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Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis

dc.contributor.authorCorrochano, Silvia
dc.contributor.authorMännikkö, Roope
dc.contributor.authorJoyce, Peter I
dc.contributor.authorMcGoldrick, Philip
dc.contributor.authorWettstein, Jessica
dc.contributor.authorLassi, Glenda
dc.contributor.authorRaja Rayan, Dipa L
dc.contributor.authorBlanco, Gonzalo
dc.contributor.authorQuinn, Colin
dc.contributor.authorLiavas, Andrianos
dc.contributor.authorLionikas, Arimantas
dc.contributor.authorAmior, Neta
dc.contributor.authorDick, James
dc.contributor.authorHealy, Estelle G
dc.contributor.authorStewart, Michelle
dc.contributor.authorCarter, Sarah
dc.contributor.authorHutchinson, Marie
dc.contributor.authorBentley, Liz
dc.contributor.authorFratta, Pietro
dc.contributor.authorCortese, Andrea
dc.contributor.authorCox, Roger
dc.contributor.authorBrown, Steve D M
dc.contributor.authorTucci, Valter
dc.contributor.authorWackerhage, Henning
dc.contributor.authorAmato, Anthony A
dc.contributor.authorGreensmith, Linda
dc.contributor.authorKoltzenburg, Martin
dc.contributor.authorHanna, Michael G
dc.contributor.authorAcevedo-Arozena, Abraham
dc.date.accessioned2015-02-05T16:01:01Z
dc.date.available2015-02-05T16:01:01Z
dc.date.issued2014-12
dc.identifier46276487
dc.identifier5629e60a-4dd9-4aae-865b-3d3ab26d6670
dc.identifier25348630
dc.identifier84922359133
dc.identifier.citationCorrochano , S , Männikkö , R , Joyce , P I , McGoldrick , P , Wettstein , J , Lassi , G , Raja Rayan , D L , Blanco , G , Quinn , C , Liavas , A , Lionikas , A , Amior , N , Dick , J , Healy , E G , Stewart , M , Carter , S , Hutchinson , M , Bentley , L , Fratta , P , Cortese , A , Cox , R , Brown , S D M , Tucci , V , Wackerhage , H , Amato , A A , Greensmith , L , Koltzenburg , M , Hanna , M G & Acevedo-Arozena , A 2014 , ' Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis ' , Brain , vol. 137 , no. 12 , pp. 3171-3185 . https://doi.org/10.1093/brain/awu292en
dc.identifier.issn0006-8950
dc.identifier.otherORCID: /0000-0002-0052-6171/work/76975810
dc.identifier.urihttp://hdl.handle.net/2164/4244
dc.description© The Author (2014). Published by Oxford University Press on behalf of the Guarantors of Brain. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. Acknowledgements We thank the MRC Mary Lyon Centre (Ward 6 and Sara Wells) and MRC Harwell GEMS, necropsy and histology teams for excellent technical support. We thank Dr Charlotte Dean for the analysis of neonatal lungs, Dr Karen Suetterlin and Dr Alison Landman for critical reading of the manuscript. Funding This study was supported by a Medical Research Council programme grant to SDMB and A A-A.en
dc.format.extent15
dc.format.extent1419784
dc.language.isoeng
dc.relation.ispartofBrainen
dc.subjectSCN4Aen
dc.subjectmiceen
dc.subjectAMPKen
dc.subjectperiodic paralysisen
dc.subjectmyotoniaen
dc.subjectR Medicineen
dc.subject.lccRen
dc.titleNovel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysisen
dc.typeJournal articleen
dc.contributor.institutionUniversity of Aberdeen.Medical Sciencesen
dc.description.statusPeer revieweden
dc.identifier.doi10.1093/brain/awu292


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