Publications
- Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman2013 | First Faculty of Medicine, Second 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
- A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT2008 | Second Faculty of Medicine
- SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve2004 | Second Faculty of Medicine
- 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
- Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies2023 | Second Faculty of Medicine
- SPG11: clinical and genetic features of seven Czech patients and literature review2022 | First Faculty of Medicine, Second Faculty of Medicine
- Czech family confirms the new 1p36.13-1p36.12 microdeletion syndrome2022 | Second Faculty of Medicine
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