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
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
  • [1] ATAXIA-OCULOMOTOR APRAXIA SYNDROME
    GASCON, GG
    ABDO, N
    SIGUT, D
    HEMIDAN, A
    HANNAN, MA
    JOURNAL OF CHILD NEUROLOGY, 1995, 10 (02) : 118 - 122
  • [2] Atypical presentation of ataxia-oculomotor apraxia type 1
    Shahwan, Amre
    Byrd, Philip J.
    Taylor, A. Malcolm R.
    Nestor, Therese
    Ryan, Stephanie
    King, Mary D.
    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2006, 48 (06): : 529 - 532
  • [3] Ataxia with oculomotor apraxia type 2 -: A clinical, pathologic, and genetic study
    Criscuolo, C
    Chessa, L
    Di Giandomenico, S
    Mancini, P
    Saccá, F
    Grieco, GS
    Piane, M
    Barbieri, F
    De Michele, G
    Banfi, S
    Pierelli, F
    Rizzuto, N
    Santorelli, FM
    Gallosti, L
    Filla, A
    Casali, C
    NEUROLOGY, 2006, 66 (08) : 1207 - 1210
  • [4] Ataxia with oculomotor apraxia type 2: A clinical and genetic study of 19 patients
    Tazir, M.
    Ali-Pacha, L.
    M'Zahem, A.
    Delaunoy, J. P.
    Fritsch, M.
    Nouioua, S.
    Benhassine, T.
    Assami, S.
    Grid, D.
    Vallat, J. M.
    Hamri, A.
    Koenig, M.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2009, 278 (1-2) : 77 - 81
  • [5] 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
  • [6] Ataxia with Oculomotor Apraxia 2: Clinical and Genetic study of 17 patients
    Kharrat, Haifa
    Jridi, Cyrine
    ben Sassi, Samia
    Nabli, Fatma
    Blel, Samir
    Hentati, Faycal
    NEUROLOGY, 2018, 90
  • [7] The Clinical Spectrum of Ataxia with Oculomotor Apraxia Type 2
    Brugger, Florian
    Schuepbach, Michael
    Koenig, Michel
    Mueri, Rene
    Bohlhalter, Stephan
    Kaelin-Lang, Alain
    Kamm, Christian P.
    Kaegi, Georg
    MOVEMENT DISORDERS CLINICAL PRACTICE, 2014, 1 (02): : 106 - 109
  • [8] Ataxia-oculomotor apraxia type 4 and hereditary iron overload - case report
    Ferreira, Nuno
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1068 - 1069
  • [9] Ataxia-oculomotor apraxia 2 patients show no increased sensitivity to ionizing radiation
    Nahas, S. A.
    Duquette, A.
    Roddier, K.
    Gatti, R. A.
    Brais, B.
    NEUROMUSCULAR DISORDERS, 2007, 17 (11-12) : 968 - 969
  • [10] Cerebellar ataxia with oculomotor apraxia type 1:: clinical and genetic studies
    Le Ber, I
    Moreira, MC
    Rivaud-Péchoux, S
    Chamayou, C
    Ochsner, F
    Kuntzer, T
    Tardieu, M
    Saïd, G
    Habert, MO
    Demarquay, G
    Tannier, C
    Beis, JM
    Brice, A
    Koenig, M
    Dürr, A
    BRAIN, 2003, 126 : 2761 - 2772