Reference: Thomas Bertrand1 Abstract: Health is today the number 1 use of Internet. E patients are health consumers who use the internet to gather, share, produce information about a medical condition of particular interest to them. Health social networks are becoming an important entity of influence in the medicine of the future, as they are … Read more
Reference: Danijela Vlajic Abstract: The European Project for Rare Diseases National Plans Development (EUROPLAN) has addressed one unanswered question to date: ﾓwhat is the scope of patient-driven research?ﾔ Identification of needs and priorities for translational and social research, modes of fostering them and promotion of interdisciplinary cooperative approaches has been largely recommended. Beside the success … Read more
Reference: ORPHA258004 Abstract: Rett syndrome (RS) is a neurological disorder primarily affecting girls, with an incidence of about 1/10,000 female births. It is a genetic disease, the second cause of severe mental retardation in women and a leading cause of postnatal neurodevelopmental regression. Rett syndrome is a model for autism-spectrum disorders and it is classified … Read more
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
Reference: 261123 Abstract: We are committed to gaining insights into the human genome and its role in health and medicine by sharing data, experience and expertise in high-throughput sequencing. The purpose of this website is to keep you up to date with the project, and to help you find accessible information about genomics and personalised … Read more
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