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Marys
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prof. MUDr. Pavel Seeman Ph.D.
Academic staff at Second Faculty of Medicine
162 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 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Science
publication
Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients
2013 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy
2013 |
Second Faculty of Medicine
publication
Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype - Usefulness of human mapping chip linkage analysis in a Czech family
2012 |
Second Faculty of Medicine
publication
Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy
2011 |
First Faculty of Medicine, Second 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 |
First Faculty of Medicine, Second 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
Utility of Charcot-Marie-Tooth Neuropathy Score in Children With Type 1A Disease
2010 |
Second Faculty of Medicine
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