2012.

Genetic diagnosis Rett syndrome: a first step to drug therapy. Study on the involved and genes genotype-phenotype correlation

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Reference: Armstrong Abstract: Determine the pathogenicity of the mutations and polymorphisms detected in genes MECP2, CDKL5, FOXG1, NTNG1 i BDNF responsible for RTT in all patients clinically diagnosed as RTT and determine the clinical expression in patients (genotype-phenotype correlation). Objectives: – To study the genotype of patients with RTT you have not found a point … Read more

Creating an experimental modelreproducing a pathogenic mutation of MeCP2

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Reference: Project3 Abstract: Objective: the majority of animal models of the syndrome Rett available today represent only part of what that actually happens in patients, because most patients are not deprived of the entire gene, but only a small portion of it, or even have change only one amino acid. This project has set itself … Read more

New animal models for understandingof the role of MeCP2 and the development of approachespharmacological

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Reference: PROJECT1 Abstract: Objective: confirmed the reversibility of the syndrome Rett, a possible therapeutic approach could result by pharmacological modulation of molecular pathways regulated by MeCP2. In this project we will remove MeCP2 from cerebral cortex and hippocampus, areas in which they reside most of the cognitive and affective, to determine the “MeCP2 target genes” … Read more

Identification of neuronal substrates of Rett syndrome and validation of therapies in preclinical models: a genomic, morphofunctional, and behavioural analysis in mouse models and patients

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Reference: GGP09196 Abstract: Rett syndrome is a leading cause of mental retardation, second only to Down syndrome, which affects almost exclusively girls. This disease becomes manifest after a period of apparently normal development and causes growth retardation, severe psychomotor impairment and autistic behaviour. The majority of cases of Rett syndrome are caused by mutations in … Read more

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