Publikace
- Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders2014 | 1. lékařská fakulta
- 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 | 1. lékařská fakulta, Přírodovědecká fakulta
- ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability2023 | 1. lékařská fakulta
- A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome2022 | 1. lékařská fakulta
- Mitochondrial organization and structure are compromised in fibroblasts from patients with Huntington's disease2022 | 1. lékařská fakulta
- Knock-Out of ACBD3 Leads to Dispersed Golgi Structure, but Unaffected Mitochondrial Functions in HEK293 and HeLa Cells2021 | 1. lékařská fakulta
- Sideroblastic anemia associated with multisystem mitochondrial disorders2019 | 1. lékařská fakulta, 2. lékařská fakulta
- Deterioration of mitochondrial bioenergetics and ultrastructure impairment in skeletal muscle of a transgenic minipig model in the early stages of Huntington's disease2019 | 1. lékařská fakulta
- A transgenic minipig model of Huntington's disease shows early signs of behavioral and molecular pathologies2018 | 1. lékařská fakulta, Přírodovědecká fakulta, Ústřední knihovna
- Mitochondrial Metabolism in a Large-Animal Model of Huntington Disease: The Hunt for Biomarkers in the Spermatozoa of Presymptomatic Minipigs2017 | 1. lékařská fakulta
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