Publications
- Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder2013 | First Faculty of Medicine
- Mitochondrial DNA content and expression of genes involved in mtDNA transcription, regulation and maintenance during human fetal development2010 | 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
- Polarographic Evaluation of Mitochondrial Enzymes Activity in Isolated Mitochondria and in Permeabilized Human Muscle Cells with Inherited Mitochondrial Defects2003 | First Faculty of Medicine
- Spectrophotometric analyses of respiratory chain complexes in isolated muscle mitochondria and platelets in patients with mitochondrial disordersPublication without faculty affiliation
- Analyses of respiratory chain complexes in isolated plateletsPublication 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
- ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability2023 | First Faculty of Medicine
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