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Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene
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- Journal Article
- A2
- open access
Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease
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Did lightning strike twice?
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A novel compound heterozygous mutation in NFU1 as cause of iron-sulfur cluster biosynthesis
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Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2)
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Fatal outcome of iron-sulfur cluster scaffold NFU1 gene mutations in a neonatal patient
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Polymerase gamma deficiency (POLG): clinical course in a child with two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh’s encephalopathy
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Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for detection of oxidative phosphorylation defects
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JC-1-based fluorescence to evaluate oxidative phosphorylation defects generates both qualitative and quantitative information
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Complex III staining in blue native polyacrylamide gels