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galactosidase-A gene
Person
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Person
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RNDr. Jana Sládková CSc.
Person without affiliation with CUNI
28 publications
Publications
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, Second Faculty of Medicine, Faculty of Science
publication
Analysis of mitochondrial network morphology in cultured myoblasts from patients with mitochondrial disorders
2015 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Acyl-CoA binding domain containing 3 (ACBD3) protein in Huntington's disease human skin fibroblasts
2015 |
First Faculty of Medicine
publication
Mitochondrial metabolism in mammalian spermatozoa - a minireview
2015 |
First Faculty of Medicine
publication
Warburg Effect's Manifestation in Aggressive Pheochromocytomas and Paragangliomas: Insights from a Mouse Cell Model Applied to Human Tumor Tissue
2012 |
First Faculty of Medicine
publication
Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP
2010 |
First Faculty of Medicine
publication
Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from alpha-mannosidosis patients
2009 |
First Faculty of Medicine
publication
Ultrastructural changes of mitochondria in the cultivated skin fibroblasts of patients with point mutations in mitochondrial DNA
2006 |
First 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
Influence on mitochondrial networks and heteroplasmy of mtDNA mutation with doxycycline
Publication without faculty affiliation
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