SYNE1 mutations cause adult onset autosomal recessive ataxia with retained reflexes in Brazilian patients

被引:0
|
作者
Drumond Gama, Maria Thereza [1 ]
Pedroso, Jose Luiz [1 ]
Barsottini, Orlando [1 ]
Noreau, Anne [2 ]
Houle, Gabrielle [2 ]
Dionne-Laporte, Alexandre [2 ]
Dion, Patrick [2 ]
Rouleau, Guy [2 ]
机构
[1] Univ Fed Sao Paulo, Sao Paulo, Brazil
[2] Montreal Neurol Hosp & Inst, Montreal, PQ, Canada
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
P3.004
引用
收藏
页数:2
相关论文
共 50 条
  • [1] SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients
    Drumond Gama, Maria Thereza
    Houle, Gabrielle
    Noreau, Anne
    Dionne-Laporte, Alexandre
    Dion, Patrick A.
    Rouleau, Guy A.
    Barsottini, Orlando G. P.
    Pedroso, Jose Luiz
    [J]. MOVEMENT DISORDERS, 2016, 31 (11) : 1754 - 1756
  • [2] An autosomal recessive ataxia caused by SYNE1 mutations
    [J]. Nature Clinical Practice Neurology, 2007, 3 (4): : 182 - 182
  • [3] SYNE1 Mutations in Autosomal Recessive Cerebellar Ataxia
    Noreau, Anne
    Bourassa, Cynthia V.
    Szuto, Anna
    Levert, Annie
    Dobrzeniecka, Sylvia
    Gauthier, Julie
    Forlani, Sylvie
    Durr, Alexandra
    Anheim, Mathieu
    Stevanin, Giovanni
    Brice, Alexis
    Bouchard, Jean-Pierre
    Dion, Patrick A.
    Dupre, Nicolas
    Rouleau, Guy A.
    [J]. JAMA NEUROLOGY, 2013, 70 (10) : 1296 - 1301
  • [4] Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia
    François Gros-Louis
    Nicolas Dupré
    Patrick Dion
    Michael A Fox
    Sandra Laurent
    Steve Verreault
    Joshua R Sanes
    Jean-Pierre Bouchard
    Guy A Rouleau
    [J]. Nature Genetics, 2007, 39 : 80 - 85
  • [5] Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia
    Gros-Louis, Francois
    Dupre, Nicolas
    Dion, Patrick
    Fox, Michael A.
    Laurent, Sandra
    Verreault, Steve
    Sanes, Joshua R.
    Bouchard, Jean-Pierre
    Rouleau, Guy A.
    [J]. NATURE GENETICS, 2007, 39 (01) : 80 - 85
  • [6] Predominant motor neuron involvement in autosomal recessive SYNE1 ataxia
    Nachbauer, W.
    Schossig, A.
    Fauth, C.
    Poewe, W.
    Boesch, S.
    [J]. MOVEMENT DISORDERS, 2016, 31 : S342 - S342
  • [7] Multimodal Neuroimaging Analysis in Brazilian Patients with SYNE1 Ataxia
    Drumond Gama, Maria Thereza
    Piccinin, Camila C.
    Rezende, Thiago Junqueira
    Dion, Patrick
    Rouleau, Guy
    Franca, Marcondes Cavalcante
    Barsottini, Orlando
    Pedroso, Jose Luiz
    [J]. NEUROLOGY, 2018, 90
  • [8] Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family
    Qian, Nannan
    Wei, Taohua
    Yang, Wenming
    Wang, Jiuxiang
    Zhang, Shijie
    Jin, Shan
    Dong, Wei
    Hao, Wenjie
    Yang, Yue
    Huang, Ru
    [J]. FRONTIERS IN GENETICS, 2022, 13
  • [9] Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants
    Duan, Xiaohui
    Hao, Ying
    Cao, Zhenhua
    Zhou, Chao
    Zhang, Jin
    Wang, Renbin
    Sun, Shaojie
    Gu, Weihong
    [J]. CEREBELLUM, 2021, 20 (01): : 74 - 82
  • [10] Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants
    Xiaohui Duan
    Ying Hao
    Zhenhua Cao
    Chao Zhou
    Jin Zhang
    Renbin Wang
    Shaojie Sun
    Weihong Gu
    [J]. The Cerebellum, 2021, 20 : 74 - 82