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heteroplasmy
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Influence on mitochondrial networks and heteroplasmy of mtDNA mutation with doxycycline
Publication without faculty affiliation
publication
Detection of mitochondrial DNA variants at low level heteroplasmy in pediatric CNS and extra-CNS solid tumors with three different enrichment methods
2020 |
Second Faculty of Medicine
publication
Changes in heteroplasmy of mtDNA mutations A3234G and A8344G in fibroblasts during cultivation with ethidium bromide
Publication without faculty affiliation
publication
Heteroplasmy of mtDNA mutations A3243G and A8344G in 29 patients with MELAS and MERRF syndrome
Publication without faculty affiliation
publication
Altered properties of mitochondrial ATP-synthase in patients with a T --> G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA
1995 |
First Faculty of Medicine
publication
A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome
2022 |
First Faculty of Medicine
publication
The phenotypic spectrum of fifty Czech m.3243A > G carriers
2016 |
First Faculty of Medicine
publication
Mitochondria in Human Reproduction: Novel Paradigm in the Onset of Neurodegenerative Disorders
2023 |
Faculty of Medicine in Pilsen
publication
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
2021 |
Second Faculty of Medicine
publication
Different laboratory and muscle biopsy findings in a family with an m.8851T > C mutation in the mitochondrial MTATP6 gene
2013 |
First Faculty of Medicine, Second Faculty of Medicine
publication
The spectrum of mitochondrial DNA (mtDNA) mutations in pediatric CNS tumors
2021 |
Second Faculty of Medicine
publication
Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I
2020 |
First Faculty of Medicine
publication
The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions
2020 |
First Faculty of Medicine, Second Faculty of Medicine