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Rob Willemsen
Erasmus University Medical Center
Biochemistry, Genetics & Molecular Biology Medicine & Pharmacology

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Fragile X syndrome, the search for a targeted treatment Shimriet Zeidler; Rob Willemsen
Journal of Biomedicine and Translational Research Vol 5, No 1 (2019): July 2019
Publisher : Faculty of Medicine, Diponegoro University

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (337.954 KB) | DOI: 10.14710/jbtr.v5i1.3925

Abstract

Fragile X syndrome (FXS), the most common monogenetic cause of intellectual disability and autism spectrum disorders, is characterized by behavioral and physical problems. There is currently no adequate treatment available. While animal model studies seemed extremely promising, no success has been achieved in the larger clinical trials with human FXS patients. This short review describes the steps that have been taken in the development of a targeted treatment for FXS. Possible reasons for the lack of translation between animal models and human FXS patients are being explored and solutions are being proposed. The FXS story illustrates pitfalls and possibilities in translational research, that might especially be applicable for other neurodevelopmental disorders as well. 
Co-Authors Shimriet Zeidler