Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
Identifieur interne : 001971 ( Ncbi/Checkpoint ); précédent : 001970; suivant : 001972Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
Auteurs : Suzanne Lesage [France] ; Valérie Drouet [France] ; Elisa Majounie [États-Unis] ; Vincent Deramecourt [France] ; Maxime Jacoupy [France] ; Aude Nicolas [France] ; Florence Cormier-Dequaire [France] ; Sidi Mohamed Hassoun [France] ; Claire Pujol [France] ; Sorana Ciura [France] ; Zoi Erpapazoglou [France] ; Tatiana Usenko [France] ; Claude-Alain Maurage [France] ; Mourad Sahbatou [France] ; Stefan Liebau [Allemagne] ; Jinhui Ding [États-Unis] ; Basar Bilgic [Turquie] ; Murat Emre [Turquie] ; Nihan Erginel-Unaltuna [Turquie] ; Gamze Guven [Turquie] ; François Tison [France] ; Christine Tranchant [France] ; Marie Vidailhet [France] ; Jean-Christophe Corvol [France] ; Paul Krack [France] ; Anne-Louise Leutenegger [France] ; Michael A. Nalls [États-Unis] ; Dena G. Hernandez [États-Unis] ; Peter Heutink [Allemagne] ; J. Raphael Gibbs [États-Unis] ; John Hardy [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni] ; Thomas Gasser [Allemagne] ; Alexandra Durr [France] ; Jean-François Deleuze [France] ; Meriem Tazir [Algérie] ; Alain Destée [France] ; Ebba Lohmann [Turquie, Allemagne] ; Edor Kabashi [France] ; Andrew Singleton [États-Unis] ; Olga Corti [France] ; Alexis Brice [France]Source :
- American Journal of Human Genetics [ 0002-9297 ] ; 2016.
English descriptors
- KwdEn :
- Adult, Aged, Animals, COS Cells, Case-Control Studies, Consanguinity, Female, Gene Silencing, Genetic Heterogeneity, HEK293 Cells, Heterozygote, Homozygote, Humans, Male, Middle Aged, Mitochondrial Degradation (genetics), Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (genetics), Pedigree, Phenotype, Protein Kinases (genetics), Protein Kinases (metabolism), Proteins (genetics), Proteins (metabolism), Reproducibility of Results, Turkey, Ubiquitin-Protein Ligases (genetics), Ubiquitin-Protein Ligases (metabolism).
- MESH :
- chemical , genetics : Protein Kinases, Proteins, Ubiquitin-Protein Ligases.
- diagnosis : Parkinsonian Disorders.
- genetics : Mitochondrial Degradation, Parkinsonian Disorders.
- chemical , metabolism : Protein Kinases, Proteins, Ubiquitin-Protein Ligases.
- Adult, Aged, Animals, COS Cells, Case-Control Studies, Consanguinity, Female, Gene Silencing, Genetic Heterogeneity, HEK293 Cells, Heterozygote, Homozygote, Humans, Male, Middle Aged, Pedigree, Phenotype, Reproducibility of Results, Turkey.
Abstract
Autosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50% of autosomal-recessive early-onset forms of Parkinson disease (PD) remain to be elucidated. Homozygozity mapping and exome sequencing in 62 isolated individuals with early-onset parkinsonism and confirmed consanguinity followed by data mining in the exomes of 1,348 PD-affected individuals identified, in three isolated subjects, homozygous or compound heterozygous truncating mutations in
Url:
DOI: 10.1016/j.ajhg.2016.01.014
PubMed: 26942284
PubMed Central: 4800038
Affiliations:
- Algérie, Allemagne, France, Royaume-Uni, Turquie, États-Unis
- Alsace (région administrative), Aquitaine, Auvergne-Rhône-Alpes, Bade-Wurtemberg, District de Tübingen, Grand Est, Hauts-de-France, Maryland, Nord-Pas-de-Calais, Nouvelle-Aquitaine, Rhône-Alpes, Wilaya d'Alger, Île-de-France
- Alger, Bordeaux, Evry, Grenoble, Lille, Paris, Strasbourg, Tübingen
- Université Lille 2, Université Lille Nord de France
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PMC:4800038Le document en format XML
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<author><name sortKey="Maurage, Claude Alain" sort="Maurage, Claude Alain" uniqKey="Maurage C" first="Claude-Alain" last="Maurage">Claude-Alain Maurage</name>
<affiliation wicri:level="3"><nlm:aff id="aff6">Department of Histology and Pathology, University of Lille Nord de France, Lille University Hospital, 59000 Lille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Histology and Pathology, University of Lille Nord de France, Lille University Hospital, 59000 Lille</wicri:regionArea>
<placeName><region type="region" nuts="2">Hauts-de-France</region>
<region type="old region" nuts="2">Nord-Pas-de-Calais</region>
<settlement type="city">Lille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sahbatou, Mourad" sort="Sahbatou, Mourad" uniqKey="Sahbatou M" first="Mourad" last="Sahbatou">Mourad Sahbatou</name>
<affiliation wicri:level="3"><nlm:aff id="aff8">Fondation Jean Dausset-CEPH, 75010 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Fondation Jean Dausset-CEPH, 75010 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Liebau, Stefan" sort="Liebau, Stefan" uniqKey="Liebau S" first="Stefan" last="Liebau">Stefan Liebau</name>
<affiliation wicri:level="3"><nlm:aff id="aff9">Institute of Neuroanatomy, Eberhard Karls University Tübingen, 72074 Tübingen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neuroanatomy, Eberhard Karls University Tübingen, 72074 Tübingen</wicri:regionArea>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Tübingen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ding, Jinhui" sort="Ding, Jinhui" uniqKey="Ding J" first="Jinhui" last="Ding">Jinhui Ding</name>
<affiliation wicri:level="2"><nlm:aff id="aff5">Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bilgic, Basar" sort="Bilgic, Basar" uniqKey="Bilgic B" first="Basar" last="Bilgic">Basar Bilgic</name>
