Publications
- Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy2011 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene2010 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease2010 | Second Faculty of Medicine
- Spinal deformities in hereditary motor and sensory neuropathy - A retrospective qualitative, quantitative, genotypical, and familial analysis of 175 patients2007 | Second Faculty of Medicine
- Paradoxes of neurogenetic programme: Charcoot Marie Tooth Diseases (CMT) - Hereditary motor sensory neuropathy (HMSN)2003 | Second Faculty of Medicine
- Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): Reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs2000 | 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
- Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies2023 | Second Faculty of Medicine
- Thermal quantitative sensory testing as a screening tool for cardiac autonomic neuropathy in patients with diabetes mellitus2022 | Second Faculty of Medicine, Central Library of Charles University
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