Peripheral neuropathy in ALS: phenotype association

Detalhes bibliográficos
Autor(a) principal: Carvalho, Mamede
Data de Publicação: 2021
Outros Autores: Gromicho, Marta, Andersen, Peter, Grosskreutz, Julian, Kuzma-Kozakiewicz, Magdalena, Petri, Susanne, Uysal, Hilmi, Pinto, Susana
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10451/49853
Resumo: © Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.
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spelling Peripheral neuropathy in ALS: phenotype associationC9ORFEMGMotor neuron diseaseNeuropathy© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.Amyotrophic lateral sclerosis (ALS) is a rare and progressive neurodegenerative disease mainly affecting upper and lower motor neurons but also causing multisystem involvement, in particular, associated with cognitive changes. Minor sensory fibre dysfunction has been described in the past and confirmed in recent studies. In a multicentre study investigating a population of 88 patients with ALS, the ESTEEM group (a European Telematic Project for quality assurance within Clinical Neurophysiology) reported sensory polyneuropathy (PNP) in 12.5% of the patients, not influenced by age, disease duration and onset region. In this study, we aimed to readdress prevalence of and risk factors for PNP in a larger population of patients with ALS. A large number of variables, including gene mutations, were assessed.BMJ Publishing Group Ltd.Repositório da Universidade de LisboaCarvalho, MamedeGromicho, MartaAndersen, PeterGrosskreutz, JulianKuzma-Kozakiewicz, MagdalenaPetri, SusanneUysal, HilmiPinto, Susana2021-10-11T14:47:35Z20212021-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/49853engJ Neurol Neurosurg Psychiatry. 2021 Oct;92(10):1133-11340022-305010.1136/jnnp-2020-3251641468-330Xinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-11-08T16:53:44Zoai:repositorio.ul.pt:10451/49853Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T22:01:21.861055Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Peripheral neuropathy in ALS: phenotype association
title Peripheral neuropathy in ALS: phenotype association
spellingShingle Peripheral neuropathy in ALS: phenotype association
Carvalho, Mamede
C9ORF
EMG
Motor neuron disease
Neuropathy
title_short Peripheral neuropathy in ALS: phenotype association
title_full Peripheral neuropathy in ALS: phenotype association
title_fullStr Peripheral neuropathy in ALS: phenotype association
title_full_unstemmed Peripheral neuropathy in ALS: phenotype association
title_sort Peripheral neuropathy in ALS: phenotype association
author Carvalho, Mamede
author_facet Carvalho, Mamede
Gromicho, Marta
Andersen, Peter
Grosskreutz, Julian
Kuzma-Kozakiewicz, Magdalena
Petri, Susanne
Uysal, Hilmi
Pinto, Susana
author_role author
author2 Gromicho, Marta
Andersen, Peter
Grosskreutz, Julian
Kuzma-Kozakiewicz, Magdalena
Petri, Susanne
Uysal, Hilmi
Pinto, Susana
author2_role author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório da Universidade de Lisboa
dc.contributor.author.fl_str_mv Carvalho, Mamede
Gromicho, Marta
Andersen, Peter
Grosskreutz, Julian
Kuzma-Kozakiewicz, Magdalena
Petri, Susanne
Uysal, Hilmi
Pinto, Susana
dc.subject.por.fl_str_mv C9ORF
EMG
Motor neuron disease
Neuropathy
topic C9ORF
EMG
Motor neuron disease
Neuropathy
description © Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.
publishDate 2021
dc.date.none.fl_str_mv 2021-10-11T14:47:35Z
2021
2021-01-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10451/49853
url http://hdl.handle.net/10451/49853
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv J Neurol Neurosurg Psychiatry. 2021 Oct;92(10):1133-1134
0022-3050
10.1136/jnnp-2020-325164
1468-330X
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv BMJ Publishing Group Ltd.
publisher.none.fl_str_mv BMJ Publishing Group Ltd.
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
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reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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