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
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: 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: Merce Pinada Abstract: Proposed in this project, a multicenter trial (cooperation between different hospitals in Israel and the U.S., including the John Hopkins Hospital and three other medical centers), with proposals for dealing with disruptive behavior, including irritability, screaming, biting, self-mutilation, anxiety, inattention and hyperactivity. The main objective of this paper is to improve … Read more
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
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