Classes
Publications
- Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop2018 | First Faculty of Medicine
- 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
- YME1L controls the accumulation of respiratory chain subunits and is required for apoptotic resistance, cristae morphogenesis, and cell proliferation2012 | First Faculty of Medicine
- Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures2011 | First Faculty of Medicine, Faculty of Science
- Placental tissue as model for pilot study focused on RNA analysis from human foetal tissue2011 | First Faculty of Medicine
- Rare cause of blindness in patient with nasal polyposis: Lebers hereditary neuropathy of the optic nerve2011 | First Faculty of Medicine
- Histopathological Diagnosis of Mitochondrial Myopathies – Indications and the Utility of Muscle Biopsy2011 | First Faculty of Medicine
- Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures2011 | First Faculty of Medicine
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