Logo do repositório
 
Publicação

Novel TBK1 LoF variant in a family with upper motor neuron predominant motor neuron disease

2019Artigo científico Acesso restrito
Ver registo simples
dc.contributor.authorCosta, Mariana Reis
dc.contributor.authorGromicho, Marta
dc.contributor.authorPronto Laborinho, Ana Catarina
dc.contributor.authorMiltenberger-Miltenyi, Gabriel
dc.contributor.authorCarvalho, Mamede
dc.date.accessioned2021-10-15T14:30:01Z
dc.date.available2021-10-15T14:30:01Z
dc.date.issued2019
dc.description© 2019 Elsevier B.V. All rights reserved.pt_PT
dc.description.abstractAmyotrophic lateral sclerosis (ALS) is usually sporadic, but 20% of European ancestry cases have a family history of ALS or frontotemporal dementia (FTD). More than 30 genes confer a higher risk for ALS, and C9orf72, TARDBP, SOD1 and FUS account for nearly 70% of all familial (fALS) cases. Tank-binding kinase 1 (TBK1) is an established causal gene associated with 1% of fALS and/or FTD. It codes for a multifunctional kinase involved in multiple cellular processes, such as neuroinflammation and autophagy. Both loss-of-function (LoF) and missense mutations are associated with an increased risk for ALS-FTD spectrum and mutations that cause a 50% reduction of TBK1 protein levels are considered pathogenic.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Neurol Sci. 2019 Aug 15;403:117-118pt_PT
dc.identifier.doi10.1016/j.jns.2019.06.029pt_PT
dc.identifier.eissn1878-5883
dc.identifier.issn0022-510X
dc.identifier.urihttp://hdl.handle.net/10451/49915
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.relation.publisherversionhttps://www.sciencedirect.com/journal/journal-of-the-neurological-sciencespt_PT
dc.subjectAmyotrophic lateral sclerosispt_PT
dc.subjectFamilial motor neuron disorderpt_PT
dc.subjectPrimary lateral sclerosis phenotypept_PT
dc.subjectTBK1 mutationpt_PT
dc.titleNovel TBK1 LoF variant in a family with upper motor neuron predominant motor neuron diseasept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage118pt_PT
oaire.citation.startPage117pt_PT
oaire.citation.titleJournal of the Neurological Sciencespt_PT
oaire.citation.volume403pt_PT
person.familyNameSilva
person.familyNamePronto Laborinho
person.familyNameMiltenberger-Miltenyi
person.familyNamede Carvalho
person.givenNameMarta Luísa Gromicho Morgado
person.givenNameAna Catarina
person.givenNameGabriel
person.givenNameMamede
person.identifierB-2171-2018
person.identifier.ciencia-idEA1D-1979-5C3A
person.identifier.ciencia-id891E-679B-B2DE
person.identifier.ciencia-idAE16-3A8D-0392
person.identifier.orcid0000-0003-2111-4579
person.identifier.orcid0000-0002-2816-9698
person.identifier.orcid0000-0003-0224-1281
person.identifier.orcid0000-0001-7556-0158
person.identifier.scopus-author-id6506583274
person.identifier.scopus-author-id56177475200
person.identifier.scopus-author-id7101893769
rcaap.rightsrestrictedAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationc6f0ac72-fdd9-499d-87e2-f13aa1545565
relation.isAuthorOfPublication3726b674-773c-4838-b02e-da9bc38ccbe6
relation.isAuthorOfPublication58c7f5b7-9f9d-42b6-9b39-c53dd40a79c7
relation.isAuthorOfPublicationdd7f55d4-c2b5-4fd2-9bd1-a9542a62f58f
relation.isAuthorOfPublication.latestForDiscovery3726b674-773c-4838-b02e-da9bc38ccbe6

Ficheiros

Principais
A mostrar 1 - 1 de 1
Miniatura indisponível
Nome:
Novel_TBK1.pdf
Tamanho:
446.29 KB
Formato:
Adobe Portable Document Format
Ver/Abrir

Coleções

IMM - Artigos em Revistas Internacionais
FM - Artigos em Revistas Internacionais