Affection of immune cells by a C10orf2 mutation manifesting as mitochondrial myopathy and transient sensory transverse syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,General Medicine
Link
http://link.springer.com/article/10.1007/s13760-017-0821-8/fulltext.html
Reference5 articles.
1. Galassi G, Maggi L, Lamantea E, Ariatti A, Malagoli M (2017) C10ORF2 mutation associated with progressive external ophthalmoplegia and clinically isolated syndrome. Acta Neurol Belg. doi: 10.1007/s13760-017-0793-8
2. Pfeffer G, Burke A, Yu-Wai-Man P, Compston DA, Chinnery PF (2013) Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations. Neurology 81:2073–2081
3. Minoia F, Bertamino M, Picco P, Severino M, Rossi A, Fiorillo C, Minetti C, Nesti C, Santorelli FM, Di Rocco M (2017) Widening the heterogeneity of Leigh syndrome: clinical, biochemical, and neuroradiologic features in a patient harboring a NDUFA10 mutation. JIMD Rep. doi: 10.1007/8904_2017_9
4. Finsterer J (2012) Stroke and stroke-like episodes in muscle disease. Open Neurol J 6:26–36
5. Yiş U, Seneca S, Dirik E, Kurul SH, Ozer E, Cakmakçi H, De Meirleir L (2009) Unusual findings in Leigh syndrome caused by T8993C mutation. Eur J Paediatr Neurol 13:550–552
Cited by 7 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Connective tissue involvement in an m.10191 T > C carrier with Leigh-like syndrome;Bulletin of the National Research Centre;2023-12-15
2. Spinal cord involvement in LHON requires pathophysiological clarification;Multiple Sclerosis and Related Disorders;2021-06
3. Entero-encephalopathy due to fbxl4-related mtdna depletion syndrome;The Turkish Journal of Pediatrics;2021
4. Cerebral imaging in adult mitochondrial disorders;Journal of the Neurological Sciences;2019-09
5. Liability of sepsis is hardly determined by the COXI variant m.6459T>C;Journal of Cellular and Molecular Medicine;2018-10-18
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3