对原发性肌张力障碍队列中THAP1基因的罕见序列变异进行筛查。 - Suppr

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Screening for rare sequence variants in the THAP1 gene in a primary dystonia cohort.

作者信息

Newman Jeremy R B, Lehn Alexander C, Boyle Richard S, Silburn Peter A, Mellick George D

机构信息

Eskitis Institute for Cell and Molecular Therapies, Griffith University, Brisbane, Australia.

出版信息

Mov Disord. 2013 Oct;28(12):1752-3. doi: 10.1002/mds.25479. Epub 2013 May 6.

DOI:10.1002/mds.25479

PMID:23649788

Abstract

摘要

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Screening for rare sequence variants in the THAP1 gene in a primary dystonia cohort.

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引用本文的文献

Changes in pallidal neural activity following long-term symptom improvement from botulinum toxin treatment in DYT6 dystonia: a case report.

J Med Case Rep. 2022 Jan 9;16(1):15. doi: 10.1186/s13256-021-03215-4.

In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.

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Screening for rare sequence variants in the THAP1 gene in a primary dystonia cohort.

作者信息

Newman Jeremy R B, Lehn Alexander C, Boyle Richard S, Silburn Peter A, Mellick George D

机构信息

Eskitis Institute for Cell and Molecular Therapies, Griffith University, Brisbane, Australia.

出版信息

Mov Disord. 2013 Oct;28(12):1752-3. doi: 10.1002/mds.25479. Epub 2013 May 6.

DOI:10.1002/mds.25479

PMID:23649788

Abstract

摘要

相似文献

Screening for rare sequence variants in the THAP1 gene in a primary dystonia cohort.

Mov Disord. 2013 Oct;28(12):1752-3. doi: 10.1002/mds.25479. Epub 2013 May 6.

Mutational screening of THAP1 in a German population with primary dystonia.

Parkinsonism Relat Disord. 2012 Jan;18(1):104-6. doi: 10.1016/j.parkreldis.2011.06.023. Epub 2011 Jul 22.

Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion.

Mov Disord. 2010 Dec 15;25(16):2854-7. doi: 10.1002/mds.23133.

Intrafamilial variability of the primary dystonia DYT6 phenotype caused by p.Cys5Trp mutation in THAP1 gene.

Neurol Neurochir Pol. 2014;48(4):254-7. doi: 10.1016/j.pjnns.2014.07.003. Epub 2014 Jul 29.

Novel THAP1 sequence variants in primary dystonia.

Neurology. 2010 Jan 19;74(3):229-38. doi: 10.1212/WNL.0b013e3181ca00ca.

THAP1: role in focal dystonia?

Neurology. 2010 Jan 19;74(3):192-3. doi: 10.1212/WNL.0b013e3181cbf069.

Clinical presentation of a patient with SLC20A2 and THAP1 deletions: differential diagnosis of oromandibular dystonia.

Parkinsonism Relat Disord. 2015 Mar;21(3):329-31. doi: 10.1016/j.parkreldis.2014.12.024. Epub 2015 Jan 8.

Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia.

J Neurol Sci. 2014 Sep 15;344(1-2):190-2. doi: 10.1016/j.jns.2014.06.012. Epub 2014 Jun 17.

TOR1A, THAP1, and GNAL mutational screening in Austrian patients with primary isolated dystonia.

Mov Disord. 2015 Nov;30(13):1853-4. doi: 10.1002/mds.26458. Epub 2015 Oct 28.

Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.

Lancet Neurol. 2009 May;8(5):447-52. doi: 10.1016/S1474-4422(09)70083-3. Epub 2009 Apr 1.

引用本文的文献

Changes in pallidal neural activity following long-term symptom improvement from botulinum toxin treatment in DYT6 dystonia: a case report.

J Med Case Rep. 2022 Jan 9;16(1):15. doi: 10.1186/s13256-021-03215-4.

In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.

J Mol Neurosci. 2017 May;62(1):11-16. doi: 10.1007/s12031-017-0904-2. Epub 2017 Mar 15.

Understanding the anatomy of dystonia: determinants of penetrance and phenotype.

Curr Neurol Neurosci Rep. 2013 Nov;13(11):401. doi: 10.1007/s11910-013-0401-0.