Browsing by Author "Tropea, Daniela"
Now showing items 1-16 of 16
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Clinical and genetic Rett syndrome variants are defined by stable electrophysiological profiles
Tropea, Daniela; Reilly, Richard (BMC, 2018)Background: Rett Syndrome (RTT) is a complex neurodevelopmental disorder, frequently associated with epilepsy.Despite increasing recognition of the clinical heterogeneity of RTT and its variants (e.g Classical, Hanefeld ... -
Clinical and Genetic Rett Syndrome Variants are Defined by Stable Electrophysiological Profiles
Tropea, Daniela; Reilly, Richard; Dyer, Adam (2018)Background: Rett Syndrome (RTT) is a complex neuro developmental disorder, frequently associated with epilepsy. Despite increasing recognition of the clinical heterogeneity of RTT and its variants (e.g Classical, Hanefeld ... -
Development of trofinetide for the treatment of Rett syndrome: from bench to bedside
Tropea, Daniela (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. ... -
Disrupted in schizophrenia 1 (DISC1) mutants have impaired activity-dependent plasticity in vitro and in vivo
Corvin, Aiden; Mitchell, Kevin (2016) -
Functional investigation of neurodevelopmental effects of DISC1 and related psychosis risk genes
Bellini, Stefania (Trinity College (Dublin, Ireland). School of Medicine. Discipline of Psychiatry, 2015)Schizophrenia (SCZ) is a severe neurodevelopmental disorder, which affects about 1% of the population worldwide, and whose symptoms start during early adulthood. SCZ is determined by the interaction of genetic and environmental ... -
Functional network mapping reveals state-dependent response to IGF-1 treatment in Rett Syndrome
Tropea, Daniela (2020)Rett Syndrome (RTT) is a neurodevelopmental disorder associated with mutations in thegeneMeCP2, which is involved in the development and function of cortical networks. The clinical presentation of RTT is generally severe ... -
Methyl-CpG2-binding protein 2 mediates overlapping mechanisms across brain disorders
Tropea, Daniela (2020)MECP2 and its product, Methyl-CpG binding protein 2 (MeCP2), are mostly known for their association to Rett Syndrome (RTT), a rare neurodevelopmental disorder. Additional evidence suggests that MECP2 may underlie other ... -
Molecular signatures of response to mecasermin in children with Rett Syndrome
Tropea, Daniela (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 ... -
Rett syndrome and Fragile X: different etiology with common molecular dysfunctions
Tropea, Daniela (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 ... -
Rett syndrome in Ireland: a demographic study.
Tropea, Daniela (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 ... -
Sex representation in neurodegenerative and psychiatric disorders' preclinical and clinical studies
Tropea, Daniela (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 ... -
Transcriptome level analysis in Rett syndrome using human samples from different tissues
Tropea, Daniela (BMC, 2018)The mechanisms of neuro-genetic disorders have been mostly investigated in the brain, however, for some pathologies, transcriptomic analysis in multiple tissues represent an opportunity and a challenge to understand the ... -
Transcriptomic analysis of Mecp2 mutant mice reveals differentially expressed genes and altered mechanisms in both blood and brain
Tropea, Daniela; Hokamp, Karsten (2019)Rett syndrome is a rare neuropsychiatric disorder with a wide symptomatology including impaired communication and movement, cardio-respiratory abnormalities, and seizures. The clinical presentation is typically associated ...