2010.

Pharmacological treatment of respiratory disorders in a mouse model of Rett syndrome

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Reference: Paton, Julian Abstract: Breathing abnormalities consisting of rapid deep respiration followed by cessation of breathing and an irregular interval between breaths are a common and distressing feature of Rett syndrome (RTT). Using a mouse model we have shown that injections of a compound that boosts the brain concentration of the inhibitory neurotransmitter ? amino-butyric … Read more

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

Molecular pathology and functional interactions of the genes CDKL5 and MECP2: molecular and clinical consequences of the alteration of a neuro-biological networks

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Reference: Universit? degli Studi dell’Insubria Abstract: n.a PROJECT DETAILS  beginning: 2010. end: 2011. Country of research: Italy Counry of funding source: Italy Funding organization: Fondazione Caripl Financing: PRIVATE FUNDERS – 260 000 € hyperlink

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