A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
Identifieur interne : 000048 ( Main/Exploration ); précédent : 000047; suivant : 000049A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
Auteurs : Manu Sharma ; John P A. Ioannidis [États-Unis] ; Jan O. Aasly [Norvège] ; Grazia Annesi [Italie] ; Alexis Brice [France] ; Lars Bertram [Allemagne] ; Maria Bozi [Grèce] ; Maria Barcikowska [Pologne] ; David Crosiers [Belgique] ; Carl E. Clarke [Royaume-Uni] ; Maurizio F. Facheris ; Matthew Farrer [Canada] ; Gaetan Garraux ; Suzana Gispert [Allemagne] ; Georg Auburger ; Carles Vilari O-Güell [Canada] ; Georgios M. Hadjigeorgiou [Grèce] ; Andrew A. Hicks ; Nobutaka Hattori [Japon] ; Beom S. Jeon [Corée du Sud] ; Zygmunt Jamrozik [Pologne] ; Anna Krygowska-Wajs [Pologne] ; Suzanne Lesage [France] ; Christina M. Lill [Grèce, Allemagne] ; Juei-Jueng Lin [Taïwan] ; Timothy Lynch [Irlande (pays)] ; Peter Lichtner [Allemagne] ; Anthony E. Lang [Canada] ; Cecile Libioulle [Canada] ; Miho Murata [Japon] ; Vincent Mok [Hong Kong] ; Barbara Jasinska-Myga [Pologne] ; George D. Mellick [Australie] ; Karen E. Morrison [Royaume-Uni] ; Thomas Meitnger [Allemagne] ; Alexander Zimprich [Autriche] ; Grzegorz Opala [Allemagne] ; Peter P. Pramstaller ; Irene Pichler ; Sung Sup Park [Allemagne] ; Aldo Quattrone [Italie] ; Ekaterina Rogaeva [Canada] ; Owen A. Ross [États-Unis] ; Leonidas Stefanis [Grèce] ; Joanne D. Stockton [Royaume-Uni] ; Wataru Satake [Japon] ; Peter A. Silburn [Australie] ; Tim M. Strom [Allemagne, Canada] ; Jessie Theuns [Belgique] ; Eng- King Tan [Singapour] ; Tatsushi Toda [Japon] ; Hiroyuki Tomiyama [Japon] ; Ryan J. Uitti [États-Unis] ; Christine Van Broeckhoven [Belgique] ; Karin Wirdefeldt ; Zbigniew Wszolek [États-Unis] ; Georgia Xiromerisiou [Grèce] ; Harumi S. Yomono [Japon] ; Kuo-Chu Yueh [Taïwan] ; Yi Zhao ; Thomas Gasser ; Demetrius Maraganore [États-Unis] ; Rejko KrügerSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 2012-11.
Abstract
Background 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 multi-center 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 Parkinson disease in different populations worldwide.
Url:
DOI: 10.1136/jmedgenet-2012-101155
Affiliations:
- Allemagne, Australie, Autriche, Belgique, Canada, Corée du Sud, France, Grèce, Hong Kong, Irlande (pays), Italie, Japon, Norvège, Pologne, Royaume-Uni, Singapour, Taïwan, États-Unis
- Angleterre, Bavière, Berlin, Californie, District de Haute-Bavière, Floride, Illinois, Midlands de l'Ouest, Ontario, Province d'Anvers, Trøndelag, Vienne (Autriche)
- Anvers, Berlin, Birmingham, Chicago, Munich, Paris, Séoul, Tokyo, Toronto, Trondheim, Vienne (Autriche)
- Université d'Anvers, Université de Birmingham, Université de Toronto, Université technique de Munich
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Yomono</name></author><author><name sortKey="Yueh, Kuo Chu" sort="Yueh, Kuo Chu" uniqKey="Yueh K" first="Kuo-Chu" last="Yueh">Kuo-Chu Yueh</name></author><author><name sortKey="Zhao, Yi" sort="Zhao, Yi" uniqKey="Zhao Y" first="Yi" last="Zhao">Yi Zhao</name></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name></author><author><name sortKey="Maraganore, Demetrius" sort="Maraganore, Demetrius" uniqKey="Maraganore D" first="Demetrius" last="Maraganore">Demetrius Maraganore</name></author><author><name sortKey="Kruger, Rejko" sort="Kruger, Rejko" uniqKey="Kruger R" first="Rejko" last="Krüger">Rejko Krüger</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:1E80C3110D21541A237742CD339DD00EB1BB056D</idno><date when="2012" year="2012">2012</date><idno type="doi">10.1136/jmedgenet-2012-101155</idno><idno type="url">https://api.istex.fr/document/1E80C3110D21541A237742CD339DD00EB1BB056D/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">001339</idno><idno type="wicri:Area/Main/Curation">001131</idno><idno type="wicri:Area/Main/Exploration">000048</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a">A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants</title><author><name sortKey="Sharma, Manu" sort="Sharma, Manu" uniqKey="Sharma M" first="Manu" last="Sharma">Manu Sharma</name><affiliation><wicri:noCountry code="subField">Tübingen</wicri:noCountry></affiliation></author><author><name sortKey="Ioannidis, John P A" sort="Ioannidis, John