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Identification of disease risk variants in neurotransmission and synaptic genes in Autism Spectrum Disorder

2019-05Conference object Restricted access
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dc.contributor.authorVilela, Joana
dc.contributor.authorMartiniano, Hugo
dc.contributor.authorLuzia, Sonija
dc.contributor.authorMarques, Ana Rita
dc.contributor.authorSantos, João
dc.contributor.authorAsif, Muhammad
dc.contributor.authorRasga, Célia
dc.contributor.authorOliveira, Guiomar
dc.contributor.authorVicente, Astrid M.
dc.date.accessioned2019-07-10T11:04:45Z
dc.date.available2019-07-10T11:04:45Z
dc.date.issued2019-05
dc.description.abstractBackground: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder which affects the brain structure and the proper establishment of the neuronal connectivity. The criteria of diagnosis are the presence of social communication deficits and restricted, repetitive patterns of behavior. ASD has a strong genetic component but, despite the reports of putative risk genes, the genetics underlying the disease is still incompletely understood. One hypothesis supported by strong genomic and functional evidence is that neurotransmission and synaptic biological processes are altered in ASD. Objective: The main objective of this work is to identify Single Nucleotide Variants (SNVs) in neurotransmission and synaptic genes (NS genes) that may play a role in ASD etiology.pt_PT
dc.description.sponsorshipJoana M. Vilela is a fellow of the BioSys PhD Programme and a recipient of a PhD grant, with reference PD/BD/131390/2017, funded by FCT –Fundação para a Ciência e a Tecnologia.pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/6435
dc.language.isoengpt_PT
dc.subjectAutism Spectrum Disorderpt_PT
dc.subjectNeurodevelopmental Disorderpt_PT
dc.subjectSingle Nucleotide Variants (SNVs)pt_PT
dc.subjectSynaptic Genes (NS genes)pt_PT
dc.subjectPerturbações do Desenvolvimento Infantil e Saúde Mentalpt_PT
dc.titleIdentification of disease risk variants in neurotransmission and synaptic genes in Autism Spectrum Disorderpt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceLisboa, Portugalpt_PT
oaire.citation.titleXVI Meeting of the Portuguese Society for Neurosciences, 30 maio-1 junho 2019pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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