Publications
- Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman2013 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Science
- 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 | Second Faculty of Medicine
- GDAP1 mutations in Czech families with early-onset CMT2007 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Effect of an R69C Mutation in the Myelin Protein Zero Gene on Myelination and Ion Channel Subtypes2006 | Second Faculty of Medicine
- SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve2004 | Second Faculty of Medicine
- Charcot-Marie-Tooth type X : A novel mutation in the Cx32 gene with central conduction slowing2001 | Second Faculty of Medicine
- Randomized Controlled Trial of Intravenous Immunoglobulin Versus Oral Prednisolone in Chronic Inflammatory Demyelinating Polyradiculoneuropathy2001 | Second Faculty of Medicine
- Charcot-Marie-Tooth gonosomal dominant type (CMTX1) - First findings of mutations in the gene for connexin 32 in the Czech Republic2000 | Second Faculty of Medicine
- Diagnostic utility of neurofilament markers for MND is limited in restricted disease phenotype and for differentiation from compressive myeloradiculopathies2023 | Second Faculty of Medicine, Central Library of Charles University
- Genetic findings in Czech patients with limb girdle muscular dystrophy2023 | Second Faculty of Medicine, First Faculty of Medicine
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