Suppr超能文献

Reply to "Mitochondrial tRNA Glutamic Acid Variant 14709T>C Manifesting as Myoclonic Epilepsy with Ragged Red Fibers".

作者信息

Ban Rui, Guo Jun-Hong, Pu Chuan-Qiang, Shi Qiang, Liu Hua-Xu, Zhang Yu-Tong

机构信息

Department of Neurology, Chinese People's Liberation Army General Hospital, Beijing 100853; School of Medicine, Nankai University, Tianjin 300071, China.

Department of Neurology, The First Hospital of Shanxi Medical University, Taiyuan, Shanxi 030001, China.

出版信息

Chin Med J (Engl). 2018 Oct 20;131(20):2519-2520. doi: 10.4103/0366-6999.243575.

Abstract
摘要

相似文献

1
Reply to "Mitochondrial tRNA Glutamic Acid Variant 14709T>C Manifesting as Myoclonic Epilepsy with Ragged Red Fibers".
Chin Med J (Engl). 2018 Oct 20;131(20):2519-2520. doi: 10.4103/0366-6999.243575.
2
Mitochondrial tRNA Glutamic Acid Variant 14709T>C Manifesting as Myoclonic Epilepsy with Ragged Red Fibers.
Chin Med J (Engl). 2018 Oct 20;131(20):2518-2519. doi: 10.4103/0366-6999.243557.
3
Is the MT-TN variant m.5703G>A truly causative for myoclonic epilepsy with ragged red fibers syndrome plus?
Chin Med J (Engl). 2019 Jul 20;132(14):1752. doi: 10.1097/CM9.0000000000000337.
4
Epidemiology of the mitochondrial DNA 8344A>G mutation for the myoclonus epilepsy and ragged red fibres (MERRF) syndrome.
J Neurol Neurosurg Psychiatry. 2003 Aug;74(8):1158-9. doi: 10.1136/jnnp.74.8.1158.
5
Teaching NeuroImages: Imaging phenotype of myoclonic epilepsy with ragged-red fibers.
Neurology. 2020 May 19;94(20):e2187-e2188. doi: 10.1212/WNL.0000000000009438. Epub 2020 Apr 23.
7
Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome.
Proc Natl Acad Sci U S A. 2007 Sep 25;104(39):15299-304. doi: 10.1073/pnas.0704441104. Epub 2007 Sep 18.
8
A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation.
Neurology. 1996 May;46(5):1334-6. doi: 10.1212/wnl.46.5.1334.
10
MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation.
Muscle Nerve. 2011 Sep;44(3):448-51. doi: 10.1002/mus.22149.

本文引用的文献

2
[Myoclonus epilepsy with ragged-red fibers: a case report and literature review].
Beijing Da Xue Xue Bao Yi Xue Ban. 2015 Dec 18;47(6):1034-6.
3
Scoliosis in mitochondrial myopathy: case report and review of the literature.
Medicine (Baltimore). 2015 Feb;94(6):e513. doi: 10.1097/MD.0000000000000513.

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