Publications
- Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease2010 | Second Faculty of Medicine
- Inherited neuropathy-clinical and electrophysiological findings in the family with CMT X linked neuropathy2002 | Second Faculty of Medicine, Central Library of Charles University
- 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
- Hereditary neuropathies in childhood2022 | Second Faculty of Medicine
- Basics of pediatric neurology2021 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
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