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https://hdl.handle.net/2445/216242Full metadata record
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Muñoz, Esteban | - |
| dc.contributor.author | Jodar, Meritxell | - |
| dc.contributor.author | Guerrero, Jairo | - |
| dc.contributor.author | Compta, Yaroslau | - |
| dc.contributor.author | Perissinotti, Andrés | - |
| dc.contributor.author | Álvarez Mora, María Isabel | - |
| dc.contributor.author | Falgàs Martínez, Neus | - |
| dc.contributor.author | Rodríguez Revenga, Laia | - |
| dc.contributor.author | Sánchez del Valle Díaz, Raquel | - |
| dc.date.accessioned | 2024-11-05T15:00:00Z | - |
| dc.date.available | 2024-11-05T15:00:00Z | - |
| dc.date.issued | 2022-10 | - |
| dc.identifier.issn | 2330-1619 | - |
| dc.identifier.uri | https://hdl.handle.net/2445/216242 | - |
| dc.description.abstract | Hereditary spastic paraplegia (HSP) is a rare and genetically heterogeneous disease.1 Presenilin-1 (PSEN1) mutations are responsible for both early-onset familial Alzheimer’s disease (AD)2 and HSP.3 We present a case of spastic paraplegia (SP) and cognitive impairment due to a novel de novo pathogenic variant in PSEN1. | - |
| dc.format.extent | 3 p. | - |
| dc.format.mimetype | application/pdf | - |
| dc.language.iso | eng | - |
| dc.publisher | John Wiley & Sons | - |
| dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1002/mdc3.13588 | - |
| dc.relation.ispartof | Movement Disorders Clinical Practice, 2022, vol. 10, num.1, p. 148-150 | - |
| dc.relation.uri | https://doi.org/10.1002/mdc3.13588 | - |
| dc.rights | cc-by-nc-nd (c) Muñoz, Esteban et al., 2022 | - |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0 | * |
| dc.source | Articles publicats en revistes (Medicina) | - |
| dc.subject.classification | Malaltia d'Alzheimer | - |
| dc.subject.classification | Paraplegia | - |
| dc.subject.classification | Malalties hereditàries | - |
| dc.subject.classification | Mutació (Biologia) | - |
| dc.subject.classification | Genètica | - |
| dc.subject.other | Alzheimer's disease | - |
| dc.subject.other | Paraplegia | - |
| dc.subject.other | Genetic diseases | - |
| dc.subject.other | Mutation (Biology) | - |
| dc.subject.other | Genetics | - |
| dc.title | Spastic paraplegia and cognitive impairment due to a de novo pathogenic variant in Presenilin-1 | - |
| dc.type | info:eu-repo/semantics/article | - |
| dc.type | info:eu-repo/semantics/publishedVersion | - |
| dc.identifier.idgrec | 737355 | - |
| dc.date.updated | 2024-11-05T15:00:00Z | - |
| dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
| dc.identifier.pmid | 36699002 | - |
| Appears in Collections: | Articles publicats en revistes (Medicina) Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer) | |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| 823112.pdf | 2.93 MB | Adobe PDF | View/Open |
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