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mitochondrie
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Kamila Vinšová
Person without affiliation with CUNI
13 publications
Publications
publication
Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I
2020 |
First Faculty of Medicine
publication
Sideroblastic anemia associated with multisystem mitochondrial disorders
2019 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders
2014 |
First 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
YME1L controls the accumulation of respiratory chain subunits and is required for apoptotic resistance, cristae morphogenesis, and cell proliferation
2012 |
First Faculty of Medicine
publication
Myoclonic Epilepsy and Deafness in Siblings with the 7512T>C Mutation in the Mitochondrial Encoded tRNA(Ser(UCN)) Gene - Case Reports
2010 |
Faculty of Science, Faculty of Physical Education and Sport, First Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Mitochondrial DNA content and expression of genes involved in mtDNA transcription, regulation and maintenance during human fetal development
2010 |
First Faculty of Medicine
publication
Myoclonic Epilepsy and Deafness in Siblings with the 7512T > C Mutation in the Mitochondrial Encoded tRNA(Ser(UCN)) Gene - Case Reports
2010 |
First Faculty of Medicine
publication
Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 4, 5a, 6a, 7a and 7b
2010 |
First Faculty of Medicine
publication
Muckle-Wells Syndrome Across Four Generations in One Czech Family: Natural Course of the Disease
2019 |
First Faculty of Medicine
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