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nervous system
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MUDr. Radim Mazanec Ph.D.
Academic staff at Second Faculty of Medicine
145 publications
Publications
publication
Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman
2013 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Science
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
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 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
publication
Herpes viruses infection of the Nervous System - are Herpes Viruses really iportant or should be neglected?
Publication without faculty affiliation
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
publication
Risk factors for depression and anxiety in painful and painless diabetic polyneuropathy: a multicentre observational cross-sectional study
2022 |
Second Faculty of Medicine
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