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Charcot Marie Tooth neuropathy
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MUDr. Radim Mazanec Ph.D.
Academic staff at Second Faculty of Medicine
145 publications
Publications
publication
Lower urinary tract functions in a series of Charcot-Marie-Tooth neuropathy patients
2014 |
Second Faculty of Medicine
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
Pulmonary function in patients with hereditary motor and sensory neuropathy: A comparison of patients with and without spinal deformity
2012 |
Second Faculty of Medicine
publication
Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy
2011 |
Second Faculty of Medicine, First 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
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
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve
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
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