Publications
- 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
- ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability2023 | First Faculty of Medicine
- 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
- The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease2016 | First Faculty of Medicine
- Acyl-CoA binding domain containing 3 (ACBD3) protein in Huntington's disease human skin fibroblasts2015 | First Faculty of Medicine
- Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders2014 | 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
- Knock-Out of ACBD3 Leads to Dispersed Golgi Structure, but Unaffected Mitochondrial Functions in HEK293 and HeLa Cells2021 | First Faculty of Medicine
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