Ataxia with(out) oculomotor apraxia: A unique SETX mutation in 3 siblings

被引:0
|
作者
Bulica, B.
Khemani, P.
Kuhlman, A.
Patel, N.
机构
关键词
SENATAXIN; TYPE-2;
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
242
引用
收藏
页码:S99 / S100
页数:2
相关论文
共 50 条
  • [41] Nigrostriatal involvement in ataxia with oculomotor apraxia type 1
    Salvatore, Elena
    Varrone, Andrea
    Criscuolo, Chiara
    Mancini, Pietro
    Sansone, Valeria
    Strisciuglio, Caterina
    Cicala, Domenico
    Scarano, Valentina
    Salvatore, Marco
    Pappata, Sabina
    De Michele, Giuseppe
    Filla, Alessandro
    JOURNAL OF NEUROLOGY, 2008, 255 (01) : 45 - 48
  • [42] Sensory neuronopathy in ataxia with oculomotor apraxia type 2
    Gazulla, Jose
    Benavente, Isabel
    Perez Lopez-Fraile, Isabel
    Tordesillas, Carlos
    Modrego, Pedro
    Alonso, Isabel
    Pinto-Basto, Jorge
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2010, 298 (1-2) : 118 - 120
  • [43] A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2)
    Katsuya Nakamura
    Kunihiro Yoshida
    Hideo Makishita
    Eiko Kitamura
    Shiori Hashimoto
    Shu-ichi Ikeda
    Journal of Human Genetics, 2009, 54 : 746 - 748
  • [44] A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2)
    Nakamura, Katsuya
    Yoshida, Kunihiro
    Makishita, Hideo
    Kitamura, Eiko
    Hashimoto, Shiori
    Ikeda, Shu-ichi
    JOURNAL OF HUMAN GENETICS, 2009, 54 (12) : 746 - 748
  • [45] Ataxia with oculomotor apraxia type 1 associated with mutation in the APTX gene: A case study and literature review
    Albaradie, Raidah
    Alharbi, Alanoud
    Alsaffar, Gada
    Alhamad, Bayader
    Bashir, Shahid
    EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2022, 24 (06)
  • [46] Ataxia with Oculomotor Apraxia Type 1 without Oculomotor Apraxia: A Case Report (vol 12, pg 126, 2016)
    Lee, Minwoo
    Kim, Nan Young
    Huh, Jin Young
    Kim, Young Eun
    Kim, Yun Joong
    JOURNAL OF CLINICAL NEUROLOGY, 2017, 13 (01): : 119 - 119
  • [47] Ataxia with oculomotor apraxia: Clinical genetic characteristics and DNA diagnosis
    Rudenskaya G.E.
    Kurkina M.V.
    Zakharova E.Yu.
    Neuroscience and Behavioral Physiology, 2013, 43 (9) : 1143 - 1149
  • [48] Ataxia with oculomotor apraxia type 2: not always an easy diagnosis
    Mignarri, A.
    Tessa, A.
    Federico, A.
    Santorelli, F. M.
    Dotti, Maria Teresa
    NEUROLOGICAL SCIENCES, 2015, 36 (08) : 1505 - 1507
  • [49] Ataxia with oculomotor apraxia type 2: not always an easy diagnosis
    A. Mignarri
    A. Tessa
    A. Federico
    F. M. Santorelli
    Maria Teresa Dotti
    Neurological Sciences, 2015, 36 : 1505 - 1507
  • [50] A Novel APTX Variant and Ataxia with Oculomotor Apraxia Type 1
    Manzoor, Humera
    Bukhari, Ihtisham
    Wajid, Muhammad
    Zhang, Yuanwei
    Zhang, Huan
    Brueggemann, Norbert
    Klein, Christine
    Shi, Qinghua
    Naz, Sadaf
    JOURNAL OF CLINICAL NEUROLOGY, 2017, 13 (03): : 303 - 305