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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorSalpietro, Vincenzo
dc.contributor.authorDixon, Christine L
dc.contributor.authorGuo, Hui
dc.contributor.authorBello, Oscar D
dc.contributor.authorVandrovcova, Jana
dc.contributor.authorEfthymiou, Stephanie
dc.contributor.authorRaspall Chaure, Miquel
dc.contributor.authorMacaya Ruíz, Alfons
dc.date.accessioned2019-08-09T06:48:01Z
dc.date.available2019-08-09T06:48:01Z
dc.date.issued2019-07-12
dc.identifier.citationSalpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, et al. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. Nat Commun. 2019;10(1):3094.
dc.identifier.issn2041-1723
dc.identifier.urihttp://hdl.handle.net/11351/4256
dc.descriptionTrastorns del neurodesenvolupament; AMPA; GluA2
dc.description.sponsorshipSupported by the Wellcome Trust (WT093205MA and WT104033AIA), Medical Research Council (H.H. and D.M.K.), European Community’s Seventh Framework Programme (FP7/2007‐2013, under grant agreement No. 2012‐305121 to H.H.), Muscular Dystrophy Association (MDA), Muscular Dystrophy UK, The MSA Trust, Ataxia UK, The Sparkes Children’s Medical Research Charity, The Great Ormond Street Hospital Charity, Rosetrees Trust, Brain Research UK, The UK HSP Society, The European Union’s Horizon 2020 research and innovation programme Solve-RD project (No 779257), The Pakistan Council (Scholarship to HT), The National Natural Science Foundation of China (31671114, 81871079, 81330027, and 81525007 to H.G. and K.X.), the US National Institutes of Health (NIH grant R01MH101221 to E.E.E), the National Institute for Health Research (NIHR) University College London Hospitals (UCLH) and the Biomedical Research Centre (BRC)
dc.language.isoeng
dc.publisherNature Research
dc.relation.ispartofseriesNature Communications;10(1)
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScientia
dc.subjectTrastorns del desenvolupament - Aspectes genètics
dc.subjectProteïnes de membrana
dc.subjectMutació (Biologia)
dc.subject.meshNeurodevelopmental Disorders
dc.subject.mesh/genetics
dc.subject.meshReceptors, AMPA
dc.subject.meshMutation
dc.titleAMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1038/s41467-019-10910-w
dc.subject.decstrastornos del desarrollo neurológico
dc.subject.decs/genética
dc.subject.decsreceptores AMPA
dc.subject.decsmutación
dc.relation.publishversionhttps://www.nature.com/articles/s41467-019-10910-w
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[Salpietro V] Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK. Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "Giannina Gaslini", Genoa, Italy. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy. [Dixon CL, Bello OD] Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK. [Guo H] Department of Genome Sciences, University of Washington School of Medicine, Seattle, USA. Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China. [Vandrovcova J] Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK. [Efthymiou S] Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK. Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK. [Raspall-Chaure M, Macaya A] Servei de Neurologia Pediatrica, Hospital Universitari Vall d'Hebron, Barcelona, Spain. Universitat Autònoma de Barcelona, Barcelona, Spain.
dc.identifier.pmid31300657
dc.identifier.wosWOS:000475295700001
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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