Publications
- HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 82017 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- COX6A1 mutation causes axonal hereditary motor and sensory neuropathy - the confirmation of the primary report2016 | 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
- Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies2015 | Second Faculty of Medicine
- 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
- Mutations in the LMNA gene do not cause axonal CMT in Czech patients2009 | Second Faculty of Medicine
- A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy2024 | 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
- Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH52023 | Second Faculty of Medicine
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