New Mutations Identified in the SYNE1 Gene in ARCA-1 Patients

被引：0
|
作者：
Noreau, Anne
Provencher, Pierre
Bourassa, Cynthia
Dion, Patrick A.
Dupre, Nicolas
Brice, Alexis
Rouleau, Guy A.
机构：
来源：
NEUROLOGY | 2010年 / 74卷 / 09期
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：A255 / A256
页数：2
相关论文
共 50 条
  • [1] An autosomal recessive ataxia caused by SYNE1 mutations
    [J]. Nature Clinical Practice Neurology, 2007, 3 (4): : 182 - 182
  • [2] 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
  • [3] Identifying SYNE1 Ataxia With Novel Mutations in a Chinese Population
    Peng, Yun
    Ye, Wei
    Chen, Zhao
    Peng, Huirong
    Wang, Puzhi
    Hou, Xuan
    Wang, Chunrong
    Zhou, Xin
    Hou, Xiaocan
    Li, Tangjiao
    Qiu, Rong
    Hu, Zhengmao
    Tang, Beisha
    Jiang, Hong
    [J]. FRONTIERS IN NEUROLOGY, 2018, 9
  • [4] Unravelling Hidden Mutations Behind the Heterozygos SYNE1 Genotype
    Salamatova, Y.
    Terpak, L.
    Giatour, E.
    Shneyder, N.
    [J]. MOVEMENT DISORDERS, 2022, 37 : S216 - S216
  • [5] Multimodal neuroimaging analysis in patients with SYNE1 Ataxia
    Gama, Maria T. D.
    Piccinin, Camila C.
    Rezende, Thiago J. R.
    Dion, Patrick A.
    Rouleau, Guy A.
    Franca Junior, Marcondes C.
    Barsottini, Orlando G. P.
    Pedroso, Jose Luiz
    [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 2018, 390 : 227 - 230
  • [6] 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
  • [7] DOMINANT MUSCULAR DYSTROPHY WITH A NOVEL SYNE1 GENE MUTATION
    Fanin, Marina
    Savarese, Marco
    Nascimbeni, Anna C.
    Di Fruscio, Giuseppina
    Pastorello, Ebe
    Tasca, Elisabetta
    Trevisan, Carlo P.
    Nigro, Vincenzo
    Angelini, Corrado
    [J]. MUSCLE & NERVE, 2015, 51 (01) : 145 - 147
  • [8] Novel Compound Heterozygous Mutations in the SYNE1 Gene in a Taiwanese Family: A Case Report and Literature Review
    Kuo, Chia-Yan
    Yu, Pei Shan
    Chao, Chih-Ying
    Wang, Chun-Chieh
    Fan, Wen-Lang
    Wu, Yih-Ru
    [J]. JOURNAL OF MOVEMENT DISORDERS, 2023, 16 (02) : 202 - +
  • [9] 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
  • [10] 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
12345