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doc. MUDr. Jana Haberlová Ph.D.
Academic staff at Second Faculty of Medicine
83 publications
Publications
publication
HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL
2016 |
Second Faculty of Medicine
publication
Hereditary neuropathy
+1
2015 |
Second Faculty of Medicine
publication
Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A 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 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy
2013 |
Second Faculty of Medicine
publication
High frequency of SH3TC2 mutations in Czech HMSN I patients
2011 |
Second Faculty of Medicine
publication
Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene
2010 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Mutations in the LMNA gene do not cause axonal CMT in Czech patients
2009 |
Second Faculty of Medicine
publication
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial
2024 |
Second Faculty of Medicine
publication
Children's pneumology
2023 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport, Third Faculty of Medicine
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