<affiliation wicri:level="1"><nlm:aff id="aff10">Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul</wicri:regionArea>
<wicri:noRegion>34390 Istanbul</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Emre, Murat" sort="Emre, Murat" uniqKey="Emre M" first="Murat" last="Emre">Murat Emre</name>
<affiliation wicri:level="1"><nlm:aff id="aff10">Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul</wicri:regionArea>
<wicri:noRegion>34390 Istanbul</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Erginel Unaltuna, Nihan" sort="Erginel Unaltuna, Nihan" uniqKey="Erginel Unaltuna N" first="Nihan" last="Erginel-Unaltuna">Nihan Erginel-Unaltuna</name>
<affiliation wicri:level="1"><nlm:aff id="aff11">Department of Genetics, Institute for Experimental Medicine, Istanbul University, 34390 Istanbul, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Department of Genetics, Institute for Experimental Medicine, Istanbul University, 34390 Istanbul</wicri:regionArea>
<wicri:noRegion>34390 Istanbul</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Guven, Gamze" sort="Guven, Gamze" uniqKey="Guven G" first="Gamze" last="Guven">Gamze Guven</name>
<affiliation wicri:level="1"><nlm:aff id="aff11">Department of Genetics, Institute for Experimental Medicine, Istanbul University, 34390 Istanbul, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Department of Genetics, Institute for Experimental Medicine, Istanbul University, 34390 Istanbul</wicri:regionArea>
<wicri:noRegion>34390 Istanbul</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name>
<affiliation wicri:level="3"><nlm:aff id="aff12">Institut des Maladies Neurodégénératives, Université de Bordeaux et CHU de Bordeaux, 33000 Bordeaux, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut des Maladies Neurodégénératives, Université de Bordeaux et CHU de Bordeaux, 33000 Bordeaux</wicri:regionArea>
<placeName><region type="region" nuts="2">Nouvelle-Aquitaine</region>
<region type="old region" nuts="2">Aquitaine</region>
<settlement type="city">Bordeaux</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tranchant, Christine" sort="Tranchant, Christine" uniqKey="Tranchant C" first="Christine" last="Tranchant">Christine Tranchant</name>
<affiliation wicri:level="3"><nlm:aff id="aff13">Pôle Tête-Cou-CETD, Service de Neurologie, Hôpitaux Universitaires, 67000 Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pôle Tête-Cou-CETD, Service de Neurologie, Hôpitaux Universitaires, 67000 Strasbourg</wicri:regionArea>
<placeName><region type="region" nuts="2">Grand Est</region>
<region type="old region" nuts="2">Alsace (région administrative)</region>
<settlement type="city">Strasbourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 7225, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff14">Pôle des Maladies du Système Nerveux, Fédération de Neurologie, Hôpital de la Salpêtrière, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, Hôpital de la Salpêtrière, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Corvol, Jean Christophe" sort="Corvol, Jean Christophe" uniqKey="Corvol J" first="Jean-Christophe" last="Corvol">Jean-Christophe Corvol</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 7225, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff7">Centre d’Investigation Clinique Pitié Neurosciences CIC-1422, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre d’Investigation Clinique Pitié Neurosciences CIC-1422, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Krack, Paul" sort="Krack, Paul" uniqKey="Krack P" first="Paul" last="Krack">Paul Krack</name>
<affiliation wicri:level="3"><nlm:aff id="aff15">Neurology Department, CHU de Grenoble, Joseph Fourier University, and INSERM U836, 38000 Grenoble, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Neurology Department, CHU de Grenoble, Joseph Fourier University, and INSERM U836, 38000 Grenoble</wicri:regionArea>
<placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
<region type="old region" nuts="2">Rhône-Alpes</region>
<settlement type="city">Grenoble</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Leutenegger, Anne Louise" sort="Leutenegger, Anne Louise" uniqKey="Leutenegger A" first="Anne-Louise" last="Leutenegger">Anne-Louise Leutenegger</name>
<affiliation wicri:level="3"><nlm:aff id="aff16">Inserm U946, 75010 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U946, 75010 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff17">Université Paris Diderot, Institut Universitaire d’Hématologie, UMR946, 75010 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Université Paris Diderot, Institut Universitaire d’Hématologie, UMR946, 75010 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nalls, Michael A" sort="Nalls, Michael A" uniqKey="Nalls M" first="Michael A." last="Nalls">Michael A. Nalls</name>
<affiliation wicri:level="2"><nlm:aff id="aff5">Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hernandez, Dena G" sort="Hernandez, Dena G" uniqKey="Hernandez D" first="Dena G." last="Hernandez">Dena G. Hernandez</name>
<affiliation wicri:level="2"><nlm:aff id="aff5">Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name>
