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Scientific Reports|May 24, 2022
Resolving complex cartilage structures in developmental biology via deep learning-based automatic segmentation of X-ray computed microtomography imagesJan Matula, Veronika Polakova, Jakub Salplachta, et al.
Acta Ophthalmologica|November 19, 2016
OPA1 analysis in an international series of probands with bilateral optic atrophyPetra Liskova, Marketa Tesarova, Lubica Dudakova, et al.
The Biochemical Journal|August 9, 2005
Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1Lukas Stiburek, Katerina Vesela, Hana Hansikova, et al.
Acta Ophthalmologica|February 8, 2013
Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorderPetra Liskova, Olga Ulmanova, Petr Tesina, et al.
Ophthalmic Genetics|February 20, 2016
Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5Hana Kolarova, Petra Liskova, Marketa Tesarova, et al.
Biochimica Et Biophysica Acta|March 6, 2008
The impact of mitochondrial tRNA mutations on the amount of ATP synthase differs in the brain compared to other tissuesDaniela Fornuskova, Olga Brantova, Marketa Tesarova, et al.
Molecular Genetics and Metabolism|December 5, 2012
Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 geneTomas Honzik, Marketa Tesarova, Kamila Vinsova, et al.
International Heart Journal|December 22, 2012
Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult maleTomas Palecek, Marketa Tesarova, Petr Kuchynka, et al.
BMC Pediatrics|January 31, 2020
Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex ITereza Danhelovska, Hana Kolarova, Jiri Zeman, et al.
Journal of Inherited Metabolic Disease|January 11, 2012
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosisTomas Honzik, Marketa Tesarova, Martin Magner, et al.
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