List of works - Markéta Tesařová

A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: Further evidence for possible bias in retroposon integration

article

Analysis of Mitochondrial Network Morphology in Cultured Myoblasts from Patients with Mitochondrial Disorders

scientific article published on 27 July 2015

Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene.

scientific article published in October 2004

Cluster of patients with Familial Mediterranean fever and heterozygous carriers of mutations in MEFV gene in the Czech Republic.

scientific article published on 20 December 2013

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency. ⬇️

scientific article

Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene

scientific article published on 13 November 2012

Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures.

scientific article published on 12 November 2010

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

scientific article published on 01 May 2015

Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids

scientific article published on 6 July 2012

Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families.

scientific article published in January 2017

High-resolution melting analysis for identifying sequence variations in nuclear genes for assembly factors and structural subunits of cytochrome c oxidase.

scientific article published in January 2015

High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency

scientific article published on 17 May 2012

Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.

scientific article published on 10 July 2013

Large proteoglycan complexes and disturbed collagen architecture in the corneal extracellular matrix of mucopolysaccharidosis type VII (Sly syndrome).

scientific article

Late-presenting congenital diaphragmatic hernia in a child with TMEM70 deficiency

scientific article published on 01 March 2017

Mitochondrial DNA content and expression of genes involved in mtDNA transcription, regulation and maintenance during human fetal development

scientific article published on 20 January 2010

Mitochondrial membrane assembly of TMEM70 protein.

scientific article published on 25 February 2014

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

scientific article

Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I

scientific article published on 29 January 2020

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

scientific article

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis

scientific article published on 10 January 2012

Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.

scientific article

Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry

scientific article

Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.

scientific article published on 7 February 2013

Novel mutations in the TAZ gene in patients with Barth syndrome

scientific article published in January 2013

OPA1 analysis in an international series of probands with bilateral optic atrophy

scientific article

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

scientific article

Reply to Comment on: Sideroblastic anemia associated with multisystem mitochondrial disorders

scientific article published on 18 September 2019

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

scientific article published on 2 December 2005

Revisiting mitochondrial diagnostic criteria in the new era of genomics

scientific article published on 26 October 2017

Sideroblastic anemia associated with multisystem mitochondrial disorders

scientific article published on 26 December 2018

TMEM70 deficiency: long-term outcome of 48 patients

scientific article published on 18 October 2014

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

scientific article

The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions

scientific article published on 22 October 2020

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort

scientific article published on 10 November 2018

The impact of mitochondrial tRNA mutations on the amount of ATP synthase differs in the brain compared to other tissues

The phenotypic spectrum of fifty Czech m.3243A>G carriers.

scientific article published on 6 June 2016

Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature

scientific article published on 14 November 2016

Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1

scientific article

Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus-benefit of genetic testing.

scientific article

Ultrastructural Changes of Mitochondria in the Cultivated Skin Fibroblasts of Patients with Point Mutations in Mitochondrial DNA

scientific article published on 01 July 2006

Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from α-mannosidosis patients

Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5.

scientific article published on 19 February 2016

List of works by Markéta Tesařová

A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: Further evidence for possible bias in retroposon integration

Analysis of Mitochondrial Network Morphology in Cultured Myoblasts from Patients with Mitochondrial Disorders

Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene.

Cluster of patients with Familial Mediterranean fever and heterozygous carriers of mutations in MEFV gene in the Czech Republic.

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency. ⬇️

Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene

Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures.

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids

Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families.

High-resolution melting analysis for identifying sequence variations in nuclear genes for assembly factors and structural subunits of cytochrome c oxidase.

High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency

Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.

Large proteoglycan complexes and disturbed collagen architecture in the corneal extracellular matrix of mucopolysaccharidosis type VII (Sly syndrome).

Late-presenting congenital diaphragmatic hernia in a child with TMEM70 deficiency

Mitochondrial DNA content and expression of genes involved in mtDNA transcription, regulation and maintenance during human fetal development

Mitochondrial membrane assembly of TMEM70 protein.

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis

Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.

Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry

Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.

Novel mutations in the TAZ gene in patients with Barth syndrome

OPA1 analysis in an international series of probands with bilateral optic atrophy

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

Reply to Comment on: Sideroblastic anemia associated with multisystem mitochondrial disorders

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

Revisiting mitochondrial diagnostic criteria in the new era of genomics

Sideroblastic anemia associated with multisystem mitochondrial disorders

TMEM70 deficiency: long-term outcome of 48 patients

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort

The impact of mitochondrial tRNA mutations on the amount of ATP synthase differs in the brain compared to other tissues

The phenotypic spectrum of fifty Czech m.3243A>G carriers.

Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature

Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1

Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus-benefit of genetic testing.

Ultrastructural Changes of Mitochondria in the Cultivated Skin Fibroblasts of Patients with Point Mutations in Mitochondrial DNA

Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from α-mannosidosis patients

Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5.