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A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family

dc.contributor.authorHanagasi, Haşmet Ayhan
dc.contributor.authorBilgic, Basar
dc.contributor.authorLohmann, Ebba
dc.contributor.authorEmre, Murat
dc.contributor.authorGuven, Gamze
dc.contributor.authorGiri, Anamika
dc.contributor.authorKartal, Ece
dc.contributor.authorHauser, Ann-Kathrin
dc.contributor.authorHeutink, Peter
dc.contributor.authorBasak, Nazh
dc.contributor.authorGasser, Thomas
dc.contributor.authorSimon-Sanchez, Javier
dc.date.accessioned2021-03-04T14:37:21Z
dc.date.available2021-03-04T14:37:21Z
dc.identifier.citationHanagasi H. A. , Giri A., Kartal E., Guven G., Bilgic B., Hauser A., Emre M., Heutink P., Basak N., Gasser T., et al., "A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family", PARKINSONISM & RELATED DISORDERS, cilt.29, ss.117-120, 2016
dc.identifier.issn1353-8020
dc.identifier.othervv_1032021
dc.identifier.otherav_828141ca-b22a-4edb-8471-c0fed6cb96c0
dc.identifier.urihttp://hdl.handle.net/20.500.12627/88887
dc.identifier.urihttps://doi.org/10.1016/j.parkreldis.2016.03.001
dc.description.abstractObjective: DJ1 mutations (PARK7) are among the monogenic causes of early-onset autosomal recessive parkinsonism. Here, we report clinical and genetic findings in a family with Turkish origin carrying a new DJ1 mutation and presenting with early-onset levodopa responsive parkinsonism and signs of amyotrophic lateral sclerosis (ALS).
dc.language.isoeng
dc.subjectSağlık Bilimleri
dc.subjectNöroloji
dc.subjectDahili Tıp Bilimleri
dc.subjectTıp
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectKLİNİK NEUROLOJİ
dc.titleA novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family
dc.typeMakale
dc.relation.journalPARKINSONISM & RELATED DISORDERS
dc.contributor.departmentEberhard Karls University of Tubingen , ,
dc.identifier.volume29
dc.identifier.startpage117
dc.identifier.endpage120
dc.contributor.firstauthorID234225


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