<affiliation wicri:level="3"><nlm:aff id="aff18">Hertie Institute for Clinical Brain Research, University of Tübingen and DZNE, German Center for Neurodegenerative Diseases, 72074 Tübingen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Hertie Institute for Clinical Brain Research, University of Tübingen and DZNE, German Center for Neurodegenerative Diseases, 72074 Tübingen</wicri:regionArea>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Tübingen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gibbs, J Raphael" sort="Gibbs, J Raphael" uniqKey="Gibbs J" first="J. Raphael" last="Gibbs">J. Raphael Gibbs</name>
<affiliation wicri:level="2"><nlm:aff id="aff5">Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<affiliation wicri:level="1"><nlm:aff id="aff19">Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG</wicri:regionArea>
<wicri:noRegion>London WC1N 3BG</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name>
<affiliation wicri:level="1"><nlm:aff id="aff19">Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG</wicri:regionArea>
<wicri:noRegion>London WC1N 3BG</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name>
<affiliation wicri:level="3"><nlm:aff id="aff18">Hertie Institute for Clinical Brain Research, University of Tübingen and DZNE, German Center for Neurodegenerative Diseases, 72074 Tübingen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Hertie Institute for Clinical Brain Research, University of Tübingen and DZNE, German Center for Neurodegenerative Diseases, 72074 Tübingen</wicri:regionArea>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Tübingen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 7225, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff20">Department of Genetics and Cytogenetics, AP-HP, Hôpital de la Salpêtrière, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Genetics and Cytogenetics, AP-HP, Hôpital de la Salpêtrière, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Deleuze, Jean Francois" sort="Deleuze, Jean Francois" uniqKey="Deleuze J" first="Jean-François" last="Deleuze">Jean-François Deleuze</name>
<affiliation wicri:level="3"><nlm:aff id="aff21">Commissariat à l’Energie Atomique, Institut Génomique, Centre National de Génotypage, 91000 Evry, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Commissariat à l’Energie Atomique, Institut Génomique, Centre National de Génotypage, 91000 Evry</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Evry</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tazir, Meriem" sort="Tazir, Meriem" uniqKey="Tazir M" first="Meriem" last="Tazir">Meriem Tazir</name>
<affiliation wicri:level="1"><nlm:aff id="aff22">Service de Neurologie CHU Mustapha, 16000 Alger, Algérie</nlm:aff>
<country xml:lang="fr">Algérie</country>
<wicri:regionArea>Service de Neurologie CHU Mustapha, 16000 Alger</wicri:regionArea>
<placeName><settlement type="city">Alger</settlement>
<region nuts="2">Wilaya d'Alger</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name>
<affiliation wicri:level="3"><nlm:aff id="aff23">Movement Disorders Unit, Lille University, Inserm U837, Lille University Hospital, 59000 Lille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Movement Disorders Unit, Lille University, Inserm U837, Lille University Hospital, 59000 Lille</wicri:regionArea>
<placeName><region type="region" nuts="2">Hauts-de-France</region>
<region type="old region" nuts="2">Nord-Pas-de-Calais</region>
<settlement type="city">Lille</settlement>
</placeName>
<placeName><settlement type="city">Lille</settlement>
<region type="region" nuts="2">Hauts-de-France</region>
<region type="old region" nuts="2">Nord-Pas-de-Calais</region>
</placeName>
<orgName type="university" n="3">Université Lille 2</orgName>
<orgName type="institution" wicri:auto="newGroup">Université Lille Nord de France</orgName>
</affiliation>
</author>
<author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name>
<affiliation wicri:level="1"><nlm:aff id="aff10">Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul</wicri:regionArea>
<wicri:noRegion>34390 Istanbul</wicri:noRegion>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff24">Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, and DZNE, German Center for Neurodegenerative Diseases, 72076 Tübingen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, and DZNE, German Center for Neurodegenerative Diseases, 72076 Tübingen</wicri:regionArea>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Tübingen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kabashi, Edor" sort="Kabashi, Edor" uniqKey="Kabashi E" first="Edor" last="Kabashi">Edor Kabashi</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 7225, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
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<country xml:lang="fr">France</country>
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<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris</wicri:regionArea>
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</affiliation>
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<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris</wicri:regionArea>
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<wicri:regionArea>Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris</wicri:regionArea>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy</title>
<author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris</wicri:regionArea>
