Clinical and genetic study in ataxia-oculomotor apraxia type 2

被引：0
|
作者：
Bonato, S.
D'Angelo, M. G.
Gandossini, S.
Airoldi, G.
Turconi, A. C.
Bassi, M. T.
Bresolin, N.
机构：
[1] IRCCS E Medea, Bosisio Parini, Italy
[2] IRCCS Fdn Policlin, Milan, Italy
来源：
JOURNAL OF NEUROLOGY | 2009年 / 256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：
引用
收藏
页码：S155 / S156
页数：2
相关论文
共 50 条
  • [41] Cerebellar ataxia with oculomotor apraxia type 1: clinical study and aprataxin gene mutations in two families
    Mariotti, C
    Caimi, S
    Granata, T
    Castellotti, B
    Gellera, C
    Taroni, F
    Di Donato, S
    JOURNAL OF NEUROLOGY, 2004, 251 : 49 - 50
  • [42] Ataxia with oculomotor apraxia type 2 (AOA2): an eye movement study of two siblings
    Bargagli, A.
    Rosini, F.
    Zanca, D.
    Serchi, V.
    Rufa, A.
    NEUROLOGICAL SCIENCES, 2021, 42 (07) : 3039 - 3042
  • [43] Ataxia with oculomotor apraxia type 2 (AOA2): an eye movement study of two siblings
    A. Bargagli
    F. Rosini
    D. Zanca
    V. Serchi
    A. Rufa
    Neurological Sciences, 2021, 42 : 3039 - 3042
  • [44] Clinical and Molecular Findings of Ataxia With Oculomotor Apraxia Type 2 (AOA2) in 5 Tunisian Families
    Hammer, Monia Benhamed
    El Euch-Fayache, Ghada
    Nehdi, Houda
    Saidi, Dalel
    Nasri, Amira
    Nabli, Fatma
    Bouhlal, Yosr
    Maamouri-Hicheri, Wieme
    Hentati, Faycal
    Amouri, Rim
    DIAGNOSTIC MOLECULAR PATHOLOGY, 2012, 21 (04) : 241 - 245
  • [45] 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
  • [46] Ataxia with oculomotor apraxia type 2. Novel mutations in the senataxin gene
    Gonzalez, M. P. S.
    Lindenbaum, S.
    Ferrari, J. C.
    Knorre, E. F.
    Leguizamon, F.
    MOVEMENT DISORDERS, 2014, 29 : S472 - S472
  • [47] 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
  • [48] Aberrant Splicing of the Senataxin Gene in a Patient with Ataxia with Oculomotor Apraxia Type 2
    Fogel, Brent L.
    Lee, Ji Yong
    Perlman, Susan
    CEREBELLUM, 2009, 8 (04): : 448 - 453
  • [49] 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
  • [50] Aberrant Splicing of the Senataxin Gene in a Patient with Ataxia with Oculomotor Apraxia Type 2
    Brent L. Fogel
    Ji Yong Lee
    Susan Perlman
    The Cerebellum, 2009, 8 : 448 - 453
12345