Publikace
- Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman2013 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu, Přírodovědecká fakulta
- Okulofaryngeální muskulární dystrofie v populaci České republiky2013 | 2. lékařská fakulta
- CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel2013 | 2. lékařská fakulta
- Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype - Usefulness of human mapping chip linkage analysis in a Czech family2012 | 2. lékařská fakulta
- Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene2010 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease2010 | 2. lékařská fakulta
- Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study2008 | 2. lékařská fakulta
- Spinal deformities in hereditary motor and sensory neuropathy - A retrospective qualitative, quantitative, genotypical, and familial analysis of 175 patients2007 | 2. lékařská fakulta
- Effect of an R69C Mutation in the Myelin Protein Zero Gene on Myelination and Ion Channel Subtypes2006 | 2. lékařská fakulta
- Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients2006 | 2. lékařská fakulta
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