Publications
- Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients2013 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Phenotypic Variability in a Large Czech Family with a Dynamin 2-Associated Charcot-Marie-Tooth Neuropathy2011 | Second Faculty of Medicine
- Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy - A new distal hereditary motor neuropathy phenotype2009 | Second Faculty of Medicine
- A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT2008 | Second Faculty of Medicine
- GDAP1 mutations in Czech families with early-onset CMT2007 | First Faculty of Medicine, Second 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
- Congenital hypomyelination in conjunction with de-novo mutation in the gene for the peripheral myelin protein 22 - the first confirmed case in the CR and review of the literature2002 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | Second Faculty of Medicine
- The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation2023 | Second Faculty of Medicine
- A progressive KY myopathy could be caused by a missense pathogenic variant2023 | Second Faculty of Medicine
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