Associated Papers
Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy.
Kalantari S et al.
American Journal of Medical Genetics. Part A, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Insights into complex I assembly: Function of NDUFAF1 and a link with cardiolipin remodeling.
Schiller J et al.
Science Advances, 2022
36383672 (PubMed )
Supplement: sciadv.add3855_sm.pdf
Mitochondrial Cardiomyopathy: Molecular Epidemiology, Diagnosis, Models, and Therapeutic Management.
Yang J et al.
Cells, 2022
Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes.
Mazzaccara C et al.
International Journal of Molecular Sciences, 2021
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene.
Wu L et al.
Mitochondrial Dna. Part A, Dna Mapping, Sequencing, and Analysis, 2016
Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative Diseases.
Giachin G et al.
Frontiers in Molecular Biosciences, 2016
Complex I impairment in mitochondrial diseases and cancer: parallel roads leading to different outcomes.
Iommarini L et al.
The International Journal of Biochemistry & Cell Biology, 2013
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
Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy.
Fassone E et al.
Journal of Medical Genetics, 2011
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