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Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
TLDR
The role of HARS mutations in peripheral neuropathy is demonstrated and the genetic and clinical spectrum of aminoacyl-tRNA synthetase-related human disease is expanded, including four young patients presenting with pure motor axonal neuropathy. Expand
Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene.
TLDR
Another patient with the p.R190W mutation in the MORC2 gene is reported and this mutation is a hot spot and probably the most frequent mutation in this gene, confirming the causality of this gene for the severe CMT2 with striking proximal weakness. Expand
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis
TLDR
MPS gene panel enables testing of all known IPN causes at once with high coverage and at an affordable cost making it truly a method of choice also in IPN. Expand
DFNB49 is an important cause of non‐syndromic deafness in Czech Roma patients but not in the general Czech population
TLDR
DFNB49 is an important cause of non‐syndromic deafness in Czech Roma patients but not in the general Czech population. Expand
DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family.
TLDR
Homozygosity mapping is a powerful method for identification of genes in heterogeneous recessive diseases and this is the first report of DFNB35 mutations in the Czech Republic and it seems to be a rare cause of NSHL. Expand
Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy.
TLDR
A second family with non-syndromic inherited demyelinating motor and sensory neuropathy (HMSN I) with FBLN5 mutation is reported and mutations in this family are confirmed as the new cause of HMSN I. Expand
Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients.
TLDR
Mutations in eight small NSHL-AR genes are not a frequent cause of hereditary hearing loss in the Czech Republic and this diagnostic approach permitted the clarification of HL in only one patient - two heterozygous mutations were detected in LHFPL5 gene for the first time in Central Europe. Expand
HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL
TLDR
The group of 20 patients with HMSNR presented here is the first report about the prevalence of HMSNR from central Europe and appears to be twice more frequent than HMSNL. Expand
Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman
TLDR
The proband’s father is a heterozygote due to the somatic mosaicism for the GJB1 mutation in his leukocytes (detected by DNA sequencing) and also in his germ cells as confirmed by the unexpectedly different genotypes in his four daughters. Expand
Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene
TLDR
If audiological findings in patients with biallelic pathogenic mutations affecting STRC have the characteristic features and shape of audiological curves and if there are genotype/phenotype correlations in relation to various types of STRC mutations is discovered. Expand
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