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FMR1
Person
Class
Person
Publication
Programmes
Mgr. Zuzana Mušová Ph.D.
External person at Second Faculty of Medicine
48 publications
Publications
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
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
Different Manifestations of the Fragile X Chromosome Syndrome and Their Causes
2007 |
Second Faculty of Medicine
publication
Syndrome of the fragile x chromosome with Tremor/Ataxia (FXTAS): a pilot study in a group of patients with ataxia of unknown aetiology
2007 |
Second Faculty of Medicine
publication
Concomitancy of mutation in FRDA gene and FMR1 premutation in 58 year-old woman
2005 |
Second Faculty of Medicine
publication
Genetic Study of Twenty Patients with Autism Spectrum Disorders
2002 |
Second 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, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Friedreich's Ataxia: Treatment on the Horizon!
2023 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
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
Friedreichova ataxie v ČR - předběžné výsledky komplexního zhodnocení 25 pacientů
2022 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
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