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NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism

 
dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorJesús Maestre, Silvia
dc.contributor.authorHinarejos Martínez, Isabel
dc.contributor.authorCarrillo, Fátima
dc.contributor.authorMartínez-Rubio, Dolores
dc.contributor.authorSánchez-Monteagudo, Ana
dc.contributor.authorPerez Dueñas, Belen
dc.contributor.authorMacias-Garcia, Daniel
dc.date.accessioned2022-06-16T08:20:20Z
dc.date.available2022-06-16T08:20:20Z
dc.date.issued2021-02
dc.identifier.citationJesús S, Hinarejos I, Carrillo F, Martínez-Rubio D, Macías-García D, Sánchez-Monteagudo A, et al. NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism. Neurol Genet. 2021 Feb;7(1):e543.
dc.identifier.issn2376-7839
dc.identifier.urihttps://hdl.handle.net/11351/7704
dc.descriptionMalaltia de Parkinson/Parkinsonisme; Vinculació genètica; Distonia
dc.description.sponsorshipThis work was supported by the Health Institute Carlos III—General Subdirectorate for Research Evaluation and Promotion (PI16/01575, PI18/01898, PI18/00147, PI19/01576), the Spanish Ministry of Economy and Competitiveness (SAF2007-60700), the Ministry of Economy, Innovation, Science and Business of the Government of Andalucía (CVI-02526, CTS-7685), the Ministry of Health and Social Welfare of the Government of Andalucía (PI-0459-2018, PE-0210-2018, PE-0186-2019) and by the Valencian Government (PROMETEO/2018/135), within the framework of the National Research and Development Plan co-funded with European Regional Development Funds. Part of the equipment employed in this study was funded by the Valencian Government and co-financed with European Regional Development Funds (OP ERDF of Valencian Community 2014-2020). I. Hinarejos has a PFIS-PhD fellowship (FI19/00072), S. Jesús has a contract “Acción B Clínicos-Investigadores” (Action B Clinicians-Researchers) contract (B-0007-2019) funded by the Ministry of Health and Family of the Government of Andalucía, and D. Macías-García has a Río Hortega contract (CM18/00142) funded by the Health Institute Carlos III.
dc.language.isoeng
dc.publisherLippincott Williams & Wilkins
dc.relation.ispartofseriesNeurology Genetics;7(1)
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.sourceScientia
dc.subjectMutació (Biologia)
dc.subjectTrastorns del llenguatge - Aspectes genètics
dc.subjectDiscapacitats - Comunicació
dc.subject.meshIntellectual Disability
dc.subject.meshLanguage Disorders
dc.subject.meshMutation
dc.titleNR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1212/NXG.0000000000000543
dc.subject.decsdiscapacidad intelectual
dc.subject.decstrastornos del lenguaje
dc.subject.decsmutación
dc.relation.publishversionhttps://doi.org/10.1212/NXG.0000000000000543
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[Jesús S, Carrillo F, Macías-García D] Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Spain. Centro de Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Spain. [Hinarejos I, Martínez-Rubio D, Sánchez-Monteagudo A] Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain. Joint Units INCLIVA and IIS La Fe Rare Diseases, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain. [Pérez-Dueñas B] Servei de Neurologia Pediàtrica, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain
dc.identifier.pmid33585677
dc.identifier.wos000656645800007
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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