Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

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 earl...

Full description

Saved in:

Bibliographic Details
Published in	American journal of human genetics Vol. 98; no. 3; pp. 500 - 513
Main Authors	Lesage, Suzanne, Deramecourt, Vincent, Jacoupy, Maxime, Hassoun, Sidi Mohamed, Pujol, Claire, Maurage, Claude-Alain, Sahbatou, Mourad, Liebau, Stefan, Bilgic, Basar, Emre, Murat, Erginel-Unaltuna, Nihan, Guven, Gamze, Tison, François, Tranchant, Christine, Corvol, Jean-Christophe, Krack, Paul, Hernandez, Dena G., Gibbs, J. Raphael, Hardy, John, Wood, Nicholas W., Durr, Alexandra, Deleuze, Jean-François, Tazir, Meriem, Destée, Alain, Lohmann, Ebba, Corti, Olga, Brice, Alexis, Vidailhet, Marie, Agid, Yves, Anheim, Mathieu, Bonnet, Anne-Marie, Borg, Michel, Broussolle, Emmanuel, Durif, Franck, Klebe, Stephan, Vérin, Marc, Viallet, François, Majounie, Elisa, Corvol, Jean Christophe, Ben-Shlomo, Yoav, Berg, Daniela, Bhatia, Kailash, Bochdanovits, Zoltan, Bonin, Michael, Bras, Jose M., Brockmann, Kathrin, Burn, David J., Chen, Honglei, Clarke, Carl E., Cookson, Mark R., Counsell, Carl, van Dijk, Karin D., Dong, Jing, Escott-Price, Valentina, Evans, Jonathan R., Gray, Emma, Guerreiro, Rita, van Hilten, Jacobus J., Hollenbeck, Albert, Holmans, Peter, Hu, Michèle, Hudson, Gavin, Hunt, Sarah E., Kilarski, Laura L., Jansen, Iris E., Langford, Cordelia, Lees, Andrew, Lorenz, Delia, Lubbe, Steven, Lungu, Codrin, Martinez, María, Mätzler, Walter, McNeill, Alisdair, Moorby, Catriona, O’Sullivan, Sean S., Pearson, Justin, Ravina, Bernard, Rivadeneira, Fernando, Ryten, Mina, Schapira, Anthony, Sharma, Manu, Sheerin, Una-Marie, Sidransky, Ellen, Spencer, Chris C.A., Stefánsson, Kári, Strange, Amy, Talbot, Kevin, Trabzuni, Daniah, Uitterlinden, André G., van de Warrenburg, Bart, Williams-Gray, Caroline H., Winder-Rhodes, Sophie
Format	Journal Article
Language	English
Published	United States Elsevier Inc 03.03.2016 Elsevier (Cell Press) Elsevier
Subjects	Adult Aged Animals Case-Control Studies Consanguinity COS Cells Female Gene Silencing Genetic Heterogeneity HEK293 Cells Heterozygote Homozygote Humans Life Sciences Male Middle Aged Mitophagy - genetics Neurons and Cognition 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 Turkey
Online Access	Get full text

