about
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathyTissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.Molecular diagnosis in mitochondrial complex I deficiency using exome sequencingNoninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometryTwo novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus-benefit of genetic testing.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.Large proteoglycan complexes and disturbed collagen architecture in the corneal extracellular matrix of mucopolysaccharidosis type VII (Sly syndrome).Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.Mitochondrial membrane assembly of TMEM70 protein.Cluster of patients with Familial Mediterranean fever and heterozygous carriers of mutations in MEFV gene in the Czech Republic.TMEM70 deficiency: long-term outcome of 48 patients.Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene.Novel mutations in the TAZ gene in patients with Barth syndrome.Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids.Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene.Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.OPA1 analysis in an international series of probands with bilateral optic atrophy.Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families.Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5.The phenotypic spectrum of fifty Czech m.3243A>G carriers.Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures.Mitochondrial DNA content and expression of genes involved in mtDNA transcription, regulation and maintenance during human fetal development.High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency.Revisiting mitochondrial diagnostic criteria in the new era of genomics.High-resolution melting analysis for identifying sequence variations in nuclear genes for assembly factors and structural subunits of cytochrome c oxidase.Erratum to: TMEM70 deficiency: long-term outcome of 48 patientsAnalysis of Mitochondrial Network Morphology in Cultured Myoblasts from Patients with Mitochondrial DisordersNeonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosisUltrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from α-mannosidosis patientsThe impact of mitochondrial tRNA mutations on the amount of ATP synthase differs in the brain compared to other tissuesA novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: Further evidence for possible bias in retroposon integrationUltrastructural Changes of Mitochondria in the Cultivated Skin Fibroblasts of Patients with Point Mutations in Mitochondrial DNALate-presenting congenital diaphragmatic hernia in a child with TMEM70 deficiencyReply to Comment on: Sideroblastic anemia associated with multisystem mitochondrial disordersSideroblastic anemia associated with multisystem mitochondrial disorders
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Marketa Tesarova
@ast
Marketa Tesarova
@en
Marketa Tesarova
@es
Marketa Tesarova
@nl
Marketa Tesarova
@sl
type
label
Marketa Tesarova
@ast
Marketa Tesarova
@en
Marketa Tesarova
@es
Marketa Tesarova
@nl
Marketa Tesarova
@sl
prefLabel
Marketa Tesarova
@ast
Marketa Tesarova
@en
Marketa Tesarova
@es
Marketa Tesarova
@nl
Marketa Tesarova
@sl
P1053
I-1531-2016
P106
P1153
6602137889
P31
P496
0000-0002-5141-2289