Publications
- Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman2013 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Science
- Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy2013 | Second Faculty of Medicine
- EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus2013 | Second Faculty of Medicine
- DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family2012 | Second Faculty of Medicine, Central Library of Charles University
- 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
- GDAP1 mutations in Czech families with early-onset CMT2007 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Hereditary peripheral neuropathy2006 | Second Faculty of Medicine
- SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve2004 | Second Faculty of Medicine
- Inherited neuropathy-clinical and electrophysiological findings in the family with CMT X linked neuropathy2002 | Second Faculty of Medicine, Central Library of Charles University
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