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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
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
The brain MR imaging in patients with myotonic dystrophy DM 1
2007 |
Second Faculty of Medicine
publication
Spinal deformities in hereditary motor and sensory neuropathy - A retrospective qualitative, quantitative, genotypical, and familial analysis of 175 patients
2007 |
Second Faculty of Medicine
publication
Investigation of the Effectiveness of THIOCTACID in the Ambulatory Treatment of Diabetic Neuropathy
2000 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
Charcot-Marie-Tooth gonosomal dominant type (CMTX1) - First findings of mutations in the gene for connexin 32 in the Czech Republic
2000 |
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
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