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<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 7225, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris</wicri:regionArea>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Drouet, Valerie" sort="Drouet, Valerie" uniqKey="Drouet V" first="Valérie" last="Drouet">Valérie Drouet</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris</wicri:regionArea>
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<affiliation wicri:level="3"><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
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<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 7225, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris</wicri:regionArea>
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</author>
<author><name sortKey="Majounie, Elisa" sort="Majounie, Elisa" uniqKey="Majounie E" first="Elisa" last="Majounie">Elisa Majounie</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
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<author><name sortKey="Deramecourt, Vincent" sort="Deramecourt, Vincent" uniqKey="Deramecourt V" first="Vincent" last="Deramecourt">Vincent Deramecourt</name>
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<wicri:regionArea>Department of Histology and Pathology, University of Lille Nord de France, Lille University Hospital, 59000 Lille</wicri:regionArea>
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<region type="old region" nuts="2">Nord-Pas-de-Calais</region>
<settlement type="city">Lille</settlement>
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<author><name sortKey="Jacoupy, Maxime" sort="Jacoupy, Maxime" uniqKey="Jacoupy M" first="Maxime" last="Jacoupy">Maxime Jacoupy</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 7225, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nicolas, Aude" sort="Nicolas, Aude" uniqKey="Nicolas A" first="Aude" last="Nicolas">Aude Nicolas</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 7225, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Cormier Dequaire, Florence" sort="Cormier Dequaire, Florence" uniqKey="Cormier Dequaire F" first="Florence" last="Cormier-Dequaire">Florence Cormier-Dequaire</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 7225, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris</wicri:regionArea>
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<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff7">Centre d’Investigation Clinique Pitié Neurosciences CIC-1422, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre d’Investigation Clinique Pitié Neurosciences CIC-1422, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hassoun, Sidi Mohamed" sort="Hassoun, Sidi Mohamed" uniqKey="Hassoun S" first="Sidi Mohamed" last="Hassoun">Sidi Mohamed Hassoun</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 7225, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pujol, Claire" sort="Pujol, Claire" uniqKey="Pujol C" first="Claire" last="Pujol">Claire Pujol</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 7225, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
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<placeName><region type="region" nuts="2">Île-de-France</region>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Ciura, Sorana" sort="Ciura, Sorana" uniqKey="Ciura S" first="Sorana" last="Ciura">Sorana Ciura</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 7225, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
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<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Erpapazoglou, Zoi" sort="Erpapazoglou, Zoi" uniqKey="Erpapazoglou Z" first="Zoi" last="Erpapazoglou">Zoi Erpapazoglou</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 7225, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Usenko, Tatiana" sort="Usenko, Tatiana" uniqKey="Usenko T" first="Tatiana" last="Usenko">Tatiana Usenko</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 7225, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Maurage, Claude Alain" sort="Maurage, Claude Alain" uniqKey="Maurage C" first="Claude-Alain" last="Maurage">Claude-Alain Maurage</name>
<affiliation wicri:level="3"><nlm:aff id="aff6">Department of Histology and Pathology, University of Lille Nord de France, Lille University Hospital, 59000 Lille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Histology and Pathology, University of Lille Nord de France, Lille University Hospital, 59000 Lille</wicri:regionArea>
<placeName><region type="region" nuts="2">Hauts-de-France</region>
<region type="old region" nuts="2">Nord-Pas-de-Calais</region>
<settlement type="city">Lille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sahbatou, Mourad" sort="Sahbatou, Mourad" uniqKey="Sahbatou M" first="Mourad" last="Sahbatou">Mourad Sahbatou</name>
<affiliation wicri:level="3"><nlm:aff id="aff8">Fondation Jean Dausset-CEPH, 75010 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Fondation Jean Dausset-CEPH, 75010 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Liebau, Stefan" sort="Liebau, Stefan" uniqKey="Liebau S" first="Stefan" last="Liebau">Stefan Liebau</name>
<affiliation wicri:level="3"><nlm:aff id="aff9">Institute of Neuroanatomy, Eberhard Karls University Tübingen, 72074 Tübingen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neuroanatomy, Eberhard Karls University Tübingen, 72074 Tübingen</wicri:regionArea>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Tübingen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ding, Jinhui" sort="Ding, Jinhui" uniqKey="Ding J" first="Jinhui" last="Ding">Jinhui Ding</name>
