Browsing by Subject "Rett syndrome"
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Clinical and genetic Rett syndrome variants are defined by stable electrophysiological profiles
(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
(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 ... -
The molecular determinant of IGF-1(Mecasermin)action in Rett Syndrome Patients
(Trinity College Dublin. School of Medicine. Discipline of Psychiatry, 2018)Abstract This is a preliminary investigation of effects of insulin-like growth factor-1 (IGF-1) treatment on differential gene expression (DGE) of whole blood samples from Rett syndrome (RTT) patients. Samples were ... -
Transcriptome level analysis in Rett syndrome using human samples from different tissues
(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
(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 ...