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Abnormal fatty acid metabolism is a core component of spinal muscular atrophy

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dc.contributor.authorDeguise, Marc‐Olivier
dc.contributor.authorBaranello, Giovanni
dc.contributor.authorMastella, Chiara
dc.contributor.authorBeauvais , Ariane
dc.contributor.authorMichaud, Jean
dc.contributor.authorLeone, Alessandro
dc.contributor.authorDe Amicis, Ramona
dc.contributor.authorBattezzati, Alberto
dc.contributor.authorDunham, Christopher
dc.contributor.authorSelby, Kathryn
dc.contributor.authorChardon, Jodi Warman
dc.contributor.authorMcMillan, Hugh J.
dc.contributor.authorHuang, Yu‐Ting
dc.contributor.authorCourtney, Natalie L.
dc.contributor.authorMole, Alannah J.
dc.contributor.authorKubinski, Sabrina
dc.contributor.authorClaus, Peter
dc.contributor.authorMurray, Lyndsay M.
dc.contributor.authorBowerman, Melissa
dc.contributor.authorGillingwater, Thomas H.
dc.contributor.authorBertoli, Simona
dc.contributor.authorParson, Simon H.
dc.contributor.authorKothary, Rashmi
dc.contributor.institutionUniversity of Aberdeen.Medical Educationen
dc.contributor.institutionUniversity of Aberdeen.The Suttie Centre - Anatomyen
dc.date.accessioned2019-08-13T15:40:08Z
dc.date.available2019-08-13T15:40:08Z
dc.date.issued2019-08-01
dc.descriptionFunding RK was supported by Cure SMA/Families of SMA Canada (KOT‐1819); Muscular Dystrophy Association (USA) (grant number 575466); Canadian Institutes of Health Research (CIHR) (grant number PJT‐156379); and the E‐Rare‐2 program from the CIHR (grant number ERL‐138414). The Italian group (GB, CM, RDA, AB, AL) was funded by the Italian Association of SMA Families (Famiglie SMA, 2015‐2016 contribution) and by Fondazione Telethon (Application GUP15014, 2015, Italy). LMM is supported by grants from Cure SMA (grant number MU1415); Fight SMA; Muscular Dystrophy Association (grant number 417757); Tenovus Scotland (E15/4); and Newlife foundation for disabled children (SG/14‐15/08). THG was supported by UK SMA Research Consortium and SMA Europe. SHP was supported by Tenovus (Scotland) and The Euan Macdonald Centre for Research into Motor Neurone Diseases. MB was supported by UK SMA Research Consortium and SMA Angels Charity. The Vanderbilt Mouse Metabolic Phenotyping Center was supported by National Institutes of Health (NIH) grant DK59637. The University of Massachusetts Medical School National Mouse Metabolic Phenotyping Center (MMPC) is supported by NIH grant (2U2C‐DK093000). MOD was supported by Frederick Banting and Charles Best CIHR Doctoral Research Award.en
dc.description.statusPeer revieweden
dc.format.extent14
dc.format.extent8420149
dc.identifier145630535
dc.identifier9d1cc60e-1ecc-4071-8005-72e30ecfbb29
dc.identifier31402618
dc.identifier000479366400001
dc.identifier85070657590
dc.identifier.citationDeguise, MO, Baranello, G, Mastella, C, Beauvais , A, Michaud, J, Leone, A, De Amicis, R, Battezzati, A, Dunham, C, Selby, K, Chardon, J W, McMillan, H J, Huang, YT, Courtney, N L, Mole, A J, Kubinski, S, Claus, P, Murray, L M, Bowerman, M, Gillingwater, T H, Bertoli, S, Parson, S H & Kothary, R 2019, 'Abnormal fatty acid metabolism is a core component of spinal muscular atrophy', Annals of Clinical and Translational Neurology, vol. 6, no. 8, pp. 1519-1532. https://doi.org/10.1002/acn3.50855en
dc.identifier.doi10.1002/acn3.50855
dc.identifier.iss8en
dc.identifier.issn2328-9503
dc.identifier.otherMendeley: bcc178b8-6fe9-3387-b6c3-22324906704e
dc.identifier.otherORCID: /0000-0002-8848-8738/work/82379615
dc.identifier.urihttp://hdl.handle.net/2164/12714
dc.identifier.urlhttp://www.mendeley.com/research/abnormal-fatty-acid-metabolism-core-component-spinal-muscular-atrophyen
dc.identifier.vol6en
dc.language.isoeng
dc.relation.ispartofAnnals of Clinical and Translational Neurologyen
dc.subjectMOTOR-NEURON PROTEINen
dc.subjectGLUCOSE-METABOLISMen
dc.subjectINTRINSIC DEFECTSen
dc.subjectCARDIAC DEFECTSen
dc.subjectMOUSE MODELen
dc.subjectPREVALENCEen
dc.subjectCHILDRENen
dc.subjectLIVERen
dc.subjectDYSLIPIDEMIAen
dc.subjectADOLESCENTSen
dc.subjectR Medicine (General)en
dc.subject.lccR1en
dc.titleAbnormal fatty acid metabolism is a core component of spinal muscular atrophyen
dc.typeJournal articleen

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