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limb girdle muscular dystrophy
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Mgr. Tereza Rákosníková Ph.D.
External person at First Faculty of Medicine
7 publications
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Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes
+1
2023 |
First Faculty of Medicine, Faculty of Science
publication
Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG
2023 |
First Faculty of Medicine
publication
Mitochondrial organization and structure are compromised in fibroblasts from patients with Huntington's disease
2022 |
First Faculty of Medicine
publication
Knock-Out of ACBD3 Leads to Dispersed Golgi Structure, but Unaffected Mitochondrial Functions in HEK293 and HeLa Cells
2021 |
First Faculty of Medicine
publication
Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I
2020 |
First Faculty of Medicine
publication
Stable COX17 Downregulation Leads to Alterations in Mitochondrial Ultrastructure, Decreased Copper Content and Impaired Cytochrome c Oxidase Biogenesis in HEK293 Cells
2019 |
First Faculty of Medicine
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