Marketa Tesarova
Prague, PR, Czech Republic
Last Updated: 09/26/2026
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Found 69 publications
Long-term Natural History and Elosulfase Alfa Treatment for Mucopolysaccharidosis Type IVA: A Single-Center Study in the Czech Republic.
Journal: Research square
Published: April 03, 2026
Long-term follow-up and response to elosulfase alfa in mucopolysaccharidosis type IVA: a single-center cohort from the Czech Republic.
Journal: Orphanet journal of rare diseases
Published: March 04, 2026
Differential regulation of gene co-expression modules in muscles and liver of preterm newborns.
Journal: Frontiers in cell and developmental biology
Published: June 14, 2025
Recessive variants in mitochondrial complex I nuclear subunits are an underrated cause of optic atrophy.
Journal: Brain : a journal of neurology
Published: June 13, 2025
Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.
Journal: Brain : a journal of neurology
Published: June 13, 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 databases.
Journal: Translational lung cancer research
Published: May 22, 2025
Cryopreserved PBMCs can be used for the analysis of mitochondrial respiration and serve as a diagnostic tool for mitochondrial diseases.
Journal: Analytical biochemistry
Published: September 19, 2024
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.
Journal: Journal of inherited metabolic disease
Published: July 02, 2024
Dystonia: A novel sign of the Smith-Magenis syndrome - A three-case report.
Journal: Clinical parkinsonism & related disorders
Published: April 19, 2024
Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes.
Journal: Frontiers in genetics
Published: March 08, 2023
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.
Journal: Orphanet journal of rare diseases
Published: December 02, 2022
A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome
Journal: Genes
Published: June 01, 2022
Last Updated: 09/26/2026