Publications
- Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients2013 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- 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
- GDAP1 mutations in Czech families with early-onset CMT2007 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Spinal deformities in hereditary motor and sensory neuropathy - A retrospective qualitative, quantitative, genotypical, and familial analysis of 175 patients2007 | Second Faculty of Medicine
- Paradoxes of neurogenetic programme: Charcoot Marie Tooth Diseases (CMT) - Hereditary motor sensory neuropathy (HMSN)2003 | Second Faculty of Medicine
- Charcot-Marie-Tooth type X : A novel mutation in the Cx32 gene with central conduction slowing2001 | Second Faculty of Medicine
- Charcot-Marie-Tooth 1 (CMT1) and tomaculous neuropathy (HNPP) - Evidence of specific DNA duplications and deletions in the area of 17p11.2-12 by means of a set of dinucleotide markers1999 | Second Faculty of Medicine
- 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
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