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- Journal Article
- A1
- open access
Clinical heterogeneity in MT-ATP6 pathogenic variants : same genotype—different onset
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- Journal Article
- A1
- open access
New insights into the phenotype of FARS2 deficiency
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- Journal Article
- A1
- open access
Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype
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Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)
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Possible pathogenic mechanism of propofol infusion syndrome involves coenzyme Q
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Effect of resveratrol on cultured skin fibroblasts from patients with oxidative phosphorylation defects
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Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy
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Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
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Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for detection of oxidative phosphorylation defects