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Research report
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MUDr. Radim Mazanec Ph.D.
Academic staff at Second Faculty of Medicine
145 publications
Publications
publication
Lower urinary tract functions in a series of Charcot-Marie-Tooth neuropathy patients
2014 |
Second Faculty of Medicine
publication
Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman
2013 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Science
publication
Thymoma – a rare cause of pericardial effusion
2013 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy
2011 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Phenotypic Variability in a Large Czech Family with a Dynamin 2-Associated Charcot-Marie-Tooth Neuropathy
2011 |
Second Faculty of Medicine
publication
Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene
2010 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease
2010 |
Second Faculty of Medicine
publication
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study
2008 |
Second Faculty of Medicine
publication
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve
2004 |
Second Faculty of Medicine
publication
Charcot-Marie-Tooth type X : A novel mutation in the Cx32 gene with central conduction slowing
2001 |
Second Faculty of Medicine
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