Publications
- Oculopharyngeal muscular dystrophy in the population of the Czech Republic2013 | Second Faculty of Medicine
- CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel2013 | Second Faculty of Medicine
- Pulmonary function in patients with hereditary motor and sensory neuropathy: A comparison of patients with and without spinal deformity2012 | Second Faculty of Medicine
- Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene2010 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study2008 | Second Faculty of Medicine
- Hereditary ataxias in the Czech Republic1998 | Second Faculty of Medicine, Central Library of Charles University
- Diagnostic utility of neurofilament markers for MND is limited in restricted disease phenotype and for differentiation from compressive myeloradiculopathies2023 | Second Faculty of Medicine, Central Library of Charles University
- Genetic findings in Czech patients with limb girdle muscular dystrophy2023 | Second Faculty of Medicine, First Faculty of Medicine
- Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies2023 | Second Faculty of Medicine
- Thermal quantitative sensory testing as a screening tool for cardiac autonomic neuropathy in patients with diabetes mellitus2022 | Second Faculty of Medicine, Central Library of Charles University
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