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 | Trastornos del neurodesarrollo; AMPA; GluA2 |
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 |