Genotypic and phenotypic features of McArdle disease: Insights from the Spanish national registry

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dc.contributor.authorLucía Mulas, Alejandro
dc.contributor.authorRuiz, Jonatan R.spa
dc.contributor.authorSantalla Hernández, Alfredo
dc.contributor.authorNogales-Gadea, Giselaspa
dc.contributor.authorRubio, Juan Carlosspa
dc.contributor.authorGarcía-Consuegra, Inésspa
dc.contributor.authorCabello Sánchez, Ana Belénspa
dc.contributor.authorPérez Ruiz, Margarita
dc.contributor.authorTeijeira, Susanaspa
dc.contributor.authorVieitez, Irenespa
dc.contributor.authorNavarro, Carmenspa
dc.contributor.authorArenas, Joaquínspa
dc.contributor.authorMartín, Miguel Ángelspa
dc.contributor.authorAndreu, Antoni L.spa
dc.date.accessioned2013-11-27T17:26:30Z
dc.date.available2013-11-27T17:26:30Z
dc.date.issued2012spa
dc.description.abstractPublished genotype/phenotype data on McArdle disease are limited in sample size. A single national (Spanish) registry of patients with McArdle disease was created with the purpose of analysing their genotypic and phenotypic characteristics.spa
dc.description.filiationUEMspa
dc.description.impact4.924 JCR (2012) Q1, 17/191 Clinical neurology, 17/135 Psychiatry, 4/198 Surgeryspa
dc.identifier.citationLucía-Mulas, A., Ruiz, J. R., Santalla, A., Nogales-Gadea, G., Rubio, J. C., García-Consuegra, I., ..., & Andreu, A. L. (2012). Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry. Journal of Neurology, Neurosurgery & Psychiatry, 83(3), 322-328.spa
dc.identifier.doi10.1136/jnnp-2011-301593spa
dc.identifier.issn00223050spa
dc.identifier.urihttp://hdl.handle.net/11268/787
dc.language.isoengspa
dc.peerreviewedSispa
dc.rights.accessRightsrestricted accessen
dc.subject.unescoGenética humanaspa
dc.titleGenotypic and phenotypic features of McArdle disease: Insights from the Spanish national registryspa
dc.typejournal articlespa
dspace.entity.typePublication
relation.isAuthorOfPublicationd3691359-d7bd-4a12-b84e-338e28c81f9f
relation.isAuthorOfPublicationf314feae-6e30-4d01-8813-40750f36154a
relation.isAuthorOfPublicationa5c08444-aa82-4924-a71e-de56086bcd7c
relation.isAuthorOfPublication.latestForDiscoveryd3691359-d7bd-4a12-b84e-338e28c81f9f

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