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MUDr. Radim Mazanec Ph.D.
Academic staff at Second Faculty of Medicine
145 publications
Publications
publication
Oculopharyngeal muscular dystrophy in the population of the Czech Republic
2013 |
Second Faculty of Medicine
publication
CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel
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
Phenotypic Variability in a Large Czech Family with a Dynamin 2-Associated Charcot-Marie-Tooth Neuropathy
2011 |
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
GDAP1 mutations in Czech families with early-onset CMT
2007 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
The brain MR imaging in patients with myotonic dystrophy DM 1
2007 |
Second Faculty of Medicine
publication
Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients
2006 |
Second Faculty of Medicine
publication
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve
2004 |
Second Faculty of Medicine
publication
Molecular-pathologic and genetic diagnostics of limb girdle muscular dystrophy LGMD2A: presentation of first cases diagnosed in the Czech Republic
2004 |
Second Faculty of Medicine
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