dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Sánchez-Tejerina San José, Daniel |
dc.contributor.author | Restrepo Vera, Juan Luis |
dc.contributor.author | Rovira Moreno, Eulàlia |
dc.contributor.author | Codina Solà, Marta |
dc.contributor.author | Llauradó Gayete, Arnau |
dc.contributor.author | Sotoca Fernández, Javier |
dc.contributor.author | Salvadó Figueras, Maria |
dc.contributor.author | Raguer Sanz, Nuria |
dc.contributor.author | García Arumí, Elena |
dc.contributor.author | Juntas Morales, Raul |
dc.date.accessioned | 2022-11-10T07:26:04Z |
dc.date.available | 2022-11-10T07:26:04Z |
dc.date.issued | 2022-08-19 |
dc.identifier.citation | Sánchez-Tejerina D, Restrepo-Vera JL, Rovira-Moreno E, Codina-Sola M, Llauradó A, Sotoca J, et al. An Atypical Presentation of Upper Motor Neuron Predominant Juvenile Amyotrophic Lateral Sclerosis Associated with TARDBP Gene: A Case Report and Review of the Literature. Genes. 2022 Aug 19;13(8):1483. |
dc.identifier.issn | 2073-4425 |
dc.identifier.uri | https://hdl.handle.net/11351/8429 |
dc.description | Esclerosi lateral amiotròfica juvenil; Trastorn predominant |
dc.language.iso | eng |
dc.publisher | MDPI |
dc.relation.ispartofseries | Genes;13(8) |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Esclerosi lateral amiotròfica - Aspectes genètics |
dc.subject | Neurones motores |
dc.subject.mesh | Amyotrophic Lateral Sclerosis |
dc.subject.mesh | /genetics |
dc.subject.mesh | Motor Neurons |
dc.title | An Atypical Presentation of Upper Motor Neuron Predominant Juvenile Amyotrophic Lateral Sclerosis Associated with TARDBP Gene: A Case Report and Review of the Literature |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.3390/genes13081483 |
dc.subject.decs | esclerosis lateral amiotrófica |
dc.subject.decs | /genética |
dc.subject.decs | neuronas motoras |
dc.relation.publishversion | https://doi.org/10.3390/genes13081483 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Sánchez-Tejerina D, Restrepo-Vera JL, Llauradó A, Sotoca J, Salvado M, Juntas-Morales R] European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Vall d’Hebron Hospital Universitari, Barcelona, Spain. Servei de Neurologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Rovira-Moreno E, Codina-Sola M, García-Arumí E] Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Raguer N] Servei de Neurofisiologia Clínica, Vall d’Hebron Hospital Universitari, Barcelona, Spain |
dc.identifier.pmid | 36011394 |
dc.identifier.wos | 000846952300001 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |