Publication: A Spanish family with a compound heterozygous mutation in SPG7: From uncertainty to clinical reality.
| dc.contributor.author | Fernández-Moreno, M C | |
| dc.contributor.author | Castro-Fernández, C | |
| dc.contributor.author | Viloria-Peñas, M M | |
| dc.contributor.author | Castilla-Guerra, L | |
| dc.date.accessioned | 2023-02-08T14:43:54Z | |
| dc.date.available | 2023-02-08T14:43:54Z | |
| dc.date.issued | 2020-03-20 | |
| dc.identifier.doi | 10.1016/j.nrl.2020.01.002 | |
| dc.identifier.essn | 2173-5808 | |
| dc.identifier.pmid | 32204931 | |
| dc.identifier.unpaywallURL | https://doi.org/10.1016/j.nrl.2020.01.002 | |
| dc.identifier.uri | http://hdl.handle.net/10668/15275 | |
| dc.issue.number | 9 | |
| dc.journal.title | Neurologia (Barcelona, Spain) | |
| dc.journal.titleabbreviation | Neurologia (Engl Ed) | |
| dc.language.iso | en | |
| dc.language.iso | es | |
| dc.organization | Área de Gestión Sanitaria Sur de Sevilla | |
| dc.organization | Hospital Universitario Virgen del Rocío | |
| dc.organization | Hospital Universitario Virgen Macarena | |
| dc.organization | AGS - Sur de Sevilla | |
| dc.page.number | 694-696 | |
| dc.pubmedtype | Letter | |
| dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | |
| dc.rights.accessRights | open access | |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
| dc.subject.mesh | ATPases Associated with Diverse Cellular Activities | |
| dc.subject.mesh | Humans | |
| dc.subject.mesh | Metalloendopeptidases | |
| dc.subject.mesh | Mutation | |
| dc.subject.mesh | Spastic Paraplegia, Hereditary | |
| dc.subject.mesh | Uncertainty | |
| dc.title | A Spanish family with a compound heterozygous mutation in SPG7: From uncertainty to clinical reality. | |
| dc.title.alternative | Familia española portadora de una mutación en heterocigosis compuesta en el gen SPG7: de la incertidumbre a la realidad clínica. | |
| dc.type | research article | |
| dc.type.hasVersion | VoR | |
| dc.volume.number | 35 | |
| dspace.entity.type | Publication |