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Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency
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Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3
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Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses
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Ultrastructural mitochondrial alterations in equine myopathies of unknown origin
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- Journal Article
- A1
- open access
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency
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Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene
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Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy
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Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA
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Abdominal pain and vomiting as first sign of mitochondrial disease
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A new family with the mitochondrial tRNAGLU gene mutation m.14709T > C presenting with hydrops fetalis