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帕金森病的临床基因检测应成为常规患者护理的一部分。

Clinical genetic testing in Parkinson's disease should become part of routine patient care.

机构信息

Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A 2B4, Canada.

Clinical Research Unit, The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC H3A 2B4, Canada.

出版信息

Brain. 2024 Aug 1;147(8):2595-2597. doi: 10.1093/brain/awae181.

Abstract

This scientific commentary refers to ‘Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson’s Disease Study’ by Westenberger (https://doi.org/10.1093/brain/awae188) and ‘Parkinson’s disease variant detection and disclosure: PD GENEration, a North American study’ by Cook . (https://doi.org/10.1093/brain/awae142).

摘要

本科学评论提到了 Westenberger 的“基因靶向试验时代遗传检测的相关性:罗斯托克帕金森病研究”(https://doi.org/10.1093/brain/awae188)和 Cook 的“帕金森病变异检测和披露:北美的 PD GENEration 研究”(https://doi.org/10.1093/brain/awae142)。

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Clinical testing panels for ALS: global distribution, consistency, and challenges.肌萎缩侧索硬化症的临床检测面板:全球分布、一致性和挑战。
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New therapeutic approaches to Parkinson's disease targeting GBA, LRRK2 and Parkin.针对 GBA、LRRK2 和 Parkin 的帕金森病新治疗方法。
Neuropharmacology. 2022 Jan 1;202:108822. doi: 10.1016/j.neuropharm.2021.108822. Epub 2021 Oct 7.
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Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.GTP环化水解酶1突变携带者中的帕金森病
Brain. 2014 Sep;137(Pt 9):2480-92. doi: 10.1093/brain/awu179. Epub 2014 Jul 2.

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