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Leigh syndrome
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Mgr. Marie Vanišová Ph.D.
Academic staff at First Faculty of Medicine
17 publications
Publications
publication
Non-invasive screening of cytochrome c Oxidase Deficiency in Children Using a Dipstick Immunocapture Assay
2014 |
First Faculty of Medicine
publication
Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG
2023 |
First Faculty of Medicine
publication
Mitochondrial Dysfunction in a High Intraocular Pressure-Induced Retinal Ischemia Minipig Model
2022 |
First Faculty of Medicine, Faculty of Science
publication
Mitochondrial organization and structure are compromised in fibroblasts from patients with Huntington's disease
2022 |
First Faculty of Medicine
publication
Homozygous missense mutation in UQCRC2 associated with severe encephalomyopathy, mitochondrial complex III assembly defect and activation of mitochondrial protein quality control
2021 |
First Faculty of Medicine, Faculty of Science, Second 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
Isolation and Characterization of Small Extracellular Vesicles from Porcine Blood Plasma, Cerebrospinal Fluid, and Seminal Plasma
2019 |
First Faculty of Medicine
publication
Deterioration of mitochondrial bioenergetics and ultrastructure impairment in skeletal muscle of a transgenic minipig model in the early stages of Huntington's disease
2019 |
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
publication
A transgenic minipig model of Huntington's disease shows early signs of behavioral and molecular pathologies
2018 |
First Faculty of Medicine, Faculty of Science, Central Library of Charles University
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