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
- 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
- Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease2010 | Second Faculty of Medicine
- Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy - A new distal hereditary motor neuropathy phenotype2009 | Second Faculty of Medicine
- Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study2008 | Second Faculty of Medicine
- 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 disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): Reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs2000 | Second Faculty of Medicine
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