Publications
- The cause of hereditary hearing loss in GJB2 heterozygotes-a comprehensive study of the GJB2/DFNB1 region2021 | Second Faculty of Medicine
- Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia2021 | Second Faculty of Medicine
- Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing2020 | Second Faculty of Medicine, First Faculty of Medicine
- Demyelinating Charcot Marie Tooth neuropathy associated with FBLN5 mutations2020 | Second Faculty of Medicine
- Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene2019 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 22018 | Second Faculty of Medicine
- HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 82017 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Improving diagnosis of inherited peripheral neuropathies through gene panel analysis2016 | Second Faculty of Medicine
- Hereditary motor neuropathies2016 | Second Faculty of Medicine
- Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom2015 | Second Faculty of Medicine
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