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MUDr. Radim Mazanec Ph.D.
Academic staff at Second Faculty of Medicine
145 publications
Publications
publication
Spinocerebellar Ataxias Type 8, 12, and 17 and Dentatorubro-Pallidoluysian Atrophy in Czech Ataxic Patients
2013 |
Second Faculty of Medicine, First Faculty of Medicine, Central Library of Charles University
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 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
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
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
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study
2008 |
Second Faculty of Medicine
publication
The brain MR imaging in patients with myotonic dystrophy DM 1
2007 |
Second Faculty of Medicine
publication
Effect of an R69C Mutation in the Myelin Protein Zero Gene on Myelination and Ion Channel Subtypes
2006 |
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
publication
Inherited neuropathy-clinical and electrophysiological findings in the family with CMT X linked neuropathy
2002 |
Second Faculty of Medicine, Central Library of Charles University
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