    Muñoz, E
    Milà, M
    CLINICAL GENETICS, 2002, 62 (05) : 404 - 409
  • [2] Screening of the SCA8 expansion.
    Durr, A
    Stevanin, G
    Herman, A
    Lebre, AS
    Frontali, M
    Brice, A
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A247 - A247
  • [3] Bidirectional expression of the SCA8 expansion mutation: One mutation, two genes
    Ikeda, Yoshio
    Daughters, Randy S.
    Ranum, Laura P. W.
    CEREBELLUM, 2008, 7 (02): : 150 - 158
  • [4] Bidirectional expression of the SCA8 expansion mutation: One mutation, two genes
    Yoshio Ikeda
    Randy S. Daughters
    Laura P. W. Ranum
    The Cerebellum, 2008, 7 : 150 - 158
  • [5] Novel neuronal cytoplasmic inclusions in a patient carrying SCA8 expansion mutation
    Yokoyama, Teruo
    Ishiyama, Miyako
    Hasegawa, Kazuko
    Uchihara, Toshiki
    Yagishita, Saburo
    NEUROPATHOLOGY, 2014, 34 (01) : 27 - 31
  • [6] Neuropathology in a patient with ataxia and the SCA8 genotype
    Factor, SA
    Qian, J
    Lava, NS
    MOVEMENT DISORDERS, 2003, 18 (09) : 1095 - 1095
  • [7] SCA8 repeat expansion coexists with SCA1 - Not only with SCA6
    Sulek, A
    Hoffman-Zacharska, D
    Zdzienicka, E
    Zaremba, J
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (04) : 972 - 974
  • [8] Plausible pathogenesis of SCA8 CTG trinucleotide repeats expansion
    Chen, I. C.
    Shiau, H. C.
    Lin, H. Y.
    Kao, S. H.
    Chen, C. M.
    Lee-Chen, G. J.
    INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, 2006, 24 (08) : 538 - 538
  • [9] Screening of an Azorean population with major psychoses at the triplet repeat expansion associated loci SCA8, SCA17 and SCA1
    Fortune, T
    Pato, CN
    Pato, MT
    Azevedo, MH
    Kennedy, JL
    Vincent, JB
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 521 - 521
  • [10] Molecular genetic and epigenetic studies of SCA8 CTG repeat expansion
    Lee-Chen, G. J.
    Huang, S. Y.
    Li, M. L.
    Wu, Y. R.
    Chen, C. M.
    INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, 2006, 24 (08) : 538 - 538