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microsatellite marker
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MUDr. Radim Mazanec Ph.D.
Academic staff at Second Faculty of Medicine
145 publications
Publications
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
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
publication
Limb girdle muscular dystrophies
2022 |
Second Faculty of Medicine
publication
Use of corneal confocal microscopy in neurological disorders
2021 |
Second Faculty of Medicine, Central Library of Charles University
publication
CANVAS - a newly identified genetic cause of late-onset ataxia. Description of the first cases in the Czech Republic
2021 |
Second Faculty of Medicine, First Faculty of Medicine
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