dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Sancho, Paula |
dc.contributor.author | Andrés-Bordería, Amparo |
dc.contributor.author | Gorría-Redondo, Nerea |
dc.contributor.author | Llano, Katia |
dc.contributor.author | Martínez-Rubio, Dolores |
dc.contributor.author | Yoldi-Petri, María Eugenia |
dc.contributor.author | Perez Dueñas, Belen |
dc.date.accessioned | 2021-11-19T13:16:30Z |
dc.date.available | 2021-11-19T13:16:30Z |
dc.date.issued | 2021-03-02 |
dc.identifier.citation | Sancho P, Andrés-Bordería A, Gorría-Redondo N, Llano K, Martínez-Rubio D, Yoldi-Petri ME, et al. Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration. Int J Mol Sci. 2021 Mar 2;22(5):2505. |
dc.identifier.issn | 1422-0067 |
dc.identifier.uri | https://hdl.handle.net/11351/6571 |
dc.description | Gen SPTBN2; Neurodegeneración; Ataxia congénita no progresiva |
dc.language.iso | eng |
dc.publisher | MDPI |
dc.relation.ispartofseries | International Journal of Molecular Sciences;22(5) |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Sistema nerviós - Degeneració - Aspectes genètics |
dc.subject.mesh | Neurodegenerative Diseases |
dc.subject.mesh | /genetics |
dc.subject.mesh | Cerebellar Ataxia |
dc.subject.mesh | /genetics |
dc.title | Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.3390/ijms22052505 |
dc.subject.decs | enfermedades neurodegenerativas |
dc.subject.decs | /genética |
dc.subject.decs | ataxia cerebelosa |
dc.subject.decs | /genética |
dc.relation.publishversion | https://doi.org/10.3390/ijms22052505 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Sancho P, Martínez-Rubio D] Unit of Rare Neurodegenerative Diseases, Centro de Investigación Príncipe Felipe (CIPF), 46012 Valencia, Spain. [Andrés-Bordería A] Unit of Rare Neurodegenerative Diseases, Centro de Investigación Príncipe Felipe (CIPF), 46012 Valencia, Spain. Department of Physiology, Faculty of Medicine and Dentistry, University of Valencia, 46010 Valencia, Spain. [Gorría-Redondo N, Yoldi-Petri ME] Pediatric Neurology Unit, Department of Pediatrics, Complejo Hospitalario de Navarra, 31008 Pamplona, Spain. [Pérez-Dueñas B] Grup de Recerca en Neurologia Pediàtrica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain |
dc.identifier.pmid | 33801522 |
dc.identifier.wos | 000628287200001 |
dc.relation.projectid | info:eu-repo/grantAgreement/ES/PE2013-2016/PI18%2F00147 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |