共 50 条
- [1] SYNE1 Mutations in Autosomal Recessive Cerebellar Ataxia[J]. JAMA NEUROLOGY, 2013, 70 (10) : 1296 - 1301Noreau, AnneBourassa, Cynthia V.Szuto, AnnaLevert, AnnieDobrzeniecka, SylviaGauthier, JulieForlani, SylvieDurr, AlexandraAnheim, MathieuStevanin, GiovanniBrice, AlexisBouchard, Jean-PierreDion, Patrick A.Dupre, NicolasRouleau, Guy A.
- [2] Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia[J]. Nature Genetics, 2007, 39 : 80 - 85François Gros-LouisNicolas DupréPatrick DionMichael A FoxSandra LaurentSteve VerreaultJoshua R SanesJean-Pierre BouchardGuy A Rouleau
- [3] Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia[J]. NATURE GENETICS, 2007, 39 (01) : 80 - 85Gros-Louis, FrancoisDupre, NicolasDion, PatrickFox, Michael A.Laurent, SandraVerreault, SteveSanes, Joshua R.Bouchard, Jean-PierreRouleau, Guy A.
- [4] SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients[J]. MOVEMENT DISORDERS, 2016, 31 (11) : 1754 - 1756Drumond Gama, Maria TherezaHoule, GabrielleNoreau, AnneDionne-Laporte, AlexandreDion, Patrick A.Rouleau, Guy A.Barsottini, Orlando G. P.Pedroso, Jose Luiz
- [5] Predominant motor neuron involvement in autosomal recessive SYNE1 ataxia[J]. MOVEMENT DISORDERS, 2016, 31 : S342 - S342Nachbauer, W.Schossig, A.Fauth, C.Poewe, W.Boesch, S.
- [6] SYNE1 mutations cause adult onset autosomal recessive ataxia with retained reflexes in Brazilian patients[J]. NEUROLOGY, 2017, 88Drumond Gama, Maria TherezaPedroso, Jose LuizBarsottini, OrlandoNoreau, AnneHoule, GabrielleDionne-Laporte, AlexandreDion, PatrickRouleau, Guy
- [8] A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8[J]. Human Genome Variation, 4 (1)Yoshinaga T.Nakamura K.Ishikawa M.Yamaguchi T.Takano K.Wakui K.Kosho T.Yoshida K.Fukushima Y.Sekijima Y.
- [9] Identifying SYNE1 Ataxia With Novel Mutations in a Chinese Population[J]. FRONTIERS IN NEUROLOGY, 2018, 9Peng, YunYe, WeiChen, ZhaoPeng, HuirongWang, PuzhiHou, XuanWang, ChunrongZhou, XinHou, XiaocanLi, TangjiaoQiu, RongHu, ZhengmaoTang, BeishaJiang, Hong
- [10] Extended Phenotypes of Autosomal Recessive Cerebellar Ataxia Type 1: Learn From a Novel Mutation of SYNE1 Gene[J]. MOVEMENT DISORDERS, 2023, 38 : S327 - S329Lee, T. L.Chien, C. Y.Sun, Y. T.
