Publication:
Nuclear envelope gene FAM169A causes combined lower and upper motor neuropathy through heterozygous loss-of-function mutations

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dc.conference.dateJUN 22-25, 2024
dc.conference.locationMontreal, CANADA
dc.contributor.coauthorDohrn, Maike
dc.contributor.coauthorBeijer, Danique
dc.contributor.coauthorRogers, Millie
dc.contributor.coauthorVan de Vondel, Liedewei
dc.contributor.coauthorRaposo, Jacquelyn
dc.contributor.coauthorDe Jesus, Yeisha Arcia
dc.contributor.coauthorLischka, Annette
dc.contributor.coauthorde Winter, Jonathan
dc.contributor.coauthorBaets, Jonathan
dc.contributor.coauthorKennerson, Marina
dc.contributor.coauthorAuer-Grumbach, Michaela
dc.contributor.coauthorAntonin, Wolfram
dc.contributor.coauthorRebelo, Adriana
dc.contributor.coauthorDallman, Julia
dc.contributor.coauthorZuchner, Stephan
dc.contributor.departmentSchool of Medicine
dc.contributor.kuauthorBaşak, Ayşe Nazlı
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2026-01-09T06:07:07Z
dc.date.available2026-01-09
dc.date.issued2024
dc.description.fulltextNo
dc.description.harvestedfromManual
dc.description.indexedbyWOS
dc.description.publisherscopeInternational
dc.description.readpublishN/A
dc.description.sponsoredbyTubitakEuN/A
dc.description.sponsorshipNIH; German Research Foundation (DFG)
dc.identifier.eissn1529-8027
dc.identifier.embargoNo
dc.identifier.endpageS158
dc.identifier.issn1085-9489
dc.identifier.quartileQ2
dc.identifier.scopusN/A
dc.identifier.startpageS157
dc.identifier.urihttps://hdl.handle.net/20.500.14288/31909
dc.identifier.volume29
dc.identifier.wos001319566000317
dc.keywordsCMT
dc.keywordsMotor neuron disease
dc.keywordsNuclear envelope
dc.keywordsMass spectrometry
dc.keywordsZebrafish model
dc.language.isoeng
dc.publisherWiley
dc.relation.affiliationKoç University
dc.relation.collectionKoç University Institutional Repository
dc.relation.ispartofJournal of The Peripheral Nervous System
dc.relation.ispartofAnnual Meeting of the Peripheral-Nerve-Society (PNS)
dc.relation.openaccessNo
dc.rightsCopyrighted
dc.subjectClinical Neurology
dc.subjectNeurosciences
dc.titleNuclear envelope gene FAM169A causes combined lower and upper motor neuropathy through heterozygous loss-of-function mutations
dc.typeMeeting Abstract
dspace.entity.typePublication
person.familyNameBaşak
person.givenNameAyşe Nazlı
relation.isOrgUnitOfPublicationd02929e1-2a70-44f0-ae17-7819f587bedd
relation.isOrgUnitOfPublication.latestForDiscoveryd02929e1-2a70-44f0-ae17-7819f587bedd
relation.isParentOrgUnitOfPublication17f2dc8e-6e54-4fa8-b5e0-d6415123a93e
relation.isParentOrgUnitOfPublication.latestForDiscovery17f2dc8e-6e54-4fa8-b5e0-d6415123a93e

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