Suppr超能文献

First Report of a Filipino with Mohr-Tranebjaerg Syndrome.

作者信息

Penamora-Destriza Johanna Melissa, Domingo Aloysius, Schmidt Thomas G P M, Westenberger Ana, Klein Christine, Rosales Raymond

机构信息

Institute for Neurosciences St. Luke's Medical Center Quezon City Philippines.

Institute of Neurogenetics University of Lübeck Lübeck Germany.

出版信息

Mov Disord Clin Pract. 2015 Aug 26;2(4):417-419. doi: 10.1002/mdc3.12210. eCollection 2015 Dec.

Abstract
摘要

相似文献

1
First Report of a Filipino with Mohr-Tranebjaerg Syndrome.
Mov Disord Clin Pract. 2015 Aug 26;2(4):417-419. doi: 10.1002/mdc3.12210. eCollection 2015 Dec.
4
[One case report of Mohr-Tranebjærg syndrome].
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2019 Sep;33(9):848-849. doi: 10.13201/j.issn.1001-1781.2019.09.012.
5
Dystonia in the Mohr-Tranebjaerg syndrome responds to GABAergic substances.
Mov Disord. 2004 Oct;19(10):1241-3. doi: 10.1002/mds.20150.
6
Temporal bone histopathologic and genetic studies in Mohr-Tranebjaerg syndrome (DFN-1).
Otol Neurotol. 2001 Jul;22(4):506-11. doi: 10.1097/00129492-200107000-00017.
8
A misleading presentation of Mohr-Tranebjaerg syndrome: What is hidden behind an axonal neuropathy?
Parkinsonism Relat Disord. 2022 Sep;102:54-56. doi: 10.1016/j.parkreldis.2022.07.021. Epub 2022 Aug 5.
9
The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.
Mov Disord. 2012 Jul;27(8):1034-40. doi: 10.1002/mds.25033. Epub 2012 Jun 26.
10
[Mohr-Tranebjaerg syndrome].
Nihon Rinsho. 2002 Apr;60 Suppl 4:385-8.

引用本文的文献

1
Case report: Mohr-Tranebjaerg syndrome: hearing impairment as the onset of an insidious disorder with high recurrence risk.
Front Neurol. 2023 Jun 1;14:1161940. doi: 10.3389/fneur.2023.1161940. eCollection 2023.
2
Reduced mitochondrial size in hippocampus and psychiatric behavioral changes in the mutant mice with homologous mutation of .
Front Cell Neurosci. 2022 Aug 25;16:972964. doi: 10.3389/fncel.2022.972964. eCollection 2022.
3
Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndrome.
Mol Genet Genomic Med. 2020 Mar;8(3):e1121. doi: 10.1002/mgg3.1121. Epub 2020 Jan 5.

本文引用的文献

1
New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3).
Eur J Hum Genet. 2015 Oct;23(10):1334-40. doi: 10.1038/ejhg.2014.292. Epub 2015 Jan 21.
2
Phenomenology and classification of dystonia: a consensus update.
Mov Disord. 2013 Jun 15;28(7):863-73. doi: 10.1002/mds.25475. Epub 2013 May 6.
3
Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia-parkinsonism.
Neurogenetics. 2013 May;14(2):167-9. doi: 10.1007/s10048-013-0357-x. Epub 2013 Feb 23.
4
The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.
Mov Disord. 2012 Jul;27(8):1034-40. doi: 10.1002/mds.25033. Epub 2012 Jun 26.
5
The unique phenomenology of sex-linked dystonia parkinsonism (XDP, DYT3, "Lubag").
Int J Neurosci. 2011;121 Suppl 1:3-11. doi: 10.3109/00207454.2010.526728. Epub 2010 Nov 3.
6
Human deafness dystonia syndrome is a mitochondrial disease.
Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2141-6. doi: 10.1073/pnas.96.5.2141.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验