<affiliation wicri:level="2"><nlm:aff id="aff5">Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bilgic, Basar" sort="Bilgic, Basar" uniqKey="Bilgic B" first="Basar" last="Bilgic">Basar Bilgic</name>
<affiliation wicri:level="1"><nlm:aff id="aff10">Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul</wicri:regionArea>
<wicri:noRegion>34390 Istanbul</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Emre, Murat" sort="Emre, Murat" uniqKey="Emre M" first="Murat" last="Emre">Murat Emre</name>
<affiliation wicri:level="1"><nlm:aff id="aff10">Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul</wicri:regionArea>
<wicri:noRegion>34390 Istanbul</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Erginel Unaltuna, Nihan" sort="Erginel Unaltuna, Nihan" uniqKey="Erginel Unaltuna N" first="Nihan" last="Erginel-Unaltuna">Nihan Erginel-Unaltuna</name>
<affiliation wicri:level="1"><nlm:aff id="aff11">Department of Genetics, Institute for Experimental Medicine, Istanbul University, 34390 Istanbul, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Department of Genetics, Institute for Experimental Medicine, Istanbul University, 34390 Istanbul</wicri:regionArea>
<wicri:noRegion>34390 Istanbul</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Guven, Gamze" sort="Guven, Gamze" uniqKey="Guven G" first="Gamze" last="Guven">Gamze Guven</name>
<affiliation wicri:level="1"><nlm:aff id="aff11">Department of Genetics, Institute for Experimental Medicine, Istanbul University, 34390 Istanbul, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Department of Genetics, Institute for Experimental Medicine, Istanbul University, 34390 Istanbul</wicri:regionArea>
<wicri:noRegion>34390 Istanbul</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name>
<affiliation wicri:level="3"><nlm:aff id="aff12">Institut des Maladies Neurodégénératives, Université de Bordeaux et CHU de Bordeaux, 33000 Bordeaux, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut des Maladies Neurodégénératives, Université de Bordeaux et CHU de Bordeaux, 33000 Bordeaux</wicri:regionArea>
<placeName><region type="region" nuts="2">Nouvelle-Aquitaine</region>
<region type="old region" nuts="2">Aquitaine</region>
<settlement type="city">Bordeaux</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tranchant, Christine" sort="Tranchant, Christine" uniqKey="Tranchant C" first="Christine" last="Tranchant">Christine Tranchant</name>
<affiliation wicri:level="3"><nlm:aff id="aff13">Pôle Tête-Cou-CETD, Service de Neurologie, Hôpitaux Universitaires, 67000 Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pôle Tête-Cou-CETD, Service de Neurologie, Hôpitaux Universitaires, 67000 Strasbourg</wicri:regionArea>
<placeName><region type="region" nuts="2">Grand Est</region>
<region type="old region" nuts="2">Alsace (région administrative)</region>
<settlement type="city">Strasbourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 7225, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff14">Pôle des Maladies du Système Nerveux, Fédération de Neurologie, Hôpital de la Salpêtrière, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, Hôpital de la Salpêtrière, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Corvol, Jean Christophe" sort="Corvol, Jean Christophe" uniqKey="Corvol J" first="Jean-Christophe" last="Corvol">Jean-Christophe Corvol</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 7225, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff7">Centre d’Investigation Clinique Pitié Neurosciences CIC-1422, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre d’Investigation Clinique Pitié Neurosciences CIC-1422, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Krack, Paul" sort="Krack, Paul" uniqKey="Krack P" first="Paul" last="Krack">Paul Krack</name>
<affiliation wicri:level="3"><nlm:aff id="aff15">Neurology Department, CHU de Grenoble, Joseph Fourier University, and INSERM U836, 38000 Grenoble, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Neurology Department, CHU de Grenoble, Joseph Fourier University, and INSERM U836, 38000 Grenoble</wicri:regionArea>
<placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
<region type="old region" nuts="2">Rhône-Alpes</region>
<settlement type="city">Grenoble</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Leutenegger, Anne Louise" sort="Leutenegger, Anne Louise" uniqKey="Leutenegger A" first="Anne-Louise" last="Leutenegger">Anne-Louise Leutenegger</name>
<affiliation wicri:level="3"><nlm:aff id="aff16">Inserm U946, 75010 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U946, 75010 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff17">Université Paris Diderot, Institut Universitaire d’Hématologie, UMR946, 75010 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Université Paris Diderot, Institut Universitaire d’Hématologie, UMR946, 75010 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nalls, Michael A" sort="Nalls, Michael A" uniqKey="Nalls M" first="Michael A." last="Nalls">Michael A. Nalls</name>
<affiliation wicri:level="2"><nlm:aff id="aff5">Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hernandez, Dena G" sort="Hernandez, Dena G" uniqKey="Hernandez D" first="Dena G." last="Hernandez">Dena G. Hernandez</name>
<affiliation wicri:level="2"><nlm:aff id="aff5">Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name>