P A" uniqKey="Ioannidis J" first="John P A" last="Ioannidis">John P A. Ioannidis</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Stanford Prevention Research Center, Department of Medicine and Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O" last="Aasly">Jan O. Aasly</name><affiliation wicri:level="3"><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Neurology, St Olavs Hospital and NTNU Trondheim, Trondheim</wicri:regionArea><placeName><settlement type="city">Trondheim</settlement><region type="région" nuts="2">Trøndelag</region></placeName></affiliation></author><author><name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurology, Department of Medical Sciences , University Magna Graecia, Catanzaro; Neuroimaging Research Unit, National Research Council, Catanzaro</wicri:regionArea><wicri:noRegion>Catanzaro</wicri:noRegion></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><wicri:noCountry code="subField">alpêtriére Hospital</wicri:noCountry></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Cnrs, UMR 7225, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Hôpital Pitié-Salpêtiére, Department of Genetics and Cytogenetics, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Bertram, Lars" sort="Bertram, Lars" uniqKey="Bertram L" first="Lars" last="Bertram">Lars Bertram</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Neuropsychiatric Genetics Group, Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Bozi, Maria" sort="Bozi, Maria" uniqKey="Bozi M" first="Maria" last="Bozi">Maria Bozi</name><affiliation wicri:level="1"><country xml:lang="fr">Grèce</country><wicri:regionArea>General Hospital of Syros, Syros</wicri:regionArea><wicri:noRegion>Syros</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Grèce</country><wicri:regionArea>2nd Neurology Clinic, University of Athens, ‘Attikon’ Hospital, Athens</wicri:regionArea><wicri:noRegion>Athens</wicri:noRegion></affiliation></author><author><name sortKey="Barcikowska, Maria" sort="Barcikowska, Maria" uniqKey="Barcikowska M" first="Maria" last="Barcikowska">Maria Barcikowska</name><affiliation wicri:level="1"><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Neurodegenerative Disorders, Medical Research Centre, Polish Academy of Sciences, Warsaw</wicri:regionArea><wicri:noRegion>Warsaw</wicri:noRegion></affiliation></author><author><name sortKey="Crosiers, David" sort="Crosiers, David" uniqKey="Crosiers D" first="David" last="Crosiers">David Crosiers</name><affiliation wicri:level="1"><country xml:lang="fr">Belgique</country><wicri:regionArea>Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp</wicri:regionArea><wicri:noRegion>Antwerp</wicri:noRegion></affiliation><affiliation wicri:level="4"><country xml:lang="fr">Belgique</country><wicri:regionArea>Institute Born-Bunge, University of Antwerp, Antwerp</wicri:regionArea><orgName type="university">Université d'Anvers</orgName><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Neurology, Antwerp University Hospital, Antwerp</wicri:regionArea><wicri:noRegion>Antwerp</wicri:noRegion></affiliation></author><author><name sortKey="Clarke, Carl E" sort="Clarke, Carl E" uniqKey="Clarke C" first="Carl E" last="Clarke">Carl E. Clarke</name><affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, City Hospital, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName><orgName type="university">Université de Birmingham</orgName></affiliation></author><author><name sortKey="Facheris, Maurizio F" sort="Facheris, Maurizio F" uniqKey="Facheris M" first="Maurizio F" last="Facheris">Maurizio F. Facheris</name><affiliation><wicri:noCountry code="subField">German</wicri:noCountry></affiliation></author><author><name sortKey="Farrer, Matthew" sort="Farrer, Matthew" uniqKey="Farrer M" first="Matthew" last="Farrer">Matthew Farrer</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia</wicri:regionArea><wicri:noRegion>British Columbia</wicri:noRegion></affiliation></author><author><name sortKey="Garraux, Gaetan" sort="Garraux, Gaetan" uniqKey="Garraux G" first="Gaetan" last="Garraux">Gaetan Garraux</name><affiliation><wicri:noCountry code="subField">Itlay</wicri:noCountry></affiliation></author><author><name sortKey="Gispert, Suzana" sort="Gispert, Suzana" uniqKey="Gispert S" first="Suzana" last="Gispert">Suzana