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FBX07-R498X mutation: Phenotypic variability from chorea to early onset parkinsonism within a family

dc.contributor.authorErtan, Sibel
dc.contributor.authorBilgic, Başar
dc.contributor.authorBasak, A. Nazli
dc.contributor.authorHanagasi, Haşmet Ayhan
dc.contributor.authorGunduz, Aysegul
dc.contributor.authorEken, Asli Gundogdu
dc.contributor.authorBilguvar, Kaya
dc.contributor.authorGuenel, Murat
dc.date.accessioned2021-03-05T12:55:01Z
dc.date.available2021-03-05T12:55:01Z
dc.date.issued2014
dc.identifier.citationGunduz A., Eken A. G. , Bilgic B., Hanagasi H. A. , Bilguvar K., Guenel M., Basak A. N. , Ertan S., "FBX07-R498X mutation: Phenotypic variability from chorea to early onset parkinsonism within a family", PARKINSONISM & RELATED DISORDERS, cilt.20, ss.1253-1256, 2014
dc.identifier.issn1353-8020
dc.identifier.otherav_af8bf143-aae4-46db-b6fa-240d2074062b
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/117059
dc.identifier.urihttps://doi.org/10.1016/j.parkreldis.2014.07.016
dc.description.abstractObjective: FBXO7 mutations (PARK 15), first reported in 2008, are among the monogenic causes of early-onset parkinsonism. Classically, PARK 15 was suggested to correspond to previously described pallido-pyramidal syndrome. Here, we report clinical and genetic findings in a unique family of Kurdish origin with an FBXO7 mutation and presenting with diverse clinical phenotypes.
dc.language.isoeng
dc.subjectNöroloji
dc.subjectDahili Tıp Bilimleri
dc.subjectSağlık Bilimleri
dc.subjectTıp
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectKLİNİK NEUROLOJİ
dc.titleFBX07-R498X mutation: Phenotypic variability from chorea to early onset parkinsonism within a family
dc.typeMakale
dc.relation.journalPARKINSONISM & RELATED DISORDERS
dc.contributor.departmentBoğaziçi Üniversitesi , ,
dc.identifier.volume20
dc.identifier.issue11
dc.identifier.startpage1253
dc.identifier.endpage1256
dc.contributor.firstauthorID99042


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