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
  • [1] A novel SETX gene mutation producing ataxia with oculomotor apraxia type 2
    Laszlo Szpisjak
    Izabella Obal
    Jozsef I. Engelhardt
    Laszlo Vecsei
    Peter Klivenyi
    Acta Neurologica Belgica, 2016, 116 : 405 - 407
  • [2] A novel SETX gene mutation producing ataxia with oculomotor apraxia type 2
    Szpisjak, Laszlo
    Obal, Izabella
    Engelhardt, Jozsef I.
    Vecsei, Laszlo
    Klivenyi, Peter
    ACTA NEUROLOGICA BELGICA, 2016, 116 (03) : 405 - 407
  • [3] Levodopa responsive dystonia in ataxia with oculomotor apraxia with a novel heterozygous SETX mutation
    Siddiqui, J. H.
    Gunzler, S. A.
    MOVEMENT DISORDERS, 2013, 28 : S242 - S242
  • [4] Biallelic Mutation of SETX and Additional Likely "In Cis" SETX Sequence Change in Ataxia with Oculomotor Apraxia Type 2
    Perry, Michael D.
    Evans, Martin J.
    Byrd, Philip J.
    Taylor, Malcolm R.
    JOURNAL OF PEDIATRIC GENETICS, 2021, 10 (04) : 311 - 314
  • [5] Germ cell arrest associated with a SETX mutation in ataxia oculomotor apraxia type 2
    Catford, S. R.
    OBryan, M. K.
    McLachlan, R., I
    Delatycki, M. B.
    Rombauts, L.
    REPRODUCTIVE BIOMEDICINE ONLINE, 2019, 38 (06) : 961 - 965
  • [6] Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4
    Schiess, Nicoline
    Zee, David S.
    Siddiqui, Khurram A.
    Szolics, Miklos
    El-Hattab, Ayman W.
    JOURNAL OF NEUROGENETICS, 2017, 31 (1-2) : 23 - 25
  • [7] Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review
    Chen, Shuaishuai
    Du, Juping
    Jiang, Huihua
    Zhao, Weibo
    Wang, Na
    Ying, Anna
    Li, Jun
    Chen, Shiyong
    Shen, Bo
    Zhou, Yuanlin
    FRONTIERS IN MOLECULAR NEUROSCIENCE, 2022, 15
  • [8] Two novel mutations of the SETX gene and ataxia with oculomotor apraxia type 2
    Pera, Joanna
    Lechner, Sarah
    Biskup, Saskia
    Strach, Magdalena
    Grodzicki, Tomasz
    Slowik, Agnieszka
    CLINICAL NEUROLOGY AND NEUROSURGERY, 2015, 128 : 44 - 46
  • [9] A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2
    Tariq, Huma
    Imran, Rashid
    Naz, Sadaf
    JOURNAL OF CLINICAL NEUROLOGY, 2018, 14 (04): : 498 - 504
  • [10] Ataxia with oculomotor apraxia type 2 and neuronopathy in two siblings with a novel mutation in the senataxin gene
    Gazulla, J.
    Benavente, I.
    Perez-Lopez, I.
    Modrego, P. J.
    Koenig, M.
    MOVEMENT DISORDERS, 2008, 23 (11) : 1631 - 1631