Gispert</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Goethe University Frankfurt am Main, Frankfurt</wicri:regionArea><wicri:noRegion>Frankfurt</wicri:noRegion><wicri:noRegion>Frankfurt</wicri:noRegion></affiliation></author><author><name sortKey="Auburger, Georg" sort="Auburger, Georg" uniqKey="Auburger G" first="Georg" last="Auburger">Georg Auburger</name><affiliation><wicri:noCountry code="subField">Itlay</wicri:noCountry></affiliation></author><author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia</wicri:regionArea><wicri:noRegion>British Columbia</wicri:noRegion></affiliation></author><author><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M" last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name><affiliation wicri:level="1"><country xml:lang="fr">Grèce</country><wicri:regionArea>Department of Neurology, University of Thessaly and Institute of Biomedical Research and Technology, CERETETH, Larissa</wicri:regionArea><wicri:noRegion>Larissa</wicri:noRegion></affiliation></author><author><name sortKey="Hicks, Andrew A" sort="Hicks, Andrew A" uniqKey="Hicks A" first="Andrew A" last="Hicks">Andrew A. Hicks</name><affiliation><wicri:noCountry code="subField">German</wicri:noCountry></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Jeon, Beom S" sort="Jeon, Beom S" uniqKey="Jeon B" first="Beom S" last="Jeon">Beom S. Jeon</name><affiliation wicri:level="3"><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Department of Neurology, Seoul National University Hospital, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Jamrozik, Zygmunt" sort="Jamrozik, Zygmunt" uniqKey="Jamrozik Z" first="Zygmunt" last="Jamrozik">Zygmunt Jamrozik</name><affiliation wicri:level="1"><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Neurology, Medical University of Warsaw, Warsaw</wicri:regionArea><wicri:noRegion>Warsaw</wicri:noRegion></affiliation></author><author><name sortKey="Krygowska Wajs, Anna" sort="Krygowska Wajs, Anna" uniqKey="Krygowska Wajs A" first="Anna" last="Krygowska-Wajs">Anna Krygowska-Wajs</name><affiliation wicri:level="1"><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Neurology, Jagiellonian University, Krakow</wicri:regionArea><wicri:noRegion>Krakow</wicri:noRegion></affiliation></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation><wicri:noCountry code="subField">alpêtriére Hospital</wicri:noCountry></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Cnrs, UMR 7225, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Hôpital Pitié-Salpêtiére, Department of Genetics and Cytogenetics, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Lill, Christina M" sort="Lill, Christina M" uniqKey="Lill C" first="Christina M" last="Lill">Christina M. Lill</name><affiliation wicri:level="1"><country xml:lang="fr">Grèce</country><wicri:regionArea>General Hospital of Syros, Syros</wicri:regionArea><wicri:noRegion>Syros</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Johannes Gutenberg University, Mainz</wicri:regionArea><wicri:noRegion>Mainz</wicri:noRegion><wicri:noRegion>Mainz</wicri:noRegion></affiliation></author><author><name sortKey="Lin, Juei Jueng" sort="Lin, Juei Jueng" uniqKey="Lin J" first="Juei-Jueng" last="Lin">Juei-Jueng Lin</name><affiliation wicri:level="1"><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, Chushang Show-Chwan Hospital, Nantou and Chung-Shan Medical University Hospital, Taichung</wicri:regionArea><wicri:noRegion>Taichung</wicri:noRegion></affiliation></author><author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name><affiliation wicri:level="1"><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>The Dublin Neurological Institute at the Mater Misericordiae University Hospital, and Conway Institute, University College Dublin, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Helmholtz Zentrum München, German Research Centre for Environmental Health (Gmbh), Neuherberg</wicri:regionArea><wicri:noRegion>Neuherberg</wicri:noRegion><wicri:noRegion>Neuherberg</wicri:noRegion></affiliation></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E" last="Lang">Anthony E. Lang</name><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Movement Disorders Centre, and the Edmond J Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Toronto</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Libioulle, Cecile" sort="Libioulle, Cecile" uniqKey="Libioulle C" first="Cecile" last="Libioulle">Cecile Libioulle</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia</wicri:regionArea><wicri:noRegion>British Columbia</wicri:noRegion></affiliation></author><author><name sortKey="Murata, Miho" sort="Murata, Miho" uniqKey="Murata M" first="Miho" last="Murata">Miho Murata</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, National Center Hospital of Neurology and Psychiatry, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Mok, Vincent" sort="Mok, Vincent" uniqKey="Mok V" first="Vincent" last="Mok">Vincent Mok</name><affiliation wicri:level="1"><country xml:lang="fr">Hong Kong</country><wicri:regionArea>Department of Medicine and Therapeutics, Prince of Wales Hospital,The Chinese University of Hong Kong, Shatin</wicri:regionArea><wicri:noRegion>Shatin</wicri:noRegion></affiliation></author><author><name sortKey="Jasinska Myga, Barbara" sort="Jasinska Myga, Barbara" uniqKey="Jasinska Myga B" first="Barbara" last="Jasinska-Myga">Barbara Jasinska-Myga</name><affiliation wicri:level="1"><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Neurology, Medical University of Silesia, Katowice</wicri:regionArea><wicri:noRegion>Katowice</wicri:noRegion></affiliation></author><author><name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D" last="Mellick">George D. Mellick</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Eskitis Institute for Cell and Molecular Therapies, Griffith University, Brisbane</wicri:regionArea><wicri:noRegion>Brisbane</wicri:noRegion></affiliation></author><author><name sortKey="Morrison, Karen E" sort="Morrison, Karen E" uniqKey="Morrison K" first="Karen E" last="Morrison">Karen E. Morrison</name><affiliation><wicri:noCountry code="subField">German</wicri:noCountry></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurosciences Department, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Meitnger, Thomas" sort="Meitnger, Thomas" uniqKey="Meitnger T" first="Thomas" last="Meitnger">Thomas Meitnger</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>German Research Center for Environmental Health, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg</wicri:regionArea><wicri:noRegion>Neuherberg</wicri:noRegion><wicri:noRegion>Neuherberg</wicri:noRegion></affiliation><affiliation wicri:level="4"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Technische Universität München, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName><orgName type="university">Université technique de Munich</orgName></affiliation></author><author><name sortKey="Zimprich, Alexander" sort="Zimprich, Alexander" uniqKey="Zimprich A" first="Alexander" last="Zimprich">Alexander Zimprich</name><affiliation wicri:level="3"><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Neurology, Medizinische Universität Wien, Vienna</wicri:regionArea><placeName><settlement type="city">Vienne (Autriche)</settlement><region nuts="2" type="province">Vienne (Autriche)</region></placeName></affiliation></author><author><name sortKey="Opala, Grzegorz" sort="Opala, Grzegorz" uniqKey="Opala G" first="Grzegorz" last="Opala">Grzegorz Opala</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>German Research Center for Environmental Health, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg</wicri:regionArea><wicri:noRegion>Neuherberg</wicri:noRegion><wicri:noRegion>Neuherberg</wicri:noRegion></affiliation></author><author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P" last="Pramstaller">Peter P. Pramstaller</name><affiliation><wicri:noCountry code="subField">Itlay</wicri:noCountry></affiliation></author><author><name sortKey="Pichler, Irene" sort="Pichler, Irene" uniqKey="Pichler I" first="Irene" last="Pichler">Irene Pichler</name><affiliation><wicri:noCountry code="subField">Itlay</wicri:noCountry></affiliation></author><author><name sortKey="Park, Sung Sup" sort="Park, Sung Sup" uniqKey="Park S" first="Sung Sup" last="Park">Sung Sup Park</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Johannes Gutenberg University, Mainz</wicri:regionArea><wicri:noRegion>Mainz</wicri:noRegion><wicri:noRegion>Mainz</wicri:noRegion></affiliation></author><author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurology, Department