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

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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.coauthorBasak, A.
dc.contributor.coauthorDunn, T.
dc.contributor.coauthorTornemann, H.
dc.contributor.coauthorSuchner, Z.
dc.contributor.coauthorBonnemann, C.
dc.contributor.departmentSchool of Medicine
dc.contributor.departmentGraduate School of Health Sciences
dc.contributor.facultymemberYes
dc.contributor.kuauthorOflazer, Piraye
dc.contributor.kuauthorBayraktar, Elif
dc.contributor.schoolcollegeinstituteGRADUATE SCHOOL OF HEALTH SCIENCES
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2025-01-19T10:29:09Z
dc.date.issued2023
dc.description.abstractBAKILACAK
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.doi10.1016/j.nmd.2023.07.169
dc.identifier.eissn1873-2364
dc.identifier.embargoN/A
dc.identifier.issn0960-8966
dc.identifier.quartileQ2
dc.identifier.urihttps://doi.org/10.1016/j.nmd.2023.07.169
dc.identifier.urihttps://hdl.handle.net/20.500.14288/25842
dc.identifier.wos1087070800158
dc.language.isoeng
dc.publisherPergamon-Elsevier Science Ltd
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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