Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutation
Author:
Funder
Ministero della Salute
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Clinical Neurology,Dermatology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s10072-019-03864-w.pdf
Reference8 articles.
1. Tang S, Wang J, Zhang VW, Li FY, Landsverk M, Cui H, Truong CK, Wang G, Chen LC, Graham B, Scaglia F, Schmitt ES, Craigen WJ, Wong LJC (2013) Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects. Hum Mutat 34:882–893
2. Cassandrini D, Savasta S, Bozzola M, Tessa A, Pedemonte M, Assereto S et al (2006) Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism. J Child Neurol 21:983–985
3. Rubegni A, Ferrari AR, Pasquariello R, Canapicchi R, Santorelli FM, Nesti C (2018) Relapsing-remitting course of cystic leukoencephalopathy. Pediatr Neurol 89:63–65
4. De Michele G, Sorrentino P, Nesti C, Rubegni A, Ruggiero L, Peluso S et al (2018) Reversible valproate-induced subacute encephalopathy associated with a MT-ATP8 variant in the mitochondrial genome. Front Neurol 9:728
5. Barić I, Fumić K, Petković Ramadža D, Sperl W, Zimmermann FA, Muačević-Katanec D, Mitrović Z, Pažanin L, Cvitanović Šojat L, Kekez T, Reiner Ž, Mayr JA (2013) Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene. Eur J Hum Genet 21:871–875
Cited by 10 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. Theoretical investigation of the pathway-based network of type 2 diabetes mellitus-related genes;The European Physical Journal B;2023-06
2. Camptocormia and Other Orthopedic Compromise Dominating Mitochondrial Disorder: A Case Report;Cureus;2020-12-03
3. Genetic aspects of the oxidative phosphorylation dysfunction in dilated cardiomyopathy;Mutation Research/Reviews in Mutation Research;2020-10
4. Unusual Phenotype and Disease Trajectory in Kearns–Sayre Syndrome;Case Reports in Neurological Medicine;2020-02-28
5. Rare Neurologic Diseases and Neurological Sciences: a report for the celebration of the 2020 Rare Diseases Day;Neurological Sciences;2020-02-15
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