2012.

Characterization of neuronal activity-dependent gene transcription regulation in human iPSC-derived neurons

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Reference: MJD350 Abstract: Cellular and molecular studies of the human brain are mostly performed on postmortem tissue or animal models. Recently however, induced pluripotent cell (iPSCs) technology has become a valuable tool that enables studies on live human iPSC-derived neurons, thus providing an alternative approach with clear advantages over animal models or postmortem tissue for … Read more

Cellular Mechanisms and Therapies for Rett Syndrome

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Reference: 248284 Abstract: Rett Syndrome (RTT) is an X-linked neuro-developmental disorder and the leading known genetic cause of autism in girls. RTT is characterized by normal early development followed by cognitive, motor and language regression. Mutations in the X-linked MECP2 (methyl-CpG binding protein 2) gene account for at least 80% of RTT cases. In mouse … Read more

CHERISH (Improving diagnoses of mental retardation in children in central eastern Europe and central Asia through genetic characterisation and bioinformatics / statistics)

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Reference: 223692 Abstract: Mental retardation (MR) is a highly heterogeneous disorder and is of genetic origin in about 50% of the cases. Despite recent progress in research the causes and the pathophysiology of MR remains obscure. It is essential to investigate this in order to develop future diagnostic and therapeutic strategies. The overall goal of … Read more

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