of Medical Sciences , University Magna Graecia, Catanzaro; Neuroimaging Research Unit, National Research Council, Catanzaro</wicri:regionArea><wicri:noRegion>Catanzaro</wicri:noRegion></affiliation></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Department of Neuroscience, Mayo Clinic, Jacksonville</wicri:cityArea></affiliation></author><author><name sortKey="Stefanis, Leonidas" sort="Stefanis, Leonidas" uniqKey="Stefanis L" first="Leonidas" last="Stefanis">Leonidas Stefanis</name><affiliation wicri:level="1"><country xml:lang="fr">Grèce</country><wicri:regionArea>2nd Neurology Clinic, University of Athens, ‘Attikon’ Hospital, Athens</wicri:regionArea><wicri:noRegion>Athens</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Grèce</country><wicri:regionArea>Divisions of Basic Neurosciences & Cell Biology, Biomedical Research Foundation of Academy of Athens, Athens</wicri:regionArea><wicri:noRegion>Athens</wicri:noRegion></affiliation></author><author><name sortKey="Stockton, Joanne D" sort="Stockton, Joanne D" uniqKey="Stockton J" first="Joanne D" last="Stockton">Joanne D. Stockton</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurosciences Department, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Satake, Wataru" sort="Satake, Wataru" uniqKey="Satake W" first="Wataru" last="Satake">Wataru Satake</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe</wicri:regionArea><wicri:noRegion>Kobe</wicri:noRegion></affiliation></author><author><name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A" last="Silburn">Peter A. Silburn</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>University of Queensland Centre for Clinical Research, Herston</wicri:regionArea><wicri:noRegion>Herston</wicri:noRegion></affiliation></author><author><name sortKey="Strom, Tim M" sort="Strom, Tim M" uniqKey="Strom T" first="Tim M" last="Strom">Tim M. Strom</name><affiliation wicri:level="4"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Technische Universität München, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName><orgName type="university">Université technique de Munich</orgName></affiliation><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Theuns, Jessie" sort="Theuns, Jessie" uniqKey="Theuns J" first="Jessie" last="Theuns">Jessie Theuns</name><affiliation wicri:level="4"><country xml:lang="fr">Belgique</country><wicri:regionArea>Institute Born-Bunge, University of Antwerp, Antwerp</wicri:regionArea><orgName type="university">Université d'Anvers</orgName><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Neurology, Antwerp University Hospital, Antwerp</wicri:regionArea><wicri:noRegion>Antwerp</wicri:noRegion></affiliation></author><author><name sortKey="Tan, Eng King" sort="Tan, Eng King" uniqKey="Tan E" first="Eng- King" last="Tan">Eng- King Tan</name><affiliation wicri:level="1"><country xml:lang="fr">Singapour</country><wicri:regionArea>Department of Neurology, Singapore General Hospital, National Neuroscience Institute</wicri:regionArea><wicri:noRegion>National Neuroscience Institute</wicri:noRegion></affiliation></author><author><name sortKey="Toda, Tatsushi" sort="Toda, Tatsushi" uniqKey="Toda T" first="Tatsushi" last="Toda">Tatsushi Toda</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe</wicri:regionArea><wicri:noRegion>Kobe</wicri:noRegion></affiliation></author><author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J" last="Uitti">Ryan J. Uitti</name><affiliation wicri:level="1"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic Jacksonville</wicri:regionArea><wicri:noRegion>Mayo Clinic Jacksonville</wicri:noRegion></affiliation></author><author><name sortKey="Van Broeckhoven, Christine" sort="Van Broeckhoven, Christine" uniqKey="Van Broeckhoven C" first="Christine" last="Van Broeckhoven">Christine Van Broeckhoven</name><affiliation wicri:level="4"><country xml:lang="fr">Belgique</country><wicri:regionArea>Institute Born-Bunge, University of Antwerp, Antwerp</wicri:regionArea><orgName type="university">Université d'Anvers</orgName><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Neurology, Antwerp University Hospital, Antwerp</wicri:regionArea><wicri:noRegion>Antwerp</wicri:noRegion></affiliation></author><author><name