Publication:
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
dc.contributor.coauthorHiz, Sahinde Fazilet
dc.contributor.coauthorInanir, Busra Elif
dc.contributor.coauthorŞimşir, Gulsah
dc.contributor.coauthorDogan, Sebahat Nacar
dc.contributor.departmentSchool of Medicine
dc.contributor.departmentKUTTAM (Koç University Research Center for Translational Medicine)
dc.contributor.kuauthorBaşak, Ayşe Nazlı
dc.contributor.kuauthorTekgül, Şeyma
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.contributor.schoolcollegeinstituteResearch Center
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.indexedbyWOS
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.identifier.wos001632752200002
dc.keywordsHereditary spastic paraplegia
dc.keywordsKIF1C variants
dc.keywordsWhole exome sequencing
dc.language.isoeng
dc.publisherElsevier
dc.relation.affiliationKoç University
dc.relation.collectionKoç University Institutional Repository
dc.relation.ispartofParkinsonism and Related Disorders
dc.relation.openaccessNo
dc.rightsCopyrighted
dc.subjectMedicine
dc.titleTwo homozygous KIF1C variants in a Turkish family presenting with cerebellar dysfunction and spastic paraparesis with MRI findings
dc.typeLetter
dspace.entity.typePublication
person.familyNameBaşak
person.familyNameTekgül
person.givenNameAyşe Nazlı
person.givenNameŞeyma
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relation.isOrgUnitOfPublication91bbe15d-017f-446b-b102-ce755523d939
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