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PERIPHERAL NEUROPATHY
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doc. MUDr. Jana Haberlová Ph.D.
Academic staff at Second Faculty of Medicine
83 publications
Publications
publication
Diagnostic Pitfalls of an Atypical Form of Congenital Muscular Dystrophy - Partial Merosin Deficiency - Case Reports
2017 |
Second Faculty of Medicine
publication
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis
2016 |
Second Faculty of Medicine
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
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies
2015 |
Second Faculty of Medicine
publication
Phenotypic Variability in a Large Czech Family with a Dynamin 2-Associated Charcot-Marie-Tooth Neuropathy
2011 |
Second Faculty of Medicine
publication
High frequency of SH3TC2 mutations in Czech HMSN I patients
2011 |
Second Faculty of Medicine
publication
Hereditary peripheral neuropathy
2006 |
Second Faculty of Medicine
publication
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve
2004 |
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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