[1]夏明荣,黄月#,张杰文,等.脊髓小脑共济失调基因分型、临床及影像学特征分析[J].郑州大学学报(医学版),2015,(06):860-862.
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脊髓小脑共济失调基因分型、临床及影像学特征分析()
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《郑州大学学报(医学版)》[ISSN:1671-6825/CN:41-1340/R]

卷:
期数:
2015年06期
页码:
860-862
栏目:
应用研究
出版日期:
2015-12-20

文章信息/Info

作者:
夏明荣黄月#张杰文李书剑
郑州大学人民医院(河南省人民医院神经内科 郑州 450003
关键词:
脊髓小脑共济失调三核苷酸重复基因分型临床特征

参考文献/References:


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[5]SerranoMunuera C,CorralJuan M,Stevanin G,et al.New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32[J].JAMA Neurol,2013,70(6):764
[6]Tsoi H,Yu AC,Chen ZS,et al.A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia[J].J Med Genet,2014,51(9):590
[7]Harding AE.Clinical features and classification of inherited ataxias[J].Adv Neurol,1993,61(1):1
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[9]Bettencourt C,Santos C,Kay T,et al.Analysis of segregation patterns in MachadoJoseph disease pedigrees[J].J Hum Genet,2008,53(10):920
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[11]Fan HC,Ho LI,Chi CS,et al.Polyglutamine(PolyQ) diseases: genetics to treatments[J].Cell Transplant,2014,23(4/5):441
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[14]Evers MM,Tran HD,Zalachoras I,et al.Ataxin3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: removal of the CAG containing exon[J].Neurobiol Dis,2013,58:49
[15]Donato SD,Mariotti C,Taroni F.Spinocerebellar ataxia type 1[J].Handb Clin Neurol,2012,103:399
[16]Rüb U,Schls L,Paulson H,et al.Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1,2,3,6 and 7[J].Prog Neurobiol,2013,104:38
[17]Donis KC,Mattos EP,Silva AA,et al.Infantile spinocerebellar ataxia type 7:case report and a review of the literature[J].J Neurol Sci,2015,354(1/2):118
[18]]Jung BC,Choi SI,Du AX,et al.MRI shows a regionspecific pattern of atrophy in spinocerebellar ataxia type 2[J].Cerebellum,2012,11(1):272
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[20]Fancellu R,Paridi D,Tomasello C,et al.Longitudinal study of cognitive and psychiatric functions in spinocerebellar ataxia types 1 and 2[J].J Neurol,2013,260(12):3134
[21]Roeske S,Filla I,Heim S,et al.Progressive cognitive dysfunction in spinocerebellar ataxia type 3[J].Mov Disord,2013,28(10):1435

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更新日期/Last Update: 1900-01-01