Publications
- Novel Mutations in the TAZ Gene in Patients with Barth Syndrome2013 | First Faculty of Medicine
- Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing2012 | First Faculty of Medicine
- Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB92012 | First Faculty of Medicine
- Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency2012 | First Faculty of Medicine
- High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency2012 | 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
- Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures2011 | Faculty of Science, First Faculty of Medicine
- Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures2011 | First Faculty of Medicine
- Myoclonic Epilepsy and Deafness in Siblings with the 7512T>C Mutation in the Mitochondrial Encoded tRNA(Ser(UCN)) Gene - Case Reports2010 | Faculty of Science, Faculty of Physical Education and Sport, First Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation2010 | First Faculty of Medicine
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