<affiliation wicri:level="3"><nlm:aff id="aff18">Hertie Institute for Clinical Brain Research, University of Tübingen and DZNE, German Center for Neurodegenerative Diseases, 72074 Tübingen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Hertie Institute for Clinical Brain Research, University of Tübingen and DZNE, German Center for Neurodegenerative Diseases, 72074 Tübingen</wicri:regionArea>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Tübingen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gibbs, J Raphael" sort="Gibbs, J Raphael" uniqKey="Gibbs J" first="J. Raphael" last="Gibbs">J. Raphael Gibbs</name>
<affiliation wicri:level="2"><nlm:aff id="aff5">Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<affiliation wicri:level="1"><nlm:aff id="aff19">Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG</wicri:regionArea>
<wicri:noRegion>London WC1N 3BG</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name>
<affiliation wicri:level="1"><nlm:aff id="aff19">Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG</wicri:regionArea>
<wicri:noRegion>London WC1N 3BG</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name>
<affiliation wicri:level="3"><nlm:aff id="aff18">Hertie Institute for Clinical Brain Research, University of Tübingen and DZNE, German Center for Neurodegenerative Diseases, 72074 Tübingen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Hertie Institute for Clinical Brain Research, University of Tübingen and DZNE, German Center for Neurodegenerative Diseases, 72074 Tübingen</wicri:regionArea>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Tübingen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 7225, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff20">Department of Genetics and Cytogenetics, AP-HP, Hôpital de la Salpêtrière, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Genetics and Cytogenetics, AP-HP, Hôpital de la Salpêtrière, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Deleuze, Jean Francois" sort="Deleuze, Jean Francois" uniqKey="Deleuze J" first="Jean-François" last="Deleuze">Jean-François Deleuze</name>
<affiliation wicri:level="3"><nlm:aff id="aff21">Commissariat à l’Energie Atomique, Institut Génomique, Centre National de Génotypage, 91000 Evry, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Commissariat à l’Energie Atomique, Institut Génomique, Centre National de Génotypage, 91000 Evry</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Evry</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tazir, Meriem" sort="Tazir, Meriem" uniqKey="Tazir M" first="Meriem" last="Tazir">Meriem Tazir</name>
<affiliation wicri:level="1"><nlm:aff id="aff22">Service de Neurologie CHU Mustapha, 16000 Alger, Algérie</nlm:aff>
<country xml:lang="fr">Algérie</country>
<wicri:regionArea>Service de Neurologie CHU Mustapha, 16000 Alger</wicri:regionArea>
<placeName><settlement type="city">Alger</settlement>
<region nuts="2">Wilaya d'Alger</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name>
<affiliation wicri:level="3"><nlm:aff id="aff23">Movement Disorders Unit, Lille University, Inserm U837, Lille University Hospital, 59000 Lille, France</nlm:aff>
<country xml:lang="fr">France</country>
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<placeName><settlement type="city">Lille</settlement>
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</placeName>
<orgName type="university" n="3">Université Lille 2</orgName>
<orgName type="institution" wicri:auto="newGroup">Université Lille Nord de France</orgName>
</affiliation>
</author>
<author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name>
<affiliation wicri:level="1"><nlm:aff id="aff10">Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul</wicri:regionArea>
<wicri:noRegion>34390 Istanbul</wicri:noRegion>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff24">Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, and DZNE, German Center for Neurodegenerative Diseases, 72076 Tübingen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, and DZNE, German Center for Neurodegenerative Diseases, 72076 Tübingen</wicri:regionArea>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Tübingen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kabashi, Edor" sort="Kabashi, Edor" uniqKey="Kabashi E" first="Edor" last="Kabashi">Edor Kabashi</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 7225, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
<affiliation wicri:level="2"><nlm:aff id="aff5">Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Corti, Olga" sort="Corti, Olga" uniqKey="Corti O" first="Olga" last="Corti">Olga Corti</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 7225, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Inserm U 1127, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U 1127, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff3">CNRS UMR 7225, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 7225, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff4">Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff20">Department of Genetics and Cytogenetics, AP-HP, Hôpital de la Salpêtrière, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Genetics and Cytogenetics, AP-HP, Hôpital de la Salpêtrière, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
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</affiliation>
</author>
</analytic>
<series><title level="j">American Journal of Human Genetics</title>
