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Genetic approach to Rett syndrome and its variants. Clinical and molecular characterization of neuropsychiatric phenotypes that overlap

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Reference: ORPHA319013 Abstract: Title: Genetic approach to Rett syndrome and its variants. Clinical and molecular characterization of overlapping neuropsychiatric phenotypes. Description: Since the discovery of MECP2 gene as mainly responsible for Rett Syndrome (SR) numerous studies have shown that there are mutations in this gene that does not produce the “classic”, but also in women … Read more

NEONATAL HI INJURY – Modulation of Triggering receptor expressed in myeloid cells 2 by gene transfer as novel neuroprotective estrategy for neonatal hypoxic ischemic brain injury using behavioural outcome as readout

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Reference: 253110 Abstract: Insults during the perinatal stage of brain development lead to major causes of neurological disability throughout life, ranging from motor deficits, cognitive limitations, learning difficulties and even severe disabilities, such as cerebral palsy. In term newborn infants, hypoxic-ischemic (HI) brain injury is the most common cause of encephalopathy and seizures. Despite major … Read more

Epigenetic Plasticity of the Genome

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Reference: 503433 Abstract: In this ‘post-genomic’ era, advances in epigenetic research represent a new frontier that is predicted to yield novel insights for gene regulation, cell differentiation, stem cell plasticity, organismal development, human diseases, cancer, infertility and aging. A central emerging concept proposes that there is an ‘epigenetic code’, which considerably extends the information potential … Read more

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