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dc.contributor.authorSharma, Manu
dc.contributor.authorIoannidis, John PA
dc.contributor.authorAasly, Jan O
dc.contributor.authorAnnesi, Grazia
dc.contributor.authorBrice, Alexis
dc.contributor.authorBertram, Lars
dc.contributor.authorBozi, Maria
dc.contributor.authorBarcikowska, Maria
dc.contributor.authorCrosiers, David
dc.contributor.authorClarke, Carl E
dc.contributor.authorFacheris, Maurizio F
dc.contributor.authorFarrer, Matthew
dc.contributor.authorGarraux, Gaetan
dc.contributor.authorGispert, Suzana
dc.contributor.authorAuburger, Georg
dc.contributor.authorVilarino-Guell, Carles
dc.contributor.authorHadjigeorgiou, Georgios M
dc.contributor.authorHicks, Andrew A
dc.contributor.authorHattori, Nobutaka
dc.contributor.authorJeon, Beom S
dc.contributor.authorJamrozik, Zygmunt
dc.contributor.authorKrygowska-Wajs, Anna
dc.contributor.authorLesage, Suzanne
dc.contributor.authorLill, Christina M
dc.contributor.authorLin, Juei-Jueng
dc.contributor.authorLynch, Timothy
dc.contributor.authorLichtner, Peter
dc.contributor.authorLang, Anthony E
dc.contributor.authorLibioulle, Cecile
dc.contributor.authorMurata, Miho
dc.contributor.authorMok, Vincent
dc.contributor.authorJasinska-Myga, Barbara
dc.contributor.authorMellick, George D
dc.contributor.authorMorrison, Karen E
dc.contributor.authorMeitnger, Thomas
dc.contributor.authorZimprich, Alexander
dc.contributor.authorOpala, Grzegorz
dc.contributor.authorPramstaller, Peter P
dc.contributor.authorPichler, Irene
dc.contributor.authorPark, Sung Sup
dc.contributor.authorQuattrone, Aldo
dc.contributor.authorRogaeva, Ekaterina
dc.contributor.authorRoss, Owen A
dc.contributor.authorStefanis, Leonidas
dc.contributor.authorStockton, Joanne D
dc.contributor.authorSatake, Wataru
dc.contributor.authorSilburn, Peter A
dc.contributor.authorStrom, Tim M
dc.contributor.authorTheuns, Jessie
dc.contributor.authorTan, Eng-King
dc.contributor.authorToda, Tatsushi
dc.contributor.authorTomiyama, Hiroyuki
dc.contributor.authorUitti, Ryan J
dc.contributor.authorVan Broeckhoven, Christine
dc.contributor.authorWirdefeldt, Karin
dc.contributor.authorWszolek, Zbigniew
dc.contributor.authorXiromerisiou, Georgia
dc.contributor.authorYomono, Harumi S
dc.contributor.authorYueh, Kuo-Chu
dc.contributor.authorZhao, Yi
dc.contributor.authorGasser, Thomas
dc.contributor.authorMaraganore, Demetrius
dc.contributor.authorKrueger, Rejko
dc.date.accessioned2017-05-03T14:10:41Z
dc.date.available2017-05-03T14:10:41Z
dc.date.issued2012
dc.date.modified2013-03-25T23:07:10Z
dc.identifier.issn0022-2593
dc.identifier.doi10.1136/jmedgenet-2012-101155
dc.identifier.urihttp://hdl.handle.net/10072/49854
dc.description.abstractBackground Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease . Although additional missense variants were described, their pathogenic role yet remains inconclusive. Methods and results We performed the largest multicenter study to ascertain the frequency and pathogenicity of the reported vacuolar protein sorting 35 gene variants in more than 15,000 individuals worldwide. p.Asp620Asn was detected in 5 familial and 2 sporadic PD cases and not in healthy controls, p.Leu774Met in 6 cases and 1 control, p.Gly51Ser in 3 cases and 2 controls. Overall analyses did not reveal any significant increased risk for p.Leu774Met and p.Gly51Ser in our cohort. Conclusions Our study apart from identifying the p. Asp620Asn variant in familial cases also identified it in idiopathic Parkinson disease cases, and thus provides genetic evidence for a role of p.Asp620Asn in
dc.description.peerreviewedYes
dc.description.publicationstatusYes
dc.format.extent264756 bytes
dc.format.mimetypeapplication/pdf
dc.languageEnglish
dc.language.isoeng
dc.publisherBMJ Publishing Group
dc.publisher.placeUnited Kingdom
dc.relation.ispartofstudentpublicationN
dc.relation.ispartofpagefrom721
dc.relation.ispartofpageto726
dc.relation.ispartofjournalJournal of Medical Genetics
dc.relation.ispartofvolume49
dc.rights.retentionY
dc.subject.fieldofresearchBiological sciences
dc.subject.fieldofresearchBiomedical and clinical sciences
dc.subject.fieldofresearchNeurology and neuromuscular diseases
dc.subject.fieldofresearchcode31
dc.subject.fieldofresearchcode32
dc.subject.fieldofresearchcode320905
dc.titleA multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
gro.rights.copyright© The Author(s) 2012. The attached file is reproduced here in accordance with the copyright policy of the publisher. For information about this journal please refer to the journal’s website or contact the authors.
gro.date.issued2012
gro.hasfulltextFull Text
gro.griffith.authorMellick, George


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