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neuromuscular disorders
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doc. MUDr. Jana Haberlová Ph.D.
Academic staff at Second Faculty of Medicine
83 publications
Publications
publication
New therapies in neuromuscular disorders in childhood
2018 |
Second Faculty of Medicine
publication
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic
2017 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
publication
REaDY - Czech Registry of Muscular Dystrophies
2014 |
Second Faculty of Medicine
publication
Health-Related Quality of Life in Children and Adolescents With Spinal Muscular Atrophy in the Czech Republic
2014 |
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
publication
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Genetic findings in Czech patients with limb girdle muscular dystrophy
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey
2023 |
Second Faculty of Medicine
publication
A progressive KY myopathy could be caused by a missense pathogenic variant
2023 |
Second Faculty of Medicine
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