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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
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
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
Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients
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
Diagnostic utility of neurofilament markers for MND is limited in restricted disease phenotype and for differentiation from compressive myeloradiculopathies
2023 |
Second Faculty of Medicine, Central Library of Charles University
publication
Genetic findings in Czech patients with limb girdle muscular dystrophy
2023 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
2023 |
Second Faculty of Medicine
publication
Thermal quantitative sensory testing as a screening tool for cardiac autonomic neuropathy in patients with diabetes mellitus
2022 |
Second Faculty of Medicine, Central Library of Charles University
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