Classes
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
- Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing2012 | First Faculty of Medicine
- Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis2012 | First Faculty of Medicine
- Cytochrome C oxidase deficiency in childhood2009 | First Faculty of Medicine
- Loss of function of Sco1 and its interaction with cytochrome c oxidase2009 | 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
- Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome2003 | 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
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