- DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome2022 | First Faculty of Medicine
- Maternal inherited Leigh syndrome due to mutation 836G>A in mtDNAPublication without faculty affiliation
- Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome2003 | Faculty of Physical Education and Sport
- Decreased affinity to oxygenof cytochrome c oxidase in Leigh syndrome caused by SURF1 mutationsPublication without faculty affiliation
- Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome at normoxia and hypoxiaPublication without faculty affiliation
- Maternal inherited Leigh syndrom due to mutation 8363G:A in mtDNAPublication without faculty affiliation
- Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome2003 | First Faculty of Medicine
- Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndromePublication without faculty affiliation
- A Novel Missense Mutation 574C-T in SURF1 Gene - Biochemical and Molecular Studies in Seven Children with Leigh Disease2002 | First Faculty of Medicine
- Heterogeneous Manifestation of Heteroplasmic mtDNA Mutation 8993T-G in Two Families2002 | First Faculty of Medicine
- A Novel Missense Mutation 574C-T in SURF1 Gene - Biochemical and Molecular Studies in Seven Children with Leigh Disease2002 | Faculty of Physical Education and Sport
- Heterogeneous Manifestation of Heteroplasmic mtDNA Mutation 8993T-G in Two Families2002 | Faculty of Physical Education and Sport
- Cytochrome C oxidase deficiency in childhood2009 | First Faculty of Medicine
- SURF1 missense mutations promote a mild Leigh phenotype2009 | First Faculty of Medicine
- Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations2004 | First Faculty of Medicine
- Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations2004 | Faculty of Physical Education and Sport
- A Novel Mutation in SURF1 Causes Skipping of Exon 8 in a Patient with Cytochrome c Oxidase-Deficient Leigh Syndrome and Hypertrichosis2001 | First Faculty of Medicine
- 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
- Non-invasive screening of cytochrome c Oxidase Deficiency in Children Using a Dipstick Immunocapture Assay2014 | First Faculty of Medicine
- Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I2020 | First Faculty of Medicine
- Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations2012 | First Faculty of Medicine
- Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing2012 | 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
- Loss of function of Sco1 and its interaction with cytochrome c oxidase2009 | 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
- Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB92012 | First Faculty of Medicine
- Hyperammonemic crisis in a child with ATP synthase deficiency caused by mtDNA mutation m.8851T>C2015 | 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
- Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T > C in MTND52016 | First Faculty of Medicine, Second Faculty of Medicine
- Altered properties of mitochondrial ATP-synthase in patients with a T --> G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA1995 | First Faculty of Medicine