PENTANUCLEOTIDE REPEATS AT THE SPINOCEREBELLAR ATAXIA TYPE 31 (SCA31) LOCUS IN CAUCASIANS

被引：35
|
作者：
Ishikawa, K. [1 ]
Duerr, A. [2 ,3 ,4 ,5 ]
Klopstock, T. [6 ]
Mueller, S. [6 ]
De Toffol, B. [7 ]
Vidailhet, M. [2 ,3 ,4 ]
Vighetto, A. [8 ]
Marelli, C. [2 ,3 ,4 ,5 ]
Wichmann, H. -E. [9 ,10 ]
Illig, T. [11 ]
Niimi, Y.
Sato, N.
Amino, T.
Stevanin, G. [2 ,3 ,4 ,5 ,12 ]
Brice, A. [2 ,3 ,4 ,5 ]
Mizusawa, H.
机构：
[1] Tokyo Med & Dent Univ, Grad Sch, Dept Neurol & Neurol Sci, Bunkyo Ku, Tokyo 1138519, Japan
[2] Univ Paris 06, Ctr Rech Inst Cerveau & Moelle Epiniere, Paris, France
[3] INSERM, U975, Paris, France
[4] CNRS, UMR 7225, Paris, France
[5] Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, Paris, France
[6] Univ Munich, Dept Neurol, Friedrich Baur Inst, D-8000 Munich, Germany
[7] Dept Neurol, Tours, France
[8] Hop Neurol, Lyon, France
[9] German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Epidemiol 1, Neuherberg, Germany
[10] Univ Munich, Inst Med Informat Biometry & Epidemiol, Munich, Germany
[11] German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Unit Mol Epidemiol, Neuherberg, Germany
[12] Ecole Prat Hautes Etud, Paris, France
来源：
NEUROLOGY | 2011年 / 77卷 / 20期
基金：
日本学术振兴会;
关键词：
EXPANSIONS; MUTATIONS;
D O I：
10.1212/WNL.0b013e3182377e3a
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
[No abstract available]
引用
收藏
页码：1853 / 1855
页数：3
相关论文
共 50 条
  • [1] Diverse and Unstable Pentanucleotide Repeats at the Spinocerebellar Ataxia Type 31 (SCA31) Locus in Caucasians
    Ishikawa, Kinya
    Durr, Alexandra
    Klopstock, Thomas
    Sato, Nozomu
    Stevanin, Giovanni
    Brice, Alexis
    Mizusawa, Hidehiro
    NEUROLOGY, 2012, 78
  • [2] Spinocerebellar ataxia type 31 (SCA31)
    Kinya Ishikawa
    Journal of Human Genetics, 2023, 68 : 153 - 156
  • [3] Spinocerebellar ataxia type 31 (SCA31)
    Ishikawa, Kinya
    JOURNAL OF HUMAN GENETICS, 2023, 68 (03) : 153 - 156
  • [4] Molecular Mechanisms and Future Therapeutics for Spinocerebellar Ataxia Type 31 (SCA31)
    Kinya Ishikawa
    Yoshitaka Nagai
    Neurotherapeutics, 2019, 16 : 1106 - 1114
  • [5] Molecular Mechanisms and Future Therapeutics for Spinocerebellar Ataxia Type 31 (SCA31)
    Ishikawa, Kinya
    Nagai, Yoshitaka
    NEUROTHERAPEUTICS, 2019, 16 (04) : 1106 - 1114
  • [6] Insight Into Spinocerebellar Ataxia Type 31 (SCA31) From Drosophila Model
    Ishiguro, Taro
    Nagai, Yoshitaka
    Ishikawa, Kinya
    FRONTIERS IN NEUROSCIENCE, 2021, 15
  • [7] Spinocerebellar Ataxia Type 31 (SCA31) Is a Common Late-Onset Purely Cerebellar Ataxia
    Ishikawa, Kinya
    Niimi, Yusuke
    Sato, Nozomu
    Amino, Takeshi
    Matsuo, Hitomi
    Ishiguro, Taro
    Takahashi, Makoto
    Obayashi, Masato
    Mizusawa, Hidehiro
    NEUROLOGY, 2010, 74 (09) : A261 - A261
  • [8] A small molecule binding to TGGAA pentanucleotide repeats that cause spinocerebellar ataxia type 31
    Shibata, Tomonori
    Nakatani, Kazuhiko
    BIOORGANIC & MEDICINAL CHEMISTRY LETTERS, 2023, 79
  • [9] A Non-Coding Penta-Nucleotide Repeat Insertion Containing (TGGAA)n Is Associated with Spinocerebellar Ataxia Type 31 (SCA31)
    Sato, Nozomu
    Amino, Takeshi
    Ishikawa, Kinya
    Asakawa, Shuichi
    Ishiguro, Taro
    Takahashi, Makoto
    Shimizu, Nobuyoshi
    Tsuji, Shoji
    Mizusawa, Hidehiro
    NEUROLOGY, 2010, 74 (09) : A97 - A97
  • [10] The expanding world of spinocerebellar ataxia: pentanucleotide repeats expand in SCA10
    Andrew, SE
    CLINICAL GENETICS, 2001, 59 (02) : 80 - 81
12345