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Biochimica Et Biophysica Acta. Molecular Basis of Disease|April 18, 2021
Homozygous missense mutation in UQCRC2 associated with severe encephalomyopathy, mitochondrial complex III assembly defect and activation of mitochondrial protein quality controlDaniela Burska, Lukas Stiburek, Jana Krizova, et al.
Genes|December 24, 2021
Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a <i>TCF4</i> Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?Lubica Dudakova, Pavlina Skalicka, Alice E Davidson, et al.
Cardiology in the Young|November 15, 2016
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literatureStella Mazurova, Martin Magner, Vendula Kucerova-Vidrova, et al.
Frontiers in Cell and Developmental Biology|October 16, 2025
Differential regulation of gene co-expression modules in muscles and liver of preterm newbornsPetra Janovska, Tatyana Kobets, Lenka Steiner Mrazova, et al.
Elife|November 20, 2018
Unique morphogenetic signatures define mammalian neck muscles and associated connective tissuesEglantine Heude, Marketa Tesarova, Elizabeth M Sefton, et al.
Orphanet Journal of Rare Diseases|April 24, 2023
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variabilityMartina Skopkova, Hana Stufkova, Vibhuti Rambani, et al.
Translational Lung Cancer Research|November 14, 2025
Identification of a novel RSPO1-NUMT insertion in a LUAD patient cohort and the challenges and insights into NUMT detection highlighting the importance of reference genomes and population databasesIlona Tietzova, Dana Sochorova, Petr Triska, et al.
Pediatric Blood & Cancer|December 28, 2018
Sideroblastic anemia associated with multisystem mitochondrial disordersMarketa Tesarova, Alzbeta Vondrackova, Hana Stufkova, et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology|October 12, 2020
Combined valve replacement and aortocoronary bypass in an adult mucopolysaccharidosis type VII patientJosef Marek, Petr Kuchynka, Vladimir Mikulenka, et al.
Pediatric Research|December 6, 2005
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiencyMarek Böhm, Ewa Pronicka, Elzbieta Karczmarewicz, et al.
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