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Phenotype
Person
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Person
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Mgr. Zuzana Mušová Ph.D.
External person at Second Faculty of Medicine
48 publications
Publications
publication
Friedreich's Ataxia in the Czech Republic: New Drug and Treatment Perspectives
2023 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
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, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Clinical Variability in P102L Gerstmann-Sträussler-Scheinker Syndrome
2019 |
First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
publication
Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism
2016 |
Second Faculty of Medicine
publication
A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia
2014 |
Second Faculty of Medicine
publication
FMR1 Gene Expansion, Large Deletion of Xp, and Skewed X-Inactivation in a Girl With Mental Retardation and Autism
2010 |
Second Faculty of Medicine
publication
Highly Unstable Sequence Interruptions of the CTG Repeat in the Myotonic Dystrophy Gene
2009 |
Second Faculty of Medicine
publication
Different Manifestations of the Fragile X Chromosome Syndrome and Their Causes
2007 |
Second Faculty of Medicine
publication
Autosomal recessive and X-linked ataxia
2007 |
Second Faculty of Medicine
publication
Fluorescent multiplex PCR: Fast method for autosomal dominant spinocerebellar ataxias screening
2005 |
Second Faculty of Medicine
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