dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Marcé Grau, Anna |
dc.contributor.author | Elorza‐Vidal, Xabier |
dc.contributor.author | Pérez‐Rius, Carla |
dc.contributor.author | Ruiz‐Nel·lo, Anna |
dc.contributor.author | Sala Coromina, Julia |
dc.contributor.author | Gabau, Elisabeth |
dc.contributor.author | Macaya Ruíz, Alfons |
dc.date.accessioned | 2022-01-28T07:44:09Z |
dc.date.available | 2022-01-28T07:44:09Z |
dc.date.issued | 2021-10 |
dc.identifier.citation | Marcé-Grau A, Elorza-Vidal X, Pérez-Rius C, Ruiz-Nel·lo A, Sala-Coromina J, Gabau E, et al. Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy. Hum Mutat. 2021 Oct;42(10):1215–20. |
dc.identifier.issn | 1098-1004 |
dc.identifier.uri | https://hdl.handle.net/11351/6925 |
dc.description | Encefalopatia epilèptica; Receptor muscarínic; Seqüenciació de l'exoma complet |
dc.description.sponsorship | Anna Marcé-Grau received a predoctoral scholarship from Vall d'Hebron Research Institute, Barcelona, Spain. Work funded by grant PI15/01791 to Alfons Macaya from Instituto Carlos III, Spain. This study was also supported by RTI2018-093493-B-I00 to Raúl Estévez. Raúl Estévez is a recipient of an ICREA Academia Prize. |
dc.language.iso | eng |
dc.publisher | Wiley |
dc.relation.ispartofseries | Human Mutation;42(10) |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Neurologia pediàtrica - Malalties |
dc.subject | Genètica del desenvolupament |
dc.subject | Seqüència de nucleòtids |
dc.subject.mesh | Neurodevelopmental Disorders |
dc.subject.mesh | /genetics |
dc.subject.mesh | DNA Mutational Analysis |
dc.title | Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1002/humu.24252 |
dc.subject.decs | trastornos del desarrollo neurológico |
dc.subject.decs | /genética |
dc.subject.decs | análisis de mutaciones del ADN |
dc.relation.publishversion | https://doi.org/10.1002/humu.24252 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Marcé-Grau A, Sala-Coromina J] Grup de Recerca en Neurologia Pediàtrica, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Elorza-Vidal X] Physiology Unit, Department of Physiological Sciences, Genes Disease and Therapy Program, IDIBELL‐Institute of Neurosciences, Universitat de Barcelona, L'Hospitalet de Llobregat, Spain. Rare Disease Network Research Center (CIBERER), ISCIII, Spain. [Pérez-Rius C] Physiology Unit, Department of Physiological Sciences, Genes Disease and Therapy Program, IDIBELL‐Institute of Neurosciences, Universitat de Barcelona, L'Hospitalet de Llobregat, Spain. [Ruiz‐Nel·lo A] Genetics Laboratory, Institut d'Investigació i Innovació Parc Taulí I3PT, UDIAT‐Centre Diagnòstic, Parc Taulí Hospital Universitari, Universitat Autònoma de Barcelona, Sabadell, Spain. [Gabau E] Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain. [Macaya A] Grup de Recerca en Neurologia Pediàtrica, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Institut de Neurociència, Universitat Autònoma de Barcelona, Bellaterra, Spain |
dc.identifier.pmid | 34212451 |
dc.identifier.wos | 000671594800001 |
dc.relation.projectid | info:eu-repo/grantAgreement/ES/PE2013-2016/PI15%2F01791 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |