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SURF1
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SURF1 missense mutations promote a mild Leigh phenotype
2009 |
First Faculty of Medicine
publication
A Novel Missense Mutation 574C-T in SURF1 Gene - Biochemical and Molecular Studies in Seven Children with Leigh Disease
2002 |
Faculty of Physical Education and Sport
publication
A Novel Missense Mutation 574C-T in SURF1 Gene - Biochemical and Molecular Studies in Seven Children with Leigh Disease
2002 |
First Faculty of Medicine
publication
Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1
2005 |
First Faculty of Medicine
publication
Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations
2012 |
First Faculty of Medicine
publication
Functional Alteration of Cytochrome c Oxidase (COX) by SURF1
Publication without faculty affiliation
publication
Loss of function of Sco1 and its interaction with cytochrome c oxidase
2009 |
First Faculty of Medicine
publication
Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome
2003 |
First Faculty of Medicine
publication
Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome
Publication without faculty affiliation
publication
Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome
2003 |
Faculty of Physical Education and Sport
publication
Leigh Disease: Biochemical and Molecular Studies in Seven Children with SURF1 Gene Mutations
Publication without faculty affiliation
publication
Decreased affinity to oxygenof cytochrome c oxidase in Leigh syndrome caused by SURF1 mutations
Publication without faculty affiliation
publication
A Novel Mutation in SURF1 Causes Skipping of Exon 8 in a Patient with Cytochrome c Oxidase-Deficient Leigh Syndrome and Hypertrichosis
2001 |
First Faculty of Medicine
publication
Assembly of cytochrome c oxidase in cells with SCO2 and SURF1 mutations
Publication without faculty affiliation
publication
Cytochrome C oxidase deficiency in childhood
2009 |
First Faculty of Medicine
publication
Cytochrome C oxidase subcomplexes in various tissues of patients with SCO2 and SURF1 mutations
Publication without faculty affiliation
publication
Assembly intermediates of cytochrome c oxidase in various tissues of patients with SCO2 and SURF1 mutations
Publication without faculty affiliation
publication
Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations
2004 |
First Faculty of Medicine
publication
Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome at normoxia and hypoxia
Publication without faculty affiliation
publication
Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations
2004 |
Faculty of Physical Education and Sport
publication
Non-invasive screening of cytochrome c Oxidase Deficiency in Children Using a Dipstick Immunocapture Assay
2014 |
First Faculty of Medicine
publication
Biogenesis of Eukaryotic Cytochrome c Oxidase
+1
2006 |
First Faculty of Medicine
publication
Assembly factors and ATP- dependent proteases in cytochrome c oxidase biogenesis
2010 |
First 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
High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency
2012 |
First Faculty of Medicine
publication
Genetic polymorphisms involved in mitochondrial metabolism and pancreatic cancer risk
2021 |
First Faculty of Medicine, Faculty of Medicine in Pilsen, Central Library of Charles University, Third Faculty of Medicine
publication
Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry
2014 |
First Faculty of Medicine