Associated Papers
Lip cyanosis as the first symptom of Leigh syndrome associated with mitochondrial complex I deficiency due to a compound heterozygous NDUFS1 mutation: A case report.
Men L et al.
Medicine, 2022
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.
Koene S et al.
Journal of Inherited Metabolic Disease, 2012
22644603 (PubMed )
Supplement: 10545_2012_9492_MOESM1_ESM.xls › Blad1
Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells.
Invernizzi F et al.
Mitochondrion, 2012
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
Haack TB et al.
Journal of Medical Genetics, 2012
Mitochondrial Oxidative Stress due to Complex I Dysfunction Promotes Fibroblast Activation and Melanoma Cell Invasiveness.
Taddei ML et al.
Journal of Signal Transduction, 2012
Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1.
Ferreira M et al.
Neurogenetics, 2011
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