dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Salpietro, Vincenzo |
dc.contributor.author | Dixon, Christine L |
dc.contributor.author | Guo, Hui |
dc.contributor.author | Bello, Oscar D |
dc.contributor.author | Vandrovcova, Jana |
dc.contributor.author | Efthymiou, Stephanie |
dc.contributor.author | Raspall Chaure, Miquel |
dc.contributor.author | Macaya Ruíz, Alfons |
dc.date.accessioned | 2019-08-09T06:48:01Z |
dc.date.available | 2019-08-09T06:48:01Z |
dc.date.issued | 2019-07-12 |
dc.identifier.citation | Salpietro 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.issn | 2041-1723 |
dc.identifier.uri | https://hdl.handle.net/11351/4256 |
dc.description | Trastorns del neurodesenvolupament; AMPA; GluA2 |
dc.description.sponsorship | Supported 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.iso | eng |
dc.publisher | Nature Research |
dc.relation.ispartofseries | Nature Communications;10(1) |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Trastorns del desenvolupament - Aspectes genètics |
dc.subject | Proteïnes de membrana |
dc.subject | Mutació (Biologia) |
dc.subject.mesh | Neurodevelopmental Disorders |
dc.subject.mesh | /genetics |
dc.subject.mesh | Receptors, AMPA |
dc.subject.mesh | Mutation |
dc.title | AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1038/s41467-019-10910-w |
dc.subject.decs | trastornos del desarrollo neurológico |
dc.subject.decs | /genética |
dc.subject.decs | receptores AMPA |
dc.subject.decs | mutación |
dc.relation.publishversion | https://www.nature.com/articles/s41467-019-10910-w |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut 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.pmid | 31300657 |
dc.identifier.wos | WOS:000475295700001 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |