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
- A new case of ALG8 deficiency (CDG Ih)2009 | First Faculty of Medicine, Third Faculty of Medicine
- Polarographic Evaluation of Mitochondrial Enzymes Activity in Isolated Mitochondria and in Permeabilized Human Muscle Cells with Inherited Mitochondrial Defects2003 | 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
- Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches2023 | First Faculty of Medicine
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