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本文引用的文献

1
Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement.苍白球深部脑刺激治疗DYT6型肌张力障碍：运动改善的临床结果及预测因素
J Clin Med. 2019 Dec 6;8(12):2163. doi: 10.3390/jcm8122163.
2
Genetic screening of THAP1 in primary dystonia patients of India.印度原发性肌张力障碍患者中THAP1的基因筛查。
Neurosci Lett. 2017 Jan 10;637:31-37. doi: 10.1016/j.neulet.2016.11.060. Epub 2016 Nov 29.
3
Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia.单基因孤立性肌张力障碍中慢性苍白球神经刺激的短期和长期结果
Neurology. 2015 Mar 3;84(9):895-903. doi: 10.1212/WNL.0000000000001312. Epub 2015 Feb 4.
4
Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.THAP1 型肌张力障碍的基因型-表型相关性：分子基础及新病例描述。
Parkinsonism Relat Disord. 2012 Jun;18(5):414-25. doi: 10.1016/j.parkreldis.2012.02.001. Epub 2012 Feb 28.
5
Pallidal deep brain stimulation for DYT6 dystonia.苍白球深部脑刺激治疗 DYT6 型肌张力障碍。
J Neurol Neurosurg Psychiatry. 2012 Feb;83(2):182-7. doi: 10.1136/jnnp-2011-300979. Epub 2011 Sep 23.
6
DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.DYT6 型肌张力障碍：突变筛查、表型及脑深部电刺激反应。
Mov Disord. 2010 Oct 30;25(14):2420-7. doi: 10.1002/mds.23285.
7
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.THAP1（DYT6）基因突变与伴有明显痉挛性发音障碍的全身性肌张力障碍：一项基因筛查研究。
Lancet Neurol. 2009 May;8(5):447-52. doi: 10.1016/S1474-4422(09)70083-3. Epub 2009 Apr 1.
8
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.THAP1基因的突变是DYT6原发性扭转性肌张力障碍的病因。
Nat Genet. 2009 Mar;41(3):286-8. doi: 10.1038/ng.304. Epub 2009 Feb 1.
9
Treatment of early-onset dystonia: update and a new perspective.早发性肌张力障碍的治疗：最新进展与新视角
Childs Nerv Syst. 2000 Jun;16(6):334-40. doi: 10.1007/s003810050528.

Long-Term Efficacy of Pallidal Deep Brain Stimulation in a Patient with DYT-THAP1 (DYT-6) Dystonia from India.

作者信息

Sankhla Charulata Savant, Sankhe Milind, Ray Jharna

机构信息

Department of Neurology, P D Hinduja National Hospital and Medical Research Center, Mumbai, Maharashtra, India.

Department of Neurosurgery, P D Hinduja National Hospital and Medical Research Center, Mumbai, Maharashtra, India.

出版信息

Ann Indian Acad Neurol. 2022 Mar-Apr;25(2):314-316. doi: 10.4103/aian.aian_378_21. Epub 2022 Jan 5.

DOI:10.4103/aian.aian_378_21
PMID:35693669
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9175436/
Abstract
摘要