Marketa Tesarova

General University Hospital in Prague

Czech Republic

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Articles (17)

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2025

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2025

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2024

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2023

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2021

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2021

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2021

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2021

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2021

Collaborators (4)

Hana Stufkova

General University Hospital in Prague

CZECH REPUBLIC

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Petr Pecina

Institute of Physiology of the Czech Academy of Sciences

CZECH REPUBLIC

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Lenka Noskova

Charles University

CZECH REPUBLIC

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Nikol Volfová

University of Arkansas for Medical Sciences Department of Pediatrics

CZECH REPUBLIC

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Marketa Tesarova

Research Interests

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Articles (17)

Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations

Cryopreserved PBMCs can be used for the analysis of mitochondrial respiration and serve as a diagnostic tool for mitochondrial diseases

Dystonia: A novel sign of the Smith-Magenis syndrome - A three-case report

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

Case report: A rare variant m.4135T>C in the <i>MT-ND1</i> gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes.

Case report: A rare variant m.4135T & gt;C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

A Novel MTTK Gene Variant m.8315A > C as a Cause of MERRF Syndrome

Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant

DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

Pierpont syndrome due to mutation c.1337A > G in TBL1XR1 gene

Combined valve replacement and aortocoronary bypass in an adult mucopolysaccharidosis type VII patient

GPD1 Deficiency - Underdiagnosed Cause of Liver Disease

Homozygous missense mutation in UQCRC2 associated with severe encephalomyopathy, mitochondrial complex III assembly defect and activation of mitochondrial protein quality control

Knock-Out of ACBD3 Leads to Dispersed Golgi Structure, but Unaffected Mitochondrial Functions in HEK293 and HeLa Cells

Microarray and qPCR Analysis of Mitochondrial Metabolism Activation during Prenatal and Early Postnatal Development in Rats and Humans with Emphasis on CoQ(10) Biosynthesis

Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?

Collaborators (4)

Hana Stufkova

Petr Pecina

Lenka Noskova

Nikol Volfová

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