sortKey="Wirdefeldt, Karin" sort="Wirdefeldt, Karin" uniqKey="Wirdefeldt K" first="Karin" last="Wirdefeldt">Karin Wirdefeldt</name><affiliation><wicri:noCountry code="subField">Karolinska Institutet</wicri:noCountry></affiliation></author><author><name sortKey="Wszolek, Zbigniew" sort="Wszolek, Zbigniew" uniqKey="Wszolek Z" first="Zbigniew" last="Wszolek">Zbigniew Wszolek</name><affiliation wicri:level="1"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic Jacksonville</wicri:regionArea><wicri:noRegion>Mayo Clinic Jacksonville</wicri:noRegion></affiliation></author><author><name sortKey="Xiromerisiou, Georgia" sort="Xiromerisiou, Georgia" uniqKey="Xiromerisiou G" first="Georgia" last="Xiromerisiou">Georgia Xiromerisiou</name><affiliation wicri:level="1"><country xml:lang="fr">Grèce</country><wicri:regionArea>Department of Neurology, University of Thessaly and Institute of Biomedical Research and Technology, CERETETH, Larissa</wicri:regionArea><wicri:noRegion>Larissa</wicri:noRegion></affiliation></author><author><name sortKey="Yomono, Harumi S" sort="Yomono, Harumi S" uniqKey="Yomono H" first="Harumi S" last="Yomono">Harumi S. Yomono</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, National Hospital Organization Tokyo Hospital, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Yueh, Kuo Chu" sort="Yueh, Kuo Chu" uniqKey="Yueh K" first="Kuo-Chu" last="Yueh">Kuo-Chu Yueh</name><affiliation wicri:level="1"><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, Chushang Show-Chwan Hospital, Nantou and Chung-Shan Medical University Hospital, Taichung</wicri:regionArea><wicri:noRegion>Taichung</wicri:noRegion></affiliation></author><author><name sortKey="Zhao, Yi" sort="Zhao, Yi" uniqKey="Zhao Y" first="Yi" last="Zhao">Yi Zhao</name></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><affiliation><wicri:noCountry code="subField">Tübingen</wicri:noCountry></affiliation></author><author><name sortKey="Maraganore, Demetrius" sort="Maraganore, Demetrius" uniqKey="Maraganore D" first="Demetrius" last="Maraganore">Demetrius Maraganore</name><affiliation wicri:level="3"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, NorthShore University HealthSystem, Chicago</wicri:regionArea><placeName><settlement type="city">Chicago</settlement><region type="state">Illinois</region></placeName></affiliation></author><author><name sortKey="Kruger, Rejko" sort="Kruger, Rejko" uniqKey="Kruger R" first="Rejko" last="Krüger">Rejko Krüger</name><affiliation><wicri:noCountry code="subField">Tübingen</wicri:noCountry></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Medical Genetics</title><title level="j" type="abbrev">J Med Genet</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2012-11">2012-11</date><biblScope unit="volume">49</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="721">721</biblScope></imprint><idno type="ISSN">0022-2593</idno></series><idno type="istex">1E80C3110D21541A237742CD339DD00EB1BB056D</idno><idno type="DOI">10.1136/jmedgenet-2012-101155</idno><idno type="href">jmedgenet-49-721.pdf</idno><idno type="ArticleID">jmedgenet-2012-101155</idno><idno type="local">jmedgenet;49/11/721</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-2593</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">Background 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 multi-center 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 Parkinson disease in different populations worldwide.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Autriche</li><li>Belgique</li><li>Canada</li><li>Corée du Sud</li><li>France</li><li>Grèce</li><li>Hong Kong</li><li>Irlande (pays)</li><li>Italie</li><li>Japon</li><li>Norvège</li><li>Pologne</li><li>Royaume-Uni</li><li>Singapour</li><li>Taïwan</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Bavière</li><li>Berlin</li><li>Californie</li><li>District de Haute-Bavière</li><li>Floride</li><li>Illinois</li><li>Midlands de l'Ouest</li><li>Ontario</li><li>Province d'Anvers</li><li>Trøndelag</li><li>Vienne (Autriche)</li></region><settlement><li>Anvers</li><li>Berlin</li><li>Birmingham</li><li>Chicago</li><li>Munich</li><li>Paris</li><li>Séoul</li><li>Tokyo</li><li>Toronto</li><li>Trondheim</li><li>Vienne (Autriche)</li></settlement><orgName><li>Université d'Anvers</li><li>Université