MYOD1 involvement in myopathy

doi:10.1111/ene.13782

Utilize este identificador para referenciar este registo: https://hdl.handle.net/1822/57870

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Campo DC	Valor	Idioma
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