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Two homozygous KIF1C variants in a Turkish family presenting with cerebellar dysfunction and spastic paraparesis with MRI findings

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dc.contributor.coauthorTarhan, Güllü (58017500900)
dc.contributor.coauthorHiz, Sahinde Fazilet (60210556700)
dc.contributor.coauthorInanir, Busra Elif (60210259200)
dc.contributor.coauthorŞimşir, Gulsah (57211858249)
dc.contributor.coauthorTekgul, Seyma (57216256757)
dc.contributor.coauthorBaşak, Ayse Nazlı (57220887724)
dc.contributor.coauthorDogan, Sebahat Nacar (57208124697)
dc.date.accessioned2025-12-31T08:25:19Z
dc.date.available2025-12-31
dc.date.issued2026
dc.description.abstract[No abstract available]
dc.description.fulltextYes
dc.description.harvestedfromManual
dc.description.indexedbyScopus
dc.description.indexedbyPubMed
dc.description.publisherscopeInternational
dc.description.readpublishN/A
dc.description.sponsoredbyTubitakEuN/A
dc.identifier.doi10.1016/j.parkreldis.2025.108127
dc.identifier.embargoNo
dc.identifier.issn1353-8020
dc.identifier.pubmed41317601
dc.identifier.quartileN/A
dc.identifier.scopus2-s2.0-105022919196
dc.identifier.urihttps://doi.org/10.1016/j.parkreldis.2025.108127
dc.identifier.urihttps://hdl.handle.net/20.500.14288/31861
dc.identifier.volume142
dc.keywordsHereditary spastic paraplegia
dc.keywordsKIF1C variants
dc.keywordsWhole exome sequencing
dc.language.isoeng
dc.publisherElsevier Ltd
dc.relation.affiliationKoç University
dc.relation.collectionKoç University Institutional Repository
dc.relation.ispartofParkinsonism and Related Disorders
dc.relation.openaccessYes
dc.rightsCC BY-NC-ND (Attribution-NonCommercial-NoDerivs)
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/4.0/
dc.titleTwo homozygous KIF1C variants in a Turkish family presenting with cerebellar dysfunction and spastic paraparesis with MRI findings
dc.typeLetter
dspace.entity.typePublication

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