Cystic Leucoencephalopathy in NDUFV1 Mutation
Author:
Funder
None
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology, and Child Health
Link
http://link.springer.com/article/10.1007/s12098-018-2721-1/fulltext.html
Reference12 articles.
1. Bugiani M, Invernizzi F, Alberio S, et al. Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta. 2004;1659:136–47.
2. Ortega-Recalde O, Fonseca DJ, Patiño LC, et al. A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations. Mitochondrion. 2013;13:749–54.
3. Vilain C, Rens C, Aeby A, et al. A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome. Clin Genet. 2012;82:264–70.
4. Björkman K, Sofou K, Darin N, et al. Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1. Mitochondrion. 2015;21:33–40.
5. Lal D, Becker K, Motameny S, et al. Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis. Neurogenetics. 2013;14:85–7.
Cited by 11 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. NDUFV1-Related Mitochondrial Complex-1 Disorders: A Retrospective Case Series and Literature Review;Pediatric Neurology;2024-06
2. Systematic approach to diagnose inborn neurometabolic disorders;Neuropediatrics - Recent Advances and Novel Therapeutic Approaches;2023-08-24
3. Neuroimaging in mitochondrial disease;Mitochondrial Diseases;2023
4. The neuropathologic findings in a case of progressive cavitating leukoencephalopathy due to NDUFV1 pathogenic variants;Acta Neuropathologica Communications;2022-09-26
5. Effects of Agaricus blazei acidic polysaccharide on the aging of mice through keap1-Nrf2/ARE and MAPKs signal pathway;Electronic Journal of Biotechnology;2022-05
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