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Charcot-Marie-Tooth
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doc. MUDr. Jana Haberlová Ph.D.
Academic staff at Second Faculty of Medicine
83 publications
Publications
publication
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2
2018 |
Second Faculty of Medicine
publication
Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A
2017 |
Second Faculty of Medicine
publication
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis
2016 |
Second Faculty of Medicine
publication
Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom
2015 |
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
Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy
2011 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Phenotypic Variability in a Large Czech Family with a Dynamin 2-Associated Charcot-Marie-Tooth Neuropathy
2011 |
Second Faculty of Medicine
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