Publications
- 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
- Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy2013 | Second Faculty of Medicine
- Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene2010 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- GDAP1 mutations in Czech families with early-onset CMT2007 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Deformities of the spine in hereditary motor-sensory neuropathy2005 | Second Faculty of Medicine
- Paradoxes of neurogenetic programme: Charcoot Marie Tooth Diseases (CMT) - Hereditary motor sensory neuropathy (HMSN)2003 | Second Faculty of Medicine
- Congenital hypomyelination in conjunction with de-novo mutation in the gene for the peripheral myelin protein 22 - the first confirmed case in the CR and review of the literature2002 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- 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
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | Second Faculty of Medicine
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