2011.

Compiling a chromatin modification module for Intellectual Disability

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Reference: 90700365 Abstract: Intellectual disability (ID) affects 2% of our population, but still most ID patients remain undiagnosed mainly due to the huge genetic heterogeneity. It has recently become clear that the complexity of ID genes can be understood in terms of ﾓmodulesﾔ of several genes acting together in a single biological pathway or complex. … Read more

Challenges of the use of next generation sequencing in clinical context: study in Rett syndrome and related neurodevelopmental phenotypes

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Reference: HMSP-ICS/0017/2011 Abstract: n.a PROJECT DETAILS  beginning: 2011. end: n.a Country of research: Portugal Counry of funding source: United States Funding organization: Framework of the Cooperation Agreement between Portugal and Harvard Medical School – 2011 Financing: NATIONAL FUNDINGS – 0 € hyperlink

When Neurons Touch-Elucidating the Role of Neuroligins in the Formation, Development, Maturation, and Maintenance of Synapses

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Reference: 274972 Abstract: The proper coupling between presynaptic and postsynaptic neurons is essential for synaptic signalling. Synapse formation, maturation, and maintenance are controlled by cell adhesion systems that recruit and organise the synaptic protein machinery. One such system comprises presynaptic neurexins and postsynaptic neuroligins. Of the five known neuroligins, neuroligin 1 is specific for excitatory … Read more

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