Publications
- Sideroblastic anemia associated with multisystem mitochondrial disorders2019 | First Faculty of Medicine, Second Faculty of Medicine
- Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature2017 | First Faculty of Medicine, Second Faculty of Medicine
- Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF62016 | First Faculty of Medicine
- Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders2014 | First Faculty of Medicine
- Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation2012 | First Faculty of Medicine
- Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations2012 | 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
- H-MitoArray and gene expression analysis in 13 patients with mitochondrial ATP synthase deficiencyPublication without faculty affiliation
- Development of a human mitochondrial oligonucleotide microarray(H-MitoArray) and gene expression analysis in 13 patients with mitochondrial ATP synthase deficiencyPublication without faculty affiliation
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