Associated Papers
Novel intronic variant in NDUFS7 gene results in mitochondrial complex I assembly defect with early basal ganglia and midbrain involvement with progressive neuroimaging findings.
Oikarainen J et al.
Mitochondrion, 2025
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients
Genetic aberration analysis of mitochondrial respiratory complex I implications in the development of neurological disorders and their clinical significance.
Dar GM et al.
Ageing Research Reviews, 2023
A Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype.
van der Weijden MCM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
33200438 (PubMed )
Supplement: MDS-36-729-s002.docx
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
Disease-causing mutations in subunits of OXPHOS complex I affect certain physical interactions.
Barshad G et al.
Scientific Reports, 2019
Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.
Dufva O et al.
Nature Communications, 2018
29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM5_ESM.xlsx › ANKL3
A mutation in the PSST homologue of complex I (NADH:ubiquinone oxidoreductase) from Tetranychus urticae is associated with resistance to METI acaricides.
Bajda S et al.
Insect Biochemistry and Molecular Biology, 2017
The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.
Lim CH et al.
Oncotarget, 2016
27175599 (PubMed )
Supplement: oncotarget-07-39758-s005.xlsx › TableS4
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
A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome.
Lebon S et al.
Molecular Genetics and Metabolism, 2007
Molecular diagnostics of mitochondrial disorders.
Rötig A et al.
Biochimica Et Biophysica Acta, 2004
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