Publications
- ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability2023 | First Faculty of Medicine
- Knock-Out of ACBD3 Leads to Dispersed Golgi Structure, but Unaffected Mitochondrial Functions in HEK293 and HeLa Cells2021 | First 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
- A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome2022 | First Faculty of Medicine
- Mitochondrial organization and structure are compromised in fibroblasts from patients with Huntington's disease2022 | First Faculty of Medicine
- Sideroblastic anemia associated with multisystem mitochondrial disorders2019 | First Faculty of Medicine, Second Faculty of Medicine
- Deterioration of mitochondrial bioenergetics and ultrastructure impairment in skeletal muscle of a transgenic minipig model in the early stages of Huntington's disease2019 | First Faculty of Medicine
- A transgenic minipig model of Huntington's disease shows early signs of behavioral and molecular pathologies2018 | First Faculty of Medicine, Faculty of Science, Central Library of Charles University
- Mitochondrial Metabolism in a Large-Animal Model of Huntington Disease: The Hunt for Biomarkers in the Spermatozoa of Presymptomatic Minipigs2017 | First Faculty of Medicine
- The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease2016 | First Faculty of Medicine
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