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Mutation
Person
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MUDr. Alena Zumrová Ph.D.
Academic staff at Second Faculty of Medicine
103 publications
Publications
publication
A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia
2014 |
Second Faculty of Medicine
publication
First cases in the Czech Republic of the Hallervorden-Spatz Disease resulting from mutation in the Pantothenate Kinase 2 Gene
+1
2005 |
Second Faculty of Medicine
publication
Diagnostic possibilities of Prader-Willi and of Angelman syndromes
2005 |
Second Faculty of Medicine
publication
Poruchy rovnováhy v dětském věku
2023 |
First Faculty of Medicine, Faculty of Medicine in Hradec Králové, Second Faculty of Medicine, Third Faculty of Medicine
publication
Examining the Correlation Between Neurofilament Levels and Clinical Features in a Friedreich Ataxia Cohort from the Czech Republic
2023 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Friedreich's Ataxia: Treatment on the Horizon!
2023 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Friedreich's Ataxia in the Czech Republic: New Drug and Treatment Perspectives
+1
2023 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Friedreichova ataxie v ČR - předběžné výsledky komplexního zhodnocení 25 pacientů
2022 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Zavedení inovativních terapií Friedreichovy ataxie
2022 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Correlation of genotype, phenotype and mitochondrial metabolism of patients with Friedreich's ataxia with the aim of implementing innovative therapies
2022 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
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