<idno type="ISSN">0002-9297</idno>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="2016">2016</date>
</imprint>
</series>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Animals</term>
<term>COS Cells</term>
<term>Case-Control Studies</term>
<term>Consanguinity</term>
<term>Female</term>
<term>Gene Silencing</term>
<term>Genetic Heterogeneity</term>
<term>HEK293 Cells</term>
<term>Heterozygote</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mitochondrial Degradation (genetics)</term>
<term>Parkinsonian Disorders (diagnosis)</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Protein Kinases (genetics)</term>
<term>Protein Kinases (metabolism)</term>
<term>Proteins (genetics)</term>
<term>Proteins (metabolism)</term>
<term>Reproducibility of Results</term>
<term>Turkey</term>
<term>Ubiquitin-Protein Ligases (genetics)</term>
<term>Ubiquitin-Protein Ligases (metabolism)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein Kinases</term>
<term>Proteins</term>
<term>Ubiquitin-Protein Ligases</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinsonian Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mitochondrial Degradation</term>
<term>Parkinsonian Disorders</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Protein Kinases</term>
<term>Proteins</term>
<term>Ubiquitin-Protein Ligases</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Animals</term>
<term>COS Cells</term>
<term>Case-Control Studies</term>
<term>Consanguinity</term>
<term>Female</term>
<term>Gene Silencing</term>
<term>Genetic Heterogeneity</term>
<term>HEK293 Cells</term>
<term>Heterozygote</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Reproducibility of Results</term>
<term>Turkey</term>
</keywords>
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<front><div type="abstract" xml:lang="en"><p>Autosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50% of autosomal-recessive early-onset forms of Parkinson disease (PD) remain to be elucidated. Homozygozity mapping and exome sequencing in 62 isolated individuals with early-onset parkinsonism and confirmed consanguinity followed by data mining in the exomes of 1,348 PD-affected individuals identified, in three isolated subjects, homozygous or compound heterozygous truncating mutations in <italic>vacuolar protein sorting 13C</italic>
(<italic>VPS13C</italic>
). <italic>VPS13C</italic>
mutations are associated with a distinct form of early-onset parkinsonism characterized by rapid and severe disease progression and early cognitive decline; the pathological features were striking and reminiscent of diffuse Lewy body disease. In cell models, VPS13C partly localized to the outer membrane of mitochondria. Silencing of <italic>VPS13C</italic>
was associated with lower mitochondrial membrane potential, mitochondrial fragmentation, increased respiration rates, exacerbated PINK1/Parkin-dependent mitophagy, and transcriptional upregulation of <italic>PARK2</italic>
in response to mitochondrial damage. This work suggests that loss of function of VPS13C is a cause of autosomal-recessive early-onset parkinsonism with a distinctive phenotype of rapid and severe progression.</p>
</div>
</front>
</TEI>
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<tree><country name="France"><region name="Île-de-France"><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
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<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Ciura, Sorana" sort="Ciura, Sorana" uniqKey="Ciura S" first="Sorana" last="Ciura">Sorana Ciura</name>
<name sortKey="Ciura, Sorana" sort="Ciura, Sorana" uniqKey="Ciura S" first="Sorana" last="Ciura">Sorana Ciura</name>
<name sortKey="Ciura, Sorana" sort="Ciura, Sorana" uniqKey="Ciura S" first="Sorana" last="Ciura">Sorana Ciura</name>
<name sortKey="Ciura, Sorana" sort="Ciura, Sorana" uniqKey="Ciura S" first="Sorana" last="Ciura">Sorana Ciura</name>
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<name sortKey="Cormier Dequaire, Florence" sort="Cormier Dequaire, Florence" uniqKey="Cormier Dequaire F" first="Florence" last="Cormier-Dequaire">Florence Cormier-Dequaire</name>
<name sortKey="Cormier Dequaire, Florence" sort="Cormier Dequaire, Florence" uniqKey="Cormier Dequaire F" first="Florence" last="Cormier-Dequaire">Florence Cormier-Dequaire</name>
<name sortKey="Cormier Dequaire, Florence" sort="Cormier Dequaire, Florence" uniqKey="Cormier Dequaire F" first="Florence" last="Cormier-Dequaire">Florence Cormier-Dequaire</name>
<name sortKey="Cormier Dequaire, Florence" sort="Cormier Dequaire, Florence" uniqKey="Cormier Dequaire F" first="Florence" last="Cormier-Dequaire">Florence Cormier-Dequaire</name>
<name sortKey="Corti, Olga" sort="Corti, Olga" uniqKey="Corti O" first="Olga" last="Corti">Olga Corti</name>
<name sortKey="Corti, Olga" sort="Corti, Olga" uniqKey="Corti O" first="Olga" last="Corti">Olga Corti</name>
<name sortKey="Corti, Olga" sort="Corti, Olga" uniqKey="Corti O" first="Olga" last="Corti">Olga Corti</name>
<name sortKey="Corti, Olga" sort="Corti, Olga" uniqKey="Corti O" first="Olga" last="Corti">Olga Corti</name>
<name sortKey="Corvol, Jean Christophe" sort="Corvol, Jean Christophe" uniqKey="Corvol J" first="Jean-Christophe" last="Corvol">Jean-Christophe Corvol</name>
<name sortKey="Corvol, Jean Christophe" sort="Corvol, Jean Christophe" uniqKey="Corvol J" first="Jean-Christophe" last="Corvol">Jean-Christophe Corvol</name>
