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Alternative splicing expands the clinical spectrum of ndufs6-related mitochondrial disorders
| dc.contributor.author | Armirola Ricaurte, C. | |
| dc.contributor.author | Zonnekein, N. | |
| dc.contributor.author | Koutsis, G. | |
| dc.contributor.author | Morís de la Tassa, Germán | |
| dc.date.accessioned | 2024-10-09T06:18:18Z | |
| dc.date.available | 2024-10-09T06:18:18Z | |
| dc.date.issued | 2024 | |
| dc.identifier.citation | Genetics in Medicine, 26(6) (2024); doi:10.1016/j.gim.2024.101117 | |
| dc.identifier.issn | 1098-3600 | |
| dc.identifier.uri | https://hdl.handle.net/10651/74895 | |
| dc.description.sponsorship | The European Community’s Seventh Framework Programme (FP7/ 2007-2013) under grant agreement n◦ 2012-305121 “Integrated European –omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases (NEUROMICS)” and CMMC (C18) to B.W., a CMMC clinical scientist award to M.K., the Carlos III Health Institute (ISCIII) (Grant PI21/00103 to C.E.), the European Union—European Regional Development Fund and the European Social Fund (FSE) “A way of making Europe.” This research was funded in part, by the Wellcome Trust (WT093205MA, WT104033AIA). This study makes use of data shared/provided through RDConnect, which received funding from the European Union Seventh Framework Programme (FP7/2007-2013) under grant agreement No. 305444. This project has received funding from the European Union’s Horizon 2020 research and innovation program under grant agreement No. 779257 (Solve-RD). | |
| dc.description.statementofresponsibility | Armirola-Ricaurte C., Zonnekein N., Koutsis G., Amor-Barris S., Pelayo-Negro A.L., Atkinson D., Efthymiou S., Turchetti V., Dinopoulos A., Garcia A., Karakaya M., Moris G., Polat A.I., Yiş U., Espinos C., Van de Vondel L., De Vriendt E., Karadima G., Wirth B., Hanna M., Houlden H., Berciano J., Jordanova A. | |
| dc.language.iso | eng | |
| dc.relation.ispartof | Genetics in Medicine | |
| dc.rights | © 2024 The Authors | |
| dc.rights | CC Reconocimiento 4.0 Internacional | |
| dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | |
| dc.source | Scopus | |
| dc.source.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85190331288&doi=10.1016%2fj.gim.2024.101117&partnerID=40&md5=faca94f6ef539e2578fe8df8bb910972 | |
| dc.title | Alternative splicing expands the clinical spectrum of ndufs6-related mitochondrial disorders | |
| dc.type | journal article | |
| dc.identifier.doi | 10.1016/j.gim.2024.101117 | |
| dc.relation.projectID | PI21/00103 | |
| dc.relation.projectID | info:eu-repo/grantAgreement/EC/FP7/305121/EU | |
| dc.relation.projectID | info:eu-repo/grantAgreement/EC/H2020/779257/EU | |
| dc.relation.publisherversion | http://dx.doi.org/10.1016/j.gim.2024.101117 | |
| dc.rights.accessRights | open access | |
| dc.type.hasVersion | VoR |
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