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Dystonia-predominant VPS35-related parkinson's disease: diagnostic challenges and the role of Levodopa response in unmasking genetic etiology.

作者信息

Tan Changhong, Yang Jiali, Yang Qian, Feng Xiaopeng

机构信息

Department of Neurology, The Second Affiliated Hospital of Chongqing Medical University, 74 Linjiang Road, Yuzhong District, 400010, Chonqing, China.

Department of Neurology, People's Hospital of Xiushan County, Yingfeng Road, Zhonghe Subdistrict, Xiushan Tujia and Miao Autonomous County, Chonqing, 400010, China.

出版信息

Neurol Sci. 2025 Aug 26. doi: 10.1007/s10072-025-08437-8.

DOI:10.1007/s10072-025-08437-8
PMID:40856745
Abstract
摘要

相似文献

1
Dystonia-predominant VPS35-related parkinson's disease: diagnostic challenges and the role of Levodopa response in unmasking genetic etiology.以肌张力障碍为主的VPS35相关帕金森病：诊断挑战及左旋多巴反应在揭示遗传病因中的作用
Neurol Sci. 2025 Aug 26. doi: 10.1007/s10072-025-08437-8.
2
Parkinson's disease - genetic cause.帕金森病——遗传病因。
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Cabergoline for levodopa-induced complications in Parkinson's disease.卡麦角林治疗帕金森病左旋多巴诱导的并发症
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Ropinirole versus bromocriptine for levodopa-induced complications in Parkinson's disease.罗匹尼罗与溴隐亭治疗帕金森病左旋多巴诱发并发症的比较。
Cochrane Database Syst Rev. 2001(1):CD001517. doi: 10.1002/14651858.CD001517.

本文引用的文献

1
Global Presence and Penetrance of -Related Disorder.与……相关障碍的全球存在情况及患病率
Neurol Genet. 2024 Sep 13;10(5):e200187. doi: 10.1212/NXG.0000000000200187. eCollection 2024 Oct.
2
De novo macrocyclic peptides for inhibiting, stabilizing, and probing the function of the retromer endosomal trafficking complex.用于抑制、稳定和探测逆转录酶内体运输复合物功能的从头合成大环肽。
Sci Adv. 2021 Dec 3;7(49):eabg4007. doi: 10.1126/sciadv.abg4007. Epub 2021 Dec 1.
3
Rest tremor in idiopathic adult-onset dystonia.特发性成人起病性肌张力障碍中的静止性震颤。
Eur J Neurol. 2016 May;23(5):935-9. doi: 10.1111/ene.12966. Epub 2016 Feb 24.
4
Frequency of the D620N mutation in VPS35 in Parkinson disease.帕金森病中VPS35基因D620N突变的频率
Arch Neurol. 2012 Oct;69(10):1360-4. doi: 10.1001/archneurol.2011.3367.