Editorial Team

Rett syndrome: hopes of gene therapy

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Reference: SP4443, GN1755 Abstract: For many years, Rett syndrome was widely regarded as an incurable disorder, as it was generally thought to cause irreversible changes in the brain. Then, in 2007, came the astonishing discovery that it was possible to reverse the symptoms of Rett syndrome in a laboratory model of the disorder, using a … Read more

Fundacion La Marato de TV3ﾠ

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Reference: 115 Abstract: n.a PROJECT DETAILS  beginning: 2005. end: 2006. Country of research: Spain Counry of funding source: Spain Funding organization: Fundacion La Marato de TV3ﾠ Financing: PRIVATE FUNDERS – 0 € hyperlink

Search and identification of new genetic or epigenetic causes of neurodevelopmental disorders involved in chromatin remodeling

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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

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

Markers synaptic dysfunction in Rett syndrome

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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

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