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dc.contributor.authorBurns, David Ten
dc.contributor.authorDonkervoort, Sandraen
dc.contributor.authorMüller, Juliane Sen
dc.contributor.authorKnierim, Ellenen
dc.contributor.authorBharucha-Goebel, Dianaen
dc.contributor.authorFaqeih, Eissa Alien
dc.contributor.authorBell, Stephanie Ken
dc.contributor.authorAlFaifi, Abdullah Yen
dc.contributor.authorMonies, Dorotaen
dc.contributor.authorMillan, Franciscaen
dc.contributor.authorRetterer, Kyleen
dc.contributor.authorDyack, Sarahen
dc.contributor.authorMacKay, Saraen
dc.contributor.authorMorales-Gonzalez, Susanneen
dc.contributor.authorGiunta, Micheleen
dc.contributor.authorMunro, Benjaminen
dc.contributor.authorHudson, Gavinen
dc.contributor.authorScavina, Menaen
dc.contributor.authorBaker, Lauraen
dc.contributor.authorMassini, Tara Cen
dc.contributor.authorLek, Monkolen
dc.contributor.authorHu, Yingen
dc.contributor.authorEzzo, Danielen
dc.contributor.authorAlKuraya, Fowzan Sen
dc.contributor.authorKang, Peter Ben
dc.contributor.authorGriffin, Helenen
dc.contributor.authorFoley, A Reghanen
dc.contributor.authorSchuelke, Markusen
dc.contributor.authorHorvath, Ritaen
dc.contributor.authorBönnemann, Carsten Gen
dc.date.accessioned2019-03-08T00:31:01Z
dc.date.available2019-03-08T00:31:01Z
dc.date.issued2018-05en
dc.identifier.issn0002-9297
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/290340
dc.format.mediumPrinten
dc.languageengen
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectMuscle, Skeletalen
dc.subjectCerebellumen
dc.subjectSpinal Corden
dc.subjectMotor Neuronsen
dc.subjectFibroblastsen
dc.subjectAnimalsen
dc.subjectZebrafishen
dc.subjectHumansen
dc.subjectAtrophyen
dc.subjectRNA-Binding Proteinsen
dc.subjectPedigreeen
dc.subjectAmino Acid Sequenceen
dc.subjectBase Sequenceen
dc.subjectHaplotypesen
dc.subjectChild, Preschoolen
dc.subjectInfanten
dc.subjectFemaleen
dc.subjectMaleen
dc.subjectGenetic Variationen
dc.subjectExosomesen
dc.subjectGene Knockdown Techniquesen
dc.subjectExosome Multienzyme Ribonuclease Complexen
dc.titleVariants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.en
dc.typeArticle
prism.endingPage873
prism.issueIdentifier5en
prism.publicationDate2018en
prism.publicationNameAmerican journal of human geneticsen
prism.startingPage858
prism.volume102en
dc.identifier.doi10.17863/CAM.37570
dcterms.dateAccepted2018-03-06en
rioxxterms.versionofrecord10.1016/j.ajhg.2018.03.011en
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserveden
rioxxterms.licenseref.startdate2018-05en
dc.contributor.orcidGiunta, Michele [0000-0002-5829-0245]
dc.contributor.orcidMunro, Benjamin [0000-0003-4506-7092]
dc.contributor.orcidGriffin, Helen [0000-0002-5288-3322]
dc.contributor.orcidHorvath, Rita [0000-0002-9841-170X]
dc.identifier.eissn1537-6605
rioxxterms.typeJournal Article/Reviewen
pubs.funder-project-idWellcome Trust (109915_A_15_Z)
pubs.funder-project-idMRC (MR/N025431/2)


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Attribution 4.0 International
Except where otherwise noted, this item's licence is described as Attribution 4.0 International