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Charcot-Marie-tooth disease
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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
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
publication
A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT
2008 |
Second Faculty of Medicine
publication
GDAP1 mutations in Czech families with early-onset CMT
2007 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Effect of an R69C Mutation in the Myelin Protein Zero Gene on Myelination and Ion Channel Subtypes
2006 |
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
publication
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 PCRs
2000 |
Second Faculty of Medicine
publication
Charcot-Marie-Tooth gonosomal dominant type (CMTX1) - First findings of mutations in the gene for connexin 32 in the Czech Republic
2000 |
Second Faculty of Medicine
publication
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 markers
1999 |
Second Faculty of Medicine
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