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

dc.contributor.authorKocoglu, Cemile
dc.contributor.authorGundogdu, Asli
dc.contributor.authorKocaman, Gulsen
dc.contributor.authorKahraman-Koytak, Pinar
dc.contributor.authorUluc, Kayihan
dc.contributor.authorKiziltan, Gunes
dc.contributor.authorBasak, A. Nazli
dc.date.accessioned2019-08-13T12:10:23Z
dc.date.accessioned2019-08-13T15:55:58Z
dc.date.available2019-08-13T12:10:23Z
dc.date.available2019-08-13T15:55:58Z
dc.date.issued2018
dc.identifier.issn2376-7839
dc.identifier.urihttps://dx.doi.org/10.1212/NXG.0000000000000218
dc.identifier.urihttp://hdl.handle.net/11446/2178
dc.descriptionWOS: 000430501700010en_US
dc.descriptionPubMed ID: 29379883en_US
dc.description.abstract…en_US
dc.description.sponsorshipSuna and Inan Kirac Foundation; Bogazici University Research Funden_US
dc.description.sponsorshipSupported by the Suna and Inan Kirac Foundation and Bogazici University Research Fund.en_US
dc.language.isoengen_US
dc.publisherLIPPINCOTT WILLIAMS & WILKINSen_US
dc.identifier.doi10.1212/NXG.0000000000000218en_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleHomozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 familiesen_US
dc.typearticleen_US
dc.relation.journalNEUROLOGY-GENETICSen_US
dc.departmentDBÜen_US
dc.identifier.issue1en_US
dc.identifier.volume4en_US
dc.contributor.authorID0000-0003-3222-874Xen_US
dc.contributor.authorID0000-0001-6132-2300en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.department-temp[Kocoglu, Cemile -- Gundogdu, Asli -- Basak, A. Nazli] Bogazici Univ, Suna & Inan Kirac Fdn, Mol Biol & Genet Dept, Neurodegenerat Res Lab NDAL, Istanbul, Turkey -- [Kocaman, Gulsen] Bezmialem Vakif Univ, Med Fac, Dept Neurol, Istanbul, Turkey -- [Kahraman-Koytak, Pinar -- Uluc, Kayihan] Marmara Univ, Fac Med, Dept Neurol, Istanbul, Turkey -- [Kiziltan, Gunes] Istanbul Univ, Cerrahpasa Fac Med, Dept Neurol, Istanbul, Turkey -- [Caglayan, Ahmet Okay] Istanbul Bilim Univ, Sch Med, Dept Med Genet, Istanbul, Turkey -- [Caglayan, Ahmet Okay] Yale Univ, Sch Med, Dept Neurosurg Neurobiol & Genet, New Haven, CT USA -- [Bilguv, Kaya] Yale Univ, Sch Med, Dept Genet, Yale Ctr Genome Anal, New Haven, CT 06510 USA -- [Vural, Atay] Koc Univ Hosp, Dept Neurol, Istanbul, Turkeyen_US


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