about
Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylationNoninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometryThe mammalian homologue of yeast Afg1 ATPase (lactation elevated 1) mediates degradation of nuclear-encoded complex IV subunits.LACE1 interacts with p53 and mediates its mitochondrial translocation and apoptosisTwo novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus-benefit of genetic testing.Clinical manifestation of mitochondrial diseases.Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II.Mitochondrial Respiration in the Platelets of Patients with Alzheimer's Disease.Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.Impact of age at onset and newborn screening on outcome in organic acidurias.MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning.The phenotypic spectrum of fifty Czech m.3243A>G carriers.Occipitocervical stabilization using bilateral laminar C2 screws in children with mucopolysaccharidosis IVA.High-resolution melting analysis for identifying sequence variations in nuclear genes for assembly factors and structural subunits of cytochrome c oxidase.Analysis of expression profiles of genes involved in F(o)F(1)-ATP synthase biogenesis during perinatal development in rat liver and skeletal muscle.Erratum to: TMEM70 deficiency: long-term outcome of 48 patientsActivity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiencyErratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentationErratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotypeAnalysis of Mitochondrial Network Morphology in Cultured Myoblasts from Patients with Mitochondrial DisordersIsoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances[Psychiatric disturbances in five patients with MELAS syndrome]
P50
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description
onderzoeker
@nl
researcher ORCID ID = 0000-0003-3336-7872
@en
name
Jiří Zeman
@ast
Jiří Zeman
@en
Jiří Zeman
@nl
type
label
Jiří Zeman
@ast
Jiří Zeman
@en
Jiří Zeman
@nl
prefLabel
Jiří Zeman
@ast
Jiří Zeman
@en
Jiří Zeman
@nl
P106
P31
P496
0000-0003-3336-7872