Utilize este identificador para referenciar este registo:
https://hdl.handle.net/1822/57870
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Campo DC | Valor | Idioma |
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dc.contributor.author | Lopes, Fátima Daniela Teixeira | por |
dc.contributor.author | Miguet, M. | por |
dc.contributor.author | Mucha, B. E. | por |
dc.contributor.author | Gauthier, J. | por |
dc.contributor.author | Saillour, V. | por |
dc.contributor.author | Nguyen, C.-T. É. | por |
dc.contributor.author | Vanasse, M. | por |
dc.contributor.author | Ellezam, B. | por |
dc.contributor.author | Michaud, J. L. | por |
dc.contributor.author | Soucy, J.-F. | por |
dc.contributor.author | Campeau, P. M. | por |
dc.date.accessioned | 2019-01-07T15:59:07Z | - |
dc.date.available | 2020-01-01T07:00:42Z | - |
dc.date.issued | 2018-12 | - |
dc.identifier.issn | 1351-5101 | - |
dc.identifier.uri | https://hdl.handle.net/1822/57870 | - |
dc.description.abstract | [Excerpt] Introduction Myogenic Differentiation 1 (MYOD1) encodes a transcription factor that plays an important role in myogenic determination into mature skeletal muscle [1]. The first loss-of-function mutation of MYOD1 in humans was described in three siblings with perinatal lethal fetal akinesia [2].[...] | por |
dc.description.sponsorship | We thank the individual and family. Funding was provided by The Fonds de recherche du Québec - Santé (FRQS) and Canadian Institutes of Health Research (CIHR) to P.M.C., Fundação para a Ciência e Tecnologia (FCT) with the fellowship SFRH/BD/84650/2010 to F.L. and Groupe Pasteur Mutualité Foundation (GPM Foundation) to M.M. | por |
dc.language.iso | eng | por |
dc.publisher | European Academy of Neurology (EAN) | por |
dc.relation | SFRH/BD/84650/2010 | - |
dc.rights | openAccess | por |
dc.subject | Myogenic Differentiation 1 | por |
dc.subject | Myopathy | por |
dc.subject | Respiratory insufficiency | por |
dc.title | MYOD1 involvement in myopathy | por |
dc.type | letterToEditor | por |
dc.peerreviewed | yes | por |
oaire.citationStartPage | e123 | por |
oaire.citationEndPage | e124 | por |
oaire.citationIssue | 12 | por |
oaire.citationVolume | 25 | por |
dc.identifier.eissn | 1468-1331 | - |
dc.identifier.doi | 10.1111/ene.13782 | por |
dc.identifier.pmid | 30403323 | por |
dc.description.publicationversion | info:eu-repo/semantics/publishedVersion | por |
dc.subject.wos | Science & Technology | por |
sdum.journal | European Journal of Neurology | por |
Aparece nas coleções: | ICVS - Artigos em revistas internacionais / Papers in international journals |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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Lopes_F_2018_MYOD1 involvement in myopathy.pdf | 101,68 kB | Adobe PDF | Ver/Abrir |