Adult-Onset Myoclonus-Dystonia Syndrome Preceding Characteristic Facial Myoclonus in Indian -related Dyskinesia.
作者信息
Agarwal Pankaj Ashok, Ramprasad Vedam L
机构信息
Movement Disorders Clinic, Department of Neurology Gleneagles Global Hospitals Dr. Ernest Borges Road, Parel Mumbai, 400012 India.
Department of Neurology Seth GS Medical College and KEM Hospital Dr. Ernest Borges Road, Parel Mumbai, 400012 India.
出版信息
Mov Disord Clin Pract. 2019 Feb 20;6(3):267-268. doi: 10.1002/mdc3.12733. eCollection 2019 Mar.
Abstract
摘要
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本文引用的文献
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Curr Opin Neurol. 2018 Aug;31(4):484-490. doi: 10.1097/WCO.0000000000000577.
2
ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.表现为家族性肌阵挛性肌张力障碍的腺苷酸环化酶5相关运动障碍
Neurogenetics. 2017 Apr;18(2):111-117. doi: 10.1007/s10048-017-0510-z. Epub 2017 Feb 22.
3
Phenotypic insights into ADCY5-associated disease.对ADCY5相关疾病的表型见解。
Mov Disord. 2016 Jul;31(7):1033-40. doi: 10.1002/mds.26598. Epub 2016 Apr 8.
4
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.与腺苷酸环化酶5相关的运动障碍：更广泛的谱系及基因型-表型相关性
Neurology. 2015 Dec 8;85(23):2026-35. doi: 10.1212/WNL.0000000000002058. Epub 2015 Nov 4.
5
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.家族性运动障碍伴面肌肌纤维抽搐中的功能获得性 ADCY5 突变。
Ann Neurol. 2014 Apr;75(4):542-9. doi: 10.1002/ana.24119. Epub 2014 Mar 13.
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