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Does it Make Sense to Think about Nonsense Mutations in Neurology?

Bibliographic Details
Main Author: Rodrigues, Miguel
Publication Date: 2023
Format: Article
Language: por
Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Download full: https://doi.org/10.46531/sinapse/ED/230030/2023
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network_acronym_str RCAP
network_name_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository_id_str https://opendoar.ac.uk/repository/7160
spelling Does it Make Sense to Think about Nonsense Mutations in Neurology?Faz Sentido Pensar nas Mutações Sem Sentido em Neurologia?AtalurenCodon, NonsenseGenetic Diseases, InbornMuscular Dystrophy, Duchenne/geneticsAtalurenoDistrofia Muscular de Duchenne/genéticaDoenças Genéticas InatasMutação sem SentidoPortuguese Society of Neurology2023-05-19info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://doi.org/10.46531/sinapse/ED/230030/2023https://doi.org/10.46531/sinapse/ED/230030/2023Sinapse; Vol. 23 No. 1 (2023): January - March; 4-5Sinapse; Vol. 23 N.º 1 (2023): Janeiro - Março; 4-52184-42401645-281Xreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAPporhttps://sinapse.pt/index.php/journal/article/view/27https://sinapse.pt/index.php/journal/article/view/27/26Rodrigues, Miguelinfo:eu-repo/semantics/openAccess2024-04-30T10:08:46Zoai:sinapse.pt:article/27Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-28T13:33:55.410985Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
dc.title.none.fl_str_mv Does it Make Sense to Think about Nonsense Mutations in Neurology?
Faz Sentido Pensar nas Mutações Sem Sentido em Neurologia?
title Does it Make Sense to Think about Nonsense Mutations in Neurology?
spellingShingle Does it Make Sense to Think about Nonsense Mutations in Neurology?
Rodrigues, Miguel
Ataluren
Codon, Nonsense
Genetic Diseases, Inborn
Muscular Dystrophy, Duchenne/genetics
Atalureno
Distrofia Muscular de Duchenne/genética
Doenças Genéticas Inatas
Mutação sem Sentido
title_short Does it Make Sense to Think about Nonsense Mutations in Neurology?
title_full Does it Make Sense to Think about Nonsense Mutations in Neurology?
title_fullStr Does it Make Sense to Think about Nonsense Mutations in Neurology?
title_full_unstemmed Does it Make Sense to Think about Nonsense Mutations in Neurology?
title_sort Does it Make Sense to Think about Nonsense Mutations in Neurology?
author Rodrigues, Miguel
author_facet Rodrigues, Miguel
author_role author
dc.contributor.author.fl_str_mv Rodrigues, Miguel
dc.subject.por.fl_str_mv Ataluren
Codon, Nonsense
Genetic Diseases, Inborn
Muscular Dystrophy, Duchenne/genetics
Atalureno
Distrofia Muscular de Duchenne/genética
Doenças Genéticas Inatas
Mutação sem Sentido
topic Ataluren
Codon, Nonsense
Genetic Diseases, Inborn
Muscular Dystrophy, Duchenne/genetics
Atalureno
Distrofia Muscular de Duchenne/genética
Doenças Genéticas Inatas
Mutação sem Sentido
publishDate 2023
dc.date.none.fl_str_mv 2023-05-19
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 https://doi.org/10.46531/sinapse/ED/230030/2023
https://doi.org/10.46531/sinapse/ED/230030/2023
url https://doi.org/10.46531/sinapse/ED/230030/2023
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv https://sinapse.pt/index.php/journal/article/view/27
https://sinapse.pt/index.php/journal/article/view/27/26
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 Portuguese Society of Neurology
publisher.none.fl_str_mv Portuguese Society of Neurology
dc.source.none.fl_str_mv Sinapse; Vol. 23 No. 1 (2023): January - March; 4-5
Sinapse; Vol. 23 N.º 1 (2023): Janeiro - Março; 4-5
2184-4240
1645-281X
reponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron:RCAAP
instname_str FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron_str RCAAP
institution RCAAP
reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
repository.mail.fl_str_mv info@rcaap.pt
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