de Birmingham</li><li>Université de Toronto</li><li>Université technique de Munich</li></orgName></list><tree><noCountry><name sortKey="Auburger, Georg" sort="Auburger, Georg" uniqKey="Auburger G" first="Georg" last="Auburger">Georg Auburger</name><name sortKey="Facheris, Maurizio F" sort="Facheris, Maurizio F" uniqKey="Facheris M" first="Maurizio F" last="Facheris">Maurizio F. Facheris</name><name sortKey="Garraux, Gaetan" sort="Garraux, Gaetan" uniqKey="Garraux G" first="Gaetan" last="Garraux">Gaetan Garraux</name><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><name sortKey="Hicks, Andrew A" sort="Hicks, Andrew A" uniqKey="Hicks A" first="Andrew A" last="Hicks">Andrew A. Hicks</name><name sortKey="Kruger, Rejko" sort="Kruger, Rejko" uniqKey="Kruger R" first="Rejko" last="Krüger">Rejko Krüger</name><name sortKey="Pichler, Irene" sort="Pichler, Irene" uniqKey="Pichler I" first="Irene" last="Pichler">Irene Pichler</name><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P" last="Pramstaller">Peter P. Pramstaller</name><name sortKey="Sharma, Manu" sort="Sharma, Manu" uniqKey="Sharma M" first="Manu" last="Sharma">Manu Sharma</name><name sortKey="Wirdefeldt, Karin" sort="Wirdefeldt, Karin" uniqKey="Wirdefeldt K" first="Karin" last="Wirdefeldt">Karin Wirdefeldt</name><name sortKey="Zhao, Yi" sort="Zhao, Yi" uniqKey="Zhao Y" first="Yi" last="Zhao">Yi Zhao</name></noCountry><country name="États-Unis"><region name="Californie"><name sortKey="Ioannidis, John P A" sort="Ioannidis, John P A" uniqKey="Ioannidis J" first="John P A" last="Ioannidis">John P A. Ioannidis</name></region><name sortKey="Maraganore, Demetrius" sort="Maraganore, Demetrius" uniqKey="Maraganore D" first="Demetrius" last="Maraganore">Demetrius Maraganore</name><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J" last="Uitti">Ryan J. Uitti</name><name sortKey="Wszolek, Zbigniew" sort="Wszolek, Zbigniew" uniqKey="Wszolek Z" first="Zbigniew" last="Wszolek">Zbigniew Wszolek</name></country><country name="Norvège"><region name="Trøndelag"><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O" last="Aasly">Jan O. Aasly</name></region></country><country name="Italie"><noRegion><name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name></noRegion><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name></country><country name="France"><noRegion><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></noRegion><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name></country><country name="Allemagne"><region name="Berlin"><name sortKey="Bertram, Lars" sort="Bertram, Lars" uniqKey="Bertram L" first="Lars" last="Bertram">Lars Bertram</name></region><name sortKey="Gispert, Suzana" sort="Gispert, Suzana" uniqKey="Gispert S" first="Suzana" last="Gispert">Suzana Gispert</name><name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name><name sortKey="Lill, Christina M" sort="Lill, Christina M" uniqKey="Lill C" first="Christina M" last="Lill">Christina M. Lill</name><name sortKey="Meitnger, Thomas" sort="Meitnger, Thomas" uniqKey="Meitnger T" first="Thomas" last="Meitnger">Thomas Meitnger</name><name sortKey="Meitnger, Thomas" sort="Meitnger, Thomas" uniqKey="Meitnger T" first="Thomas" last="Meitnger">Thomas Meitnger</name><name sortKey="Opala, Grzegorz" sort="Opala, Grzegorz" uniqKey="Opala G" first="Grzegorz" last="Opala">Grzegorz Opala</name><name sortKey="Park, Sung Sup" sort="Park, Sung Sup" uniqKey="Park S" first="Sung Sup" last="Park">Sung Sup Park</name><name sortKey="Strom, Tim M" sort="Strom, Tim M" uniqKey="Strom T" first="Tim M" last="Strom">Tim M. Strom</name></country><country name="Grèce"><noRegion><name sortKey="Bozi, Maria" sort="Bozi, Maria" uniqKey="Bozi M" first="Maria" last="Bozi">Maria Bozi</name></noRegion><name sortKey="Bozi, Maria" sort="Bozi, Maria" uniqKey="Bozi M" first="Maria" last="Bozi">Maria Bozi</name><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M" last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name><name sortKey="Lill, Christina M" sort="Lill, Christina M" uniqKey="Lill C" first="Christina M" last="Lill">Christina M. Lill</name><name sortKey="Stefanis, Leonidas" sort="Stefanis, Leonidas" uniqKey="Stefanis L" first="Leonidas" last="Stefanis">Leonidas Stefanis</name><name