Publication:
Childhood onset amyotrophic lateral sclerosis associated with SPTLC2 gain-of-function pathogenic variants: clinical, genetic, and biochemical insights

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dc.conference.dateOCT 03-07, 2023
dc.conference.locationCharleston, South Carolina
dc.conference.organizer28th International Annual Congress of the World-Muscle-Society (WMS)
dc.contributor.coauthorBach, R. Or
dc.contributor.coauthorSyeda, S.
dc.contributor.coauthorMohassel, P.
dc.contributor.coauthorDohrn, M.
dc.contributor.coauthorLone, M.
dc.contributor.coauthorDonkervoort, S.
dc.contributor.coauthorFoley, A.
dc.contributor.coauthorBeijer, D.
dc.contributor.coauthorMunot, P.
dc.contributor.coauthorRose, A.
dc.contributor.coauthorLyons, M.
dc.contributor.coauthorMuntoni, F.
dc.contributor.coauthorDunn, T.
dc.contributor.coauthorTornemann, H.
dc.contributor.coauthorSuchner, Z.
dc.contributor.coauthorBonnemann, C.
dc.contributor.departmentSchool of Medicine
dc.contributor.departmentNDAL (Neurodegeneration Research Laboratory)
dc.contributor.facultymemberYes
dc.contributor.kuauthorOflazer, Piraye
dc.contributor.kuauthorBayraktar, Elif
dc.contributor.kuauthorBaşak, Ayşe Nazlı
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.contributor.schoolcollegeinstituteLaboratory
dc.date.accessioned2025-01-19T10:29:09Z
dc.date.issued2023
dc.description.fulltextNo
dc.description.harvestedfromManual
dc.description.indexedbyWOS
dc.description.openaccessN/A
dc.description.peerreviewstatusN/A
dc.description.publisherscopeInternational
dc.description.readpublishN/A
dc.description.sponsoredbyTubitakEuN/A
dc.description.studentonlypublicationNo
dc.description.studentpublicationYes
dc.description.versionN/A
dc.identifier.WoSQuartileQ2
dc.identifier.doi10.1016/j.nmd.2023.07.169
dc.identifier.eissn1873-2364
dc.identifier.embargoN/A
dc.identifier.endpageS107
dc.identifier.issn0960-8966
dc.identifier.startpageS107
dc.identifier.urihttps://doi.org/10.1016/j.nmd.2023.07.169
dc.identifier.urihttps://hdl.handle.net/20.500.14288/25842
dc.identifier.volume33
dc.identifier.wos001087070800158
dc.keywordsChildhood onset ALS
dc.keywordsSPTLC2 pathogenic variants
dc.keywordsClinical genetic biochemical insights
dc.keywordsSPTLC2
dc.keywordsAmyotrophic lateral sclerosis
dc.language.isoeng
dc.publisherElsevier
dc.relation.affiliationKoç University
dc.relation.collectionKoç University Institutional Repository
dc.relation.ispartofNeuromuscular Disorders
dc.relation.openaccessN/A
dc.rightsN/A
dc.subjectClinical neurology
dc.subjectNeurosciences
dc.titleChildhood onset amyotrophic lateral sclerosis associated with SPTLC2 gain-of-function pathogenic variants: clinical, genetic, and biochemical insights
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.kuauthorBayraktar, Elif
local.contributor.kuauthorOflazer, Piraye
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