自然史研究在罕见病中的重要作用：来自X连锁肌张力障碍帕金森综合征的见解
The vital role of natural history studies in rare disease: insights from X-linked dystonia parkinsonism.
作者信息
Haq Ihtsham, Brashear Allison
机构信息
Department of Neurology, Miller School of Medicine, University of Miami, Miami, FL, USA.
Department of Neurology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY, USA.
出版信息
Brain Commun. 2023 Apr 18;5(3):fcad125. doi: 10.1093/braincomms/fcad125. eCollection 2023.
Abstract
This scientific commentary refers to 'Establishing a natural history of X-linked dystonia parkinsonism', by Acuna (https://doi.org/10.1093/braincomms/fcad106).
摘要
本科学评论参考了阿库纳所著的《建立X连锁肌张力障碍帕金森综合征的自然病史》（https://doi.org/10.1093/braincomms/fcad106）。
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本文引用的文献
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Establishing a natural history of X-linked dystonia parkinsonism.建立X连锁肌张力障碍帕金森综合征的自然病史。
Brain Commun. 2023 Apr 4;5(3):fcad106. doi: 10.1093/braincomms/fcad106. eCollection 2023.
2
"Real-Life" Remote Dystonia Assessment: Feasibility, Accuracy, and Practice Implications.“真实生活”中的肌张力障碍远程评估：可行性、准确性及实际应用意义
Mov Disord Clin Pract. 2021 Aug 28;8(8):1269-1271. doi: 10.1002/mdc3.13330. eCollection 2021 Nov.
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J Parkinsons Dis. 2020;10(4):1379-1382. doi: 10.3233/JPD-202121.
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Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing.修订快速进展性肌张力障碍-帕金森病：扩大 ATP1A3 检测的适应证。
Mov Disord. 2019 Oct;34(10):1528-1536. doi: 10.1002/mds.27801. Epub 2019 Jul 30.
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