Publication:
Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families

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dc.contributor.coauthorKoçoğlu, Cemile
dc.contributor.coauthorGündoğdu, Aslı
dc.contributor.coauthorKocaman, Gülşen
dc.contributor.coauthorKahraman-Koytak, Pınar
dc.contributor.coauthorUluç, Kayıhan
dc.contributor.coauthorKızıltan, Güneş
dc.contributor.coauthorÇağlayan, Ahmet Okay
dc.contributor.coauthorBilguv, Kaya
dc.contributor.coauthorBaşak, A. Nazli
dc.contributor.departmentKUH (Koç University Hospital)
dc.contributor.kuauthorVural, Atay
dc.contributor.schoolcollegeinstituteKUH (KOÇ UNIVERSITY HOSPITAL)
dc.date.accessioned2024-11-09T11:42:42Z
dc.date.issued2018
dc.description.fulltextYES
dc.description.indexedbyWOS
dc.description.indexedbyScopus
dc.description.indexedbyPubMed
dc.description.issue1
dc.description.openaccessYES
dc.description.publisherscopeInternational
dc.description.sponsoredbyTubitakEuN/A
dc.description.sponsorshipSuna and İnan Kıraç Foundation
dc.description.sponsorshipBoğaziçi University Research Fund
dc.description.versionPublisher version
dc.description.volume4
dc.identifier.doi10.1212/NXG.0000000000000218
dc.identifier.eissn2376-7839
dc.identifier.embargoNO
dc.identifier.filenameinventorynoIR01429
dc.identifier.quartileN/A
dc.identifier.scopus2-s2.0-85048716971
dc.identifier.urihttps://hdl.handle.net/20.500.14288/241
dc.identifier.wos430501700010
dc.keywordsParaplegia
dc.language.isoeng
dc.publisherLippincott Williams and Wilkins (LWW)
dc.relation.ispartofNeurology: Genetics
dc.relation.urihttp://cdm21054.contentdm.oclc.org/cdm/ref/collection/IR/id/8025
dc.subjectClinical neurology
dc.titleHomozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families
dc.typeJournal Article
dspace.entity.typePublication
local.contributor.kuauthorVural, Atay
local.publication.orgunit1KUH (KOÇ UNIVERSITY HOSPITAL)
local.publication.orgunit2KUH (Koç University Hospital)
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relation.isParentOrgUnitOfPublication055775c9-9efe-43ec-814f-f6d771fa6dee
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