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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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本文引用的文献

1
The prevalence of PRKRA mutations in idiopathic dystonia.
Parkinsonism Relat Disord. 2018 Mar;48:93-96. doi: 10.1016/j.parkreldis.2017.12.015. Epub 2017 Dec 13.
2
PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family.
Mov Disord. 2016 May;31(5):765-7. doi: 10.1002/mds.26583. Epub 2016 Mar 17.
3
Altered activation of protein kinase PKR and enhanced apoptosis in dystonia cells carrying a mutation in PKR activator protein PACT.
J Biol Chem. 2015 Sep 11;290(37):22543-57. doi: 10.1074/jbc.M115.669408. Epub 2015 Jul 31.
4
DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.
Mov Disord. 2014 Oct;29(12):1504-10. doi: 10.1002/mds.25981. Epub 2014 Aug 20.
5
Phenomenology and classification of dystonia: a consensus update.
Mov Disord. 2013 Jun 15;28(7):863-73. doi: 10.1002/mds.25475. Epub 2013 May 6.

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