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ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.

作者信息

Friedman Jennifer R, Méneret Aurélie, Chen Dong-Hui, Trouillard Oriane, Vidailhet Marie, Raskind Wendy H, Roze Emmanuel

机构信息

Department of Neurosciences and Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA.

Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, F-75013, Paris, France.

出版信息

Mov Disord. 2016 Jan;31(1):147-8. doi: 10.1002/mds.26494. Epub 2015 Dec 21.

Abstract
摘要

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本文引用的文献

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ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.
Neurology. 2015 Dec 8;85(23):2026-35. doi: 10.1212/WNL.0000000000002058. Epub 2015 Nov 4.
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Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.
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