Reference: Angels Garcia Cazorla/ Merce Pineda Abstract: The fact describe how certain proteins are expressed neuronal synapses (“up / down regulation”) in Rett syndrome and what relationship established between them, is something totally new and previously undescribed in the literature. The results of this study may contribute to the understanding of the pathophysiology of Rett … Read more
Reference: GGP05119 Abstract: Rett syndrome (RTT) is a genetic disease that occurs almost exclusively in females, with an estimated prevalence of 1 in 10.000-15.000 female births. After normal development up to the age of 6-36 months, follows a period of regression of motor and mental abilities. Affected patients develop loss of speech and purposeful hand … Read more
Reference: 2. Dra. Sonia Mayo de Andros Abstract: This research project aims to contribute to understanding of the genetic etiology and diagnosis of neurodevelopmental disorders by in silico analysis for the selection of new candidate genes or by looking for genetic abnormalities or markers of epigenetic alterations that can affect both genes and involved in … Read more
Reference: ANRn.a.8-MNPSn.a.007 Abstract: Psychotic disorders (schizophrenia, bipolar disorder, pervasive developmental disorders) are disabling disorders of variable clinical expression ?, ?d resulting interaction between genetic and environmental factors during critical periods of brain development. Some candidate genes have been identified . Among them, neuregulin, RGS4, DISC1, reelin, BDNF and glutamatergic receptors are involved in the formation … Read more
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