Psychiatry (Scholarly Publications)
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Rett syndrome and Fragile X: different etiology with common molecular dysfunctions
(2021)Rett syndrome (RTT) and Fragile X syndrome (FXS) are two monogenetic neurodevelopmental disorders with complex clinical presentations. RTT is caused by mutations in the Methyl-CpG binding protein 2 gene (MECP2) altering ... -
Molecular signatures of response to mecasermin in children with Rett Syndrome
(2022)Rett syndrome (RTT) is a devastating neurodevelopmental disorder without effective treatments. Attempts at developing targetted therapies have been relatively unsuccessful, at least in part, because the genotypical and ... -
Sex representation in neurodegenerative and psychiatric disorders' preclinical and clinical studies
(2023)Many studies show the importance of biological sex for the onset, progression, and response to treatment in brain disorders. In line with these reports, health agencies have requested that all trials, both at the clinical ... -
Development of trofinetide for the treatment of Rett syndrome: from bench to bedside
(2024)Rett syndrome (RTT) is rare neurodevelopmental disorder caused by mutations in the MECP2 gene that encodes methyl-CpG-binding protein 2 (MeCP2), a DNA-binding protein with roles in epigenetic regulation of gene expression. ... -
Rett syndrome in Ireland: a demographic study.
(2024)Background: Rett syndrome (RTT) is a rare neurodevelopmental condition associated with mutations in the gene coding for the methyl-CpG-binding protein 2 (MECP2). It is primarily observed in girls and affects individuals ...