Publications
- Different laboratory and muscle biopsy findings in a family with an m.8851T > C mutation in the mitochondrial MTATP6 gene2013 | First Faculty of Medicine, Second Faculty of Medicine
- Expression and processing of the TMEM70 protein2011 | First Faculty of Medicine
- Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation2010 | First Faculty of Medicine
- Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated FIFo ATP synthase deficiency2008 | First Faculty of Medicine
- TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy2008 | First Faculty of Medicine
- The impact of mitochondrial tRNA mutations on the amount of ATP synthase differs in the brain compared to other tissues2008 | First Faculty of Medicine
- Mitochondrial Membrane Potential and ATP Production in Primary Disorders of ATP Synthase2004 | First Faculty of Medicine
- Mitochondrial DNA microdeletion 9204delAT in ATP6 gene in family with encephalopathy. Lactic Acidosis and ATP synthase deficiencyPublication without faculty affiliation
- Hepatocellular carcinoma in an infant with tyrosinemia type 12023 | First Faculty of Medicine, Second Faculty of Medicine
- Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes +12023 | Faculty of Science, First Faculty of Medicine
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