<name sortKey="Corvol, Jean Christophe" sort="Corvol, Jean Christophe" uniqKey="Corvol J" first="Jean-Christophe" last="Corvol">Jean-Christophe Corvol</name>
<name sortKey="Corvol, Jean Christophe" sort="Corvol, Jean Christophe" uniqKey="Corvol J" first="Jean-Christophe" last="Corvol">Jean-Christophe Corvol</name>
<name sortKey="Corvol, Jean Christophe" sort="Corvol, Jean Christophe" uniqKey="Corvol J" first="Jean-Christophe" last="Corvol">Jean-Christophe Corvol</name>
<name sortKey="Deleuze, Jean Francois" sort="Deleuze, Jean Francois" uniqKey="Deleuze J" first="Jean-François" last="Deleuze">Jean-François Deleuze</name>
<name sortKey="Deramecourt, Vincent" sort="Deramecourt, Vincent" uniqKey="Deramecourt V" first="Vincent" last="Deramecourt">Vincent Deramecourt</name>
<name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name>
<name sortKey="Drouet, Valerie" sort="Drouet, Valerie" uniqKey="Drouet V" first="Valérie" last="Drouet">Valérie Drouet</name>
<name sortKey="Drouet, Valerie" sort="Drouet, Valerie" uniqKey="Drouet V" first="Valérie" last="Drouet">Valérie Drouet</name>
<name sortKey="Drouet, Valerie" sort="Drouet, Valerie" uniqKey="Drouet V" first="Valérie" last="Drouet">Valérie Drouet</name>
<name sortKey="Drouet, Valerie" sort="Drouet, Valerie" uniqKey="Drouet V" first="Valérie" last="Drouet">Valérie Drouet</name>
<name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
<name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
<name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
<name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
<name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
<name sortKey="Erpapazoglou, Zoi" sort="Erpapazoglou, Zoi" uniqKey="Erpapazoglou Z" first="Zoi" last="Erpapazoglou">Zoi Erpapazoglou</name>
<name sortKey="Erpapazoglou, Zoi" sort="Erpapazoglou, Zoi" uniqKey="Erpapazoglou Z" first="Zoi" last="Erpapazoglou">Zoi Erpapazoglou</name>
<name sortKey="Erpapazoglou, Zoi" sort="Erpapazoglou, Zoi" uniqKey="Erpapazoglou Z" first="Zoi" last="Erpapazoglou">Zoi Erpapazoglou</name>
<name sortKey="Erpapazoglou, Zoi" sort="Erpapazoglou, Zoi" uniqKey="Erpapazoglou Z" first="Zoi" last="Erpapazoglou">Zoi Erpapazoglou</name>
<name sortKey="Hassoun, Sidi Mohamed" sort="Hassoun, Sidi Mohamed" uniqKey="Hassoun S" first="Sidi Mohamed" last="Hassoun">Sidi Mohamed Hassoun</name>
<name sortKey="Hassoun, Sidi Mohamed" sort="Hassoun, Sidi Mohamed" uniqKey="Hassoun S" first="Sidi Mohamed" last="Hassoun">Sidi Mohamed Hassoun</name>
<name sortKey="Hassoun, Sidi Mohamed" sort="Hassoun, Sidi Mohamed" uniqKey="Hassoun S" first="Sidi Mohamed" last="Hassoun">Sidi Mohamed Hassoun</name>
<name sortKey="Hassoun, Sidi Mohamed" sort="Hassoun, Sidi Mohamed" uniqKey="Hassoun S" first="Sidi Mohamed" last="Hassoun">Sidi Mohamed Hassoun</name>
<name sortKey="Jacoupy, Maxime" sort="Jacoupy, Maxime" uniqKey="Jacoupy M" first="Maxime" last="Jacoupy">Maxime Jacoupy</name>
<name sortKey="Jacoupy, Maxime" sort="Jacoupy, Maxime" uniqKey="Jacoupy M" first="Maxime" last="Jacoupy">Maxime Jacoupy</name>
<name sortKey="Jacoupy, Maxime" sort="Jacoupy, Maxime" uniqKey="Jacoupy M" first="Maxime" last="Jacoupy">Maxime Jacoupy</name>
<name sortKey="Jacoupy, Maxime" sort="Jacoupy, Maxime" uniqKey="Jacoupy M" first="Maxime" last="Jacoupy">Maxime Jacoupy</name>
<name sortKey="Kabashi, Edor" sort="Kabashi, Edor" uniqKey="Kabashi E" first="Edor" last="Kabashi">Edor Kabashi</name>
<name sortKey="Kabashi, Edor" sort="Kabashi, Edor" uniqKey="Kabashi E" first="Edor" last="Kabashi">Edor Kabashi</name>
<name sortKey="Kabashi, Edor" sort="Kabashi, Edor" uniqKey="Kabashi E" first="Edor" last="Kabashi">Edor Kabashi</name>
<name sortKey="Kabashi, Edor" sort="Kabashi, Edor" uniqKey="Kabashi E" first="Edor" last="Kabashi">Edor Kabashi</name>
<name sortKey="Krack, Paul" sort="Krack, Paul" uniqKey="Krack P" first="Paul" last="Krack">Paul Krack</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>
<name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
<name sortKey="Leutenegger, Anne Louise" sort="Leutenegger, Anne Louise" uniqKey="Leutenegger A" first="Anne-Louise" last="Leutenegger">Anne-Louise Leutenegger</name>
<name sortKey="Leutenegger, Anne Louise" sort="Leutenegger, Anne Louise" uniqKey="Leutenegger A" first="Anne-Louise" last="Leutenegger">Anne-Louise Leutenegger</name>
<name sortKey="Maurage, Claude Alain" sort="Maurage, Claude Alain" uniqKey="Maurage C" first="Claude-Alain" last="Maurage">Claude-Alain Maurage</name>
<name sortKey="Nicolas, Aude" sort="Nicolas, Aude" uniqKey="Nicolas A" first="Aude" last="Nicolas">Aude Nicolas</name>
<name sortKey="Nicolas, Aude" sort="Nicolas, Aude" uniqKey="Nicolas A" first="Aude" last="Nicolas">Aude Nicolas</name>
<name sortKey="Nicolas, Aude" sort="Nicolas, Aude" uniqKey="Nicolas A" first="Aude" last="Nicolas">Aude Nicolas</name>
<name sortKey="Nicolas, Aude" sort="Nicolas, Aude" uniqKey="Nicolas A" first="Aude" last="Nicolas">Aude Nicolas</name>
<name sortKey="Pujol, Claire" sort="Pujol, Claire" uniqKey="Pujol C" first="Claire" last="Pujol">Claire Pujol</name>
<name sortKey="Pujol, Claire" sort="Pujol, Claire" uniqKey="Pujol C" first="Claire" last="Pujol">Claire Pujol</name>
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<name sortKey="Pujol, Claire" sort="Pujol, Claire" uniqKey="Pujol C" first="Claire" last="Pujol">Claire Pujol</name>
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