Publications
- A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome2022 | First Faculty of Medicine
- Dominant (Kjer's) optic atrophy associated with mutations in OPA1 gene2020 | First Faculty of Medicine
- Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I2020 | First Faculty of Medicine
- Changes in Transcription Pattern Lead to a Marked Decrease in COX, CS and SQR Activity After the Developmental Point of the 22nd Gestational Week2018 | First Faculty of Medicine
- Leber hereditary optic neuropathy2017 | First Faculty of Medicine
- Children's Ophthalmology2022 | First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Pilsen, Faculty of Education, Faculty of Medicine in Hradec Králové
- Transient Hyperphosphatasemia in a Child with Autism Spectrum Disorder2022 | First Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Pilsen
- Metabolic myopathies2022 | First Faculty of Medicine
- DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome2022 | First Faculty of Medicine
- Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases2022 | First Faculty of Medicine
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