189th ENMC International workshop Complex I deficiency: Diagnosis and treatment 20–22 April 2012, Naarden, The Netherlands
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
Reference45 articles.
1. Complex I deficiency: clinical features, biochemistry and molecular genetics;Fassone;J Med Genet,2012
2. Crystal structure of the entire respiratory complex I;Baradaran;Nature,2013
3. Structural basis for the mechanism of respiratory complex I;Berrisford;J Biol Chem,2009
4. A ternary mechanism for NADH oxidation by positively charged electron acceptors, catalyzed at the flavin site in respiratory complex I;Birrell;FEBS Lett,2011
5. Understanding mitochondrial complex I assembly in health and disease;Mimaki;Biochim Biophys Acta,2012
Cited by 6 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. Stimulation of cholesterol biosynthesis in mitochondrial complex I-deficiency lowers reductive stress and improves motor function and survival in mice;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2021-04
2. Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency;Neuromuscular Disorders;2017-05
3. Development of pharmacological strategies for mitochondrial disorders;British Journal of Pharmacology;2014-03-28
4. Long Survival in Patients With Leigh Syndrome and the m.10191T>C Mutation in MT-ND3;Journal of Child Neurology;2013-11-27
5. Focal segmental glomerulosclerosis is associated with a PDSS2 haplotype and, independently, with a decreased content of coenzyme Q10;American Journal of Physiology-Renal Physiology;2013-10-15
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