sortKey="Stefanis, Leonidas" sort="Stefanis, Leonidas" uniqKey="Stefanis L" first="Leonidas" last="Stefanis">Leonidas Stefanis</name><name sortKey="Xiromerisiou, Georgia" sort="Xiromerisiou, Georgia" uniqKey="Xiromerisiou G" first="Georgia" last="Xiromerisiou">Georgia Xiromerisiou</name></country><country name="Pologne"><noRegion><name sortKey="Barcikowska, Maria" sort="Barcikowska, Maria" uniqKey="Barcikowska M" first="Maria" last="Barcikowska">Maria Barcikowska</name></noRegion><name sortKey="Jamrozik, Zygmunt" sort="Jamrozik, Zygmunt" uniqKey="Jamrozik Z" first="Zygmunt" last="Jamrozik">Zygmunt Jamrozik</name><name sortKey="Jasinska Myga, Barbara" sort="Jasinska Myga, Barbara" uniqKey="Jasinska Myga B" first="Barbara" last="Jasinska-Myga">Barbara Jasinska-Myga</name><name sortKey="Krygowska Wajs, Anna" sort="Krygowska Wajs, Anna" uniqKey="Krygowska Wajs A" first="Anna" last="Krygowska-Wajs">Anna Krygowska-Wajs</name></country><country name="Belgique"><noRegion><name sortKey="Crosiers, David" sort="Crosiers, David" uniqKey="Crosiers D" first="David" last="Crosiers">David Crosiers</name></noRegion><name sortKey="Crosiers, David" sort="Crosiers, David" uniqKey="Crosiers D" first="David" last="Crosiers">David Crosiers</name><name sortKey="Crosiers, David" sort="Crosiers, David" uniqKey="Crosiers D" first="David" last="Crosiers">David Crosiers</name><name sortKey="Theuns, Jessie" sort="Theuns, Jessie" uniqKey="Theuns J" first="Jessie" last="Theuns">Jessie Theuns</name><name sortKey="Theuns, Jessie" sort="Theuns, Jessie" uniqKey="Theuns J" first="Jessie" last="Theuns">Jessie Theuns</name><name sortKey="Van Broeckhoven, Christine" sort="Van Broeckhoven, Christine" uniqKey="Van Broeckhoven C" first="Christine" last="Van Broeckhoven">Christine Van Broeckhoven</name><name sortKey="Van Broeckhoven, Christine" sort="Van Broeckhoven, Christine" uniqKey="Van Broeckhoven C" first="Christine" last="Van Broeckhoven">Christine Van Broeckhoven</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Clarke, Carl E" sort="Clarke, Carl E" uniqKey="Clarke C" first="Carl E" last="Clarke">Carl E. Clarke</name></region><name sortKey="Morrison, Karen E" sort="Morrison, Karen E" uniqKey="Morrison K" first="Karen E" last="Morrison">Karen E. Morrison</name><name sortKey="Stockton, Joanne D" sort="Stockton, Joanne D" uniqKey="Stockton J" first="Joanne D" last="Stockton">Joanne D. Stockton</name></country><country name="Canada"><noRegion><name sortKey="Farrer, Matthew" sort="Farrer, Matthew" uniqKey="Farrer M" first="Matthew" last="Farrer">Matthew Farrer</name></noRegion><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E" last="Lang">Anthony E. Lang</name><name sortKey="Libioulle, Cecile" sort="Libioulle, Cecile" uniqKey="Libioulle C" first="Cecile" last="Libioulle">Cecile Libioulle</name><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><name sortKey="Strom, Tim M" sort="Strom, Tim M" uniqKey="Strom T" first="Tim M" last="Strom">Tim M. Strom</name><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name></country><country name="Japon"><noRegion><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name></noRegion><name sortKey="Murata, Miho" sort="Murata, Miho" uniqKey="Murata M" first="Miho" last="Murata">Miho Murata</name><name sortKey="Satake, Wataru" sort="Satake, Wataru" uniqKey="Satake W" first="Wataru" last="Satake">Wataru Satake</name><name sortKey="Toda, Tatsushi" sort="Toda, Tatsushi" uniqKey="Toda T" first="Tatsushi" last="Toda">Tatsushi Toda</name><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name><name sortKey="Yomono, Harumi S" sort="Yomono, Harumi S" uniqKey="Yomono H" first="Harumi S" last="Yomono">Harumi S. 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Mellick</name></noRegion><name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A" last="Silburn">Peter A. Silburn</name></country><country name="Autriche"><region name="Vienne (Autriche)"><name sortKey="Zimprich, Alexander" sort="Zimprich, Alexander" uniqKey="Zimprich A" first="Alexander" last="Zimprich">Alexander Zimprich</name></region></country><country name="Singapour"><noRegion><name sortKey="Tan, Eng King" sort="Tan, Eng King" uniqKey="Tan E" first="Eng- King" last="Tan">Eng- King Tan</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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