DYT-PRKRA中黑质纹状体变性的影像学证据。
Imaging Evidence of Nigrostriatal Degeneration in DYT-PRKRA.
作者信息
Pinto Maria João, Oliveira Ana, Rosas Maria José, Massano João
机构信息
Movement Disorders and Functional Surgery Unit, Department of Neurology, Centro Hospitalar Universitário de São João Porto Portugal.
Department of Clinical Neurosciences and Mental Health, Faculty of Medicine University of Porto Porto Portugal.
出版信息
Mov Disord Clin Pract. 2020 Apr 6;7(4):472-474. doi: 10.1002/mdc3.12941. eCollection 2020 May.
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Mov Disord. 2016 May;31(5):765-7. doi: 10.1002/mds.26583. Epub 2016 Mar 17.
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Altered activation of protein kinase PKR and enhanced apoptosis in dystonia cells carrying a mutation in PKR activator protein PACT.蛋白激酶PKR激活改变，且携带PKR激活蛋白PACT突变的肌张力障碍细胞中的细胞凋亡增强。
J Biol Chem. 2015 Sep 11;290(37):22543-57. doi: 10.1074/jbc.M115.669408. Epub 2015 Jul 31.
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DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.DYT16再探讨：外显子组测序在一个欧洲肌张力障碍家族中鉴定出PRKRA突变
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