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C9orf72 expansion is associated with accelerated decline of respiratory function and decreased survival in amyotrophic lateral sclerosis

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dc.contributor.authorMiltenberger-Miltenyi, Gabriel
dc.contributor.authorConceição, Vasco A.
dc.contributor.authorGromicho, Marta
dc.contributor.authorPronto Laborinho, Ana Catarina
dc.contributor.authorPinto, Susana
dc.contributor.authorAndersen, Peter Munch
dc.contributor.authorCarvalho, Mamede
dc.date.accessioned2022-04-12T13:24:38Z
dc.date.available2022-04-12T13:24:38Z
dc.date.issued2019
dc.description© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2019. All rights reserved. No commercial use is permitted unless otherwise expressly granted.pt_PT
dc.description.abstractAmyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder with short survival, mainly due to respiratory failure. A pathological repeat expansion in the C9orf72 gene is observed in about 10% of the European ALS population and is associated with a worse prognosis. Still, the exact function of this gene is unknown. To understand the role of the C9orf72 expansion in disease prognosis, we tested the impact of this mutation on the respiratory function in ALS.pt_PT
dc.description.sponsorshipThis study is included in the ONWebDUALS project (JPND- PS/0001/2013), an EU Joint Programme—Neurodegenerative Disease Research (JPND)—Fundação para a Ciência e Tecnologia initiative. VAC was independently funded by a PhD fellowship (PD/BD/105852/2014) from Fundação para a Ciência e Tecnologia, Portugal.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Neurol Neurosurg Psychiatry. 2019 Jan;90(1):118-120pt_PT
dc.identifier.doi10.1136/jnnp-2018-318032pt_PT
dc.identifier.eissn1468-330X
dc.identifier.issn0022-3050
dc.identifier.urihttp://hdl.handle.net/10451/52300
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherBMJ Publishing Group Ltd.pt_PT
dc.relationONTology-based Web Database for Understanding Amyotrophic Lateral Sclerosis<br>
dc.relationA DEFINIR
dc.relation.publisherversionhttps://jnnp.bmj.com/pt_PT
dc.titleC9orf72 expansion is associated with accelerated decline of respiratory function and decreased survival in amyotrophic lateral sclerosispt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardNumberJPND-PS/0001/2013
oaire.awardNumberPD/BD/105852/2014
oaire.awardTitleONTology-based Web Database for Understanding Amyotrophic Lateral Sclerosis<br>
oaire.awardTitleA DEFINIR
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/JPND-PS%2F0001%2F2013/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT//PD%2FBD%2F105852%2F2014/PT
oaire.citation.endPage120pt_PT
oaire.citation.issue1pt_PT
oaire.citation.startPage118pt_PT
oaire.citation.titleJournal of Neurology, Neurosurgery & Psychiatrypt_PT
oaire.citation.volume90pt_PT
oaire.fundingStream3599-PPCDT
person.familyNameMiltenberger-Miltenyi
person.familyNameA. Conceição
person.familyNameSilva
person.familyNamePronto Laborinho
person.familyNamePinto
person.familyNameAndersen
person.familyNamede Carvalho
person.givenNameGabriel
person.givenNameVasco
person.givenNameMarta Luísa Gromicho Morgado
person.givenNameAna Catarina
person.givenNameSusana
person.givenNamePeter Munch
person.givenNameMamede
person.identifierB-2171-2018
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person.identifier.orcid0000-0002-2816-9698
person.identifier.orcid0000-0002-0727-5897
person.identifier.orcid0000-0003-0094-5429
person.identifier.orcid0000-0001-7556-0158
person.identifier.ridF-4325-2018
person.identifier.ridL-8394-2019
person.identifier.scopus-author-id57195033520
person.identifier.scopus-author-id6506583274
person.identifier.scopus-author-id56177475200
person.identifier.scopus-author-id23397978500
person.identifier.scopus-author-id7101893769
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsrestrictedAccesspt_PT
rcaap.typearticlept_PT
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