Classes
Publications
- Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing2012 | First Faculty of Medicine
- Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male2012 | First Faculty of Medicine
- High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency2012 | First Faculty of Medicine
- Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 4, 5a, 6a, 7a and 7b2010 | First Faculty of Medicine
- Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene2008 | First Faculty of Medicine
- Friedreich's Ataxia: Treatment on the Horizon!2023 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Friedreich's Ataxia in the Czech Republic: New Drug and Treatment Perspectives2023 | First Faculty of Medicine, Faculty of Physical Education and Sport, 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 | First Faculty of Medicine, Faculty of Science
- Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation2023 | First Faculty of Medicine
- ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability2023 | First Faculty of Medicine
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