Cover

Loading…

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 vacuolar protein sorting 13C (VPS13C). VPS13C 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 VPS13C was associated with lower mitochondrial membrane potential, mitochondrial fragmentation, increased respiration rates, exacerbated PINK1/Parkin-dependent mitophagy, and transcriptional upregulation of PARK2 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.
AbstractList	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 vacuolar protein sorting 13C (VPS13C). VPS13C 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 VPS13C was associated with lower mitochondrial membrane potential, mitochondrial fragmentation, increased respiration rates, exacerbated PINK1/Parkin-dependent mitophagy, and transcriptional upregulation of PARK2 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. 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 vacuolar protein sorting 13C ( VPS13C ). VPS13C 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 VPS13C was associated with lower mitochondrial membrane potential, mitochondrial fragmentation, increased respiration rates, exacerbated PINK1/Parkin-dependent mitophagy, and transcriptional upregulation of PARK2 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. 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 vacuolar protein sorting 13C (VPS13C). VPS13C 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 VPS13C was associated with lower mitochondrial membrane potential, mitochondrial fragmentation, increased respiration rates, exacerbated PINK1/Parkin-dependent mitophagy, and transcriptional upregulation of PARK2 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.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 vacuolar protein sorting 13C (VPS13C). VPS13C 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 VPS13C was associated with lower mitochondrial membrane potential, mitochondrial fragmentation, increased respiration rates, exacerbated PINK1/Parkin-dependent mitophagy, and transcriptional upregulation of PARK2 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.
Author	Ryten, Mina Sahbatou, Mourad Lubbe, Steven Post, Bart Counsell, Carl Pollak, Pierre Gardner, Michelle Hernandez, Dena G. Trabzuni, Daniah de Bie, Rob M.A. Plagnol, Vincent Sharma, Manu Revesz, Tamas Krack, Paul Damier, Philippe Bras, Jose M. Kilarski, Laura L. Schulte, Claudia Drouet, Valérie Pujol, Claire Lorenz, Delia Lesage, Suzanne Tranchant, Christine Sidransky, Ellen Foltynie, Thomas Harris, Clare Brockmann, Kathrin Brooks, Janet Corvol, Jean-Christophe Edkins, Sarah Scheffer, Hans Escott-Price, Valentina Moore, Matthew Bilgic, Basar Cookson, Mark R. Agid, Yves Ben-Shlomo, Yoav Wickremaratchi, Mirdhu Hudson, Gavin Williams-Gray, Caroline H. Corvol, Jean Christophe Huttenlocher, Johanna Lichtner, Peter Perlmutter, Joel S. Biffi, Alessandro Pearson, Justin Spencer, Chris C.A. Tazir, Meriem Dürr, Alexandra Clarke, Carl E. Sawcer, Stephen Tashakkori-Ghanbaria, Avazeh Bochdanovits, Zoltan Riess, Olaf Borg, Michel Vérin, Marc Lees, Andrew Jacoupy, Maxime Rizzu, Patrizia Pétursson, Hjörvar van Dijk, Karin D. Tison, François Chen, Honglei Lopez, Gri
AuthorAffiliation	14 Pôle des Maladies du Système Nerveux, Fédération de Neurologie, Hôpital de la Salpêtrière, 75013 Paris, France 21 Commissariat à l’Energie Atomique, Institut Génomique, Centre National de Génotypage, 91000 Evry, France 20 Department of Genetics and Cytogenetics, AP-HP, Hôpital de la Salpêtrière, 75013 Paris, France 17 Université Paris Diderot, Institut Universitaire d’Hématologie, UMR946, 75010 Paris, France 15 Neurology Department, CHU de Grenoble, Joseph Fourier University, and INSERM U836, 38000 Grenoble, France 2 Inserm U 1127, 75013 Paris, France 6 Department of Histology and Pathology, University of Lille Nord de France, Lille University Hospital, 59000 Lille, France 22 Service de Neurologie CHU Mustapha, 16000 Alger, Algérie 10 Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul, Turkey 1 Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France 18 Hertie Institute for Clinical
AuthorAffiliation_xml	– name: 4 Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France – name: 16 Inserm U946, 75010 Paris, France – name: 24 Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, and DZNE, German Center for Neurodegenerative Diseases, 72076 Tübingen, Germany – name: 7 Centre d’Investigation Clinique Pitié Neurosciences CIC-1422, 75013 Paris, France – name: 12 Institut des Maladies Neurodégénératives, Université de Bordeaux et CHU de Bordeaux, 33000 Bordeaux, France – name: 3 CNRS UMR 7225, 75013 Paris, France – name: 18 Hertie Institute for Clinical Brain Research, University of Tübingen and DZNE, German Center for Neurodegenerative Diseases, 72074 Tübingen, Germany – name: 14 Pôle des Maladies du Système Nerveux, Fédération de Neurologie, Hôpital de la Salpêtrière, 75013 Paris, France – name: 10 Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul, Turkey – name: 9 Institute of Neuroanatomy, Eberhard Karls University Tübingen, 72074 Tübingen, Germany – name: 2 Inserm U 1127, 75013 Paris, France – name: 20 Department of Genetics and Cytogenetics, AP-HP, Hôpital de la Salpêtrière, 75013 Paris, France – name: 1 Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France – name: 5 Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA – name: 8 Fondation Jean Dausset-CEPH, 75010 Paris, France – name: 6 Department of Histology and Pathology, University of Lille Nord de France, Lille University Hospital, 59000 Lille, France – name: 23 Movement Disorders Unit, Lille University, Inserm U837, Lille University Hospital, 59000 Lille, France – name: 22 Service de Neurologie CHU Mustapha, 16000 Alger, Algérie – name: 21 Commissariat à l’Energie Atomique, Institut Génomique, Centre National de Génotypage, 91000 Evry, France – name: 11 Department of Genetics, Institute for Experimental Medicine, Istanbul University, 34390 Istanbul, Turkey – name: 19 Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK – name: 15 Neurology Department, CHU de Grenoble, Joseph Fourier University, and INSERM U836, 38000 Grenoble, France – name: 13 Pôle Tête-Cou-CETD, Service de Neurologie, Hôpitaux Universitaires, 67000 Strasbourg, France – name: 17 Université Paris Diderot, Institut Universitaire d’Hématologie, UMR946, 75010 Paris, France
Author_xml	– sequence: 1 givenname: Suzanne surname: Lesage fullname: Lesage, Suzanne organization: Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France – sequence: 4 givenname: Vincent surname: Deramecourt fullname: Deramecourt, Vincent organization: Department of Histology and Pathology, University of Lille Nord de France, Lille University Hospital, 59000 Lille, France – sequence: 5 givenname: Maxime surname: Jacoupy fullname: Jacoupy, Maxime organization: Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France – sequence: 8 givenname: Sidi Mohamed surname: Hassoun fullname: Hassoun, Sidi Mohamed organization: Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France – sequence: 9 givenname: Claire surname: Pujol fullname: Pujol, Claire organization: Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France – sequence: 13 givenname: Claude-Alain surname: Maurage fullname: Maurage, Claude-Alain organization: Department of Histology and Pathology, University of Lille Nord de France, Lille University Hospital, 59000 Lille, France – sequence: 14 givenname: Mourad surname: Sahbatou fullname: Sahbatou, Mourad organization: Fondation Jean Dausset-CEPH, 75010 Paris, France – sequence: 15 givenname: Stefan surname: Liebau fullname: Liebau, Stefan organization: Institute of Neuroanatomy, Eberhard Karls University Tübingen, 72074 Tübingen, Germany – sequence: 17 givenname: Basar surname: Bilgic fullname: Bilgic, Basar organization: Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul, Turkey – sequence: 18 givenname: Murat surname: Emre fullname: Emre, Murat organization: Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul, Turkey – sequence: 19 givenname: Nihan surname: Erginel-Unaltuna fullname: Erginel-Unaltuna, Nihan organization: Department of Genetics, Institute for Experimental Medicine, Istanbul University, 34390 Istanbul, Turkey – sequence: 20 givenname: Gamze surname: Guven fullname: Guven, Gamze organization: Department of Genetics, Institute for Experimental Medicine, Istanbul University, 34390 Istanbul, Turkey – sequence: 21 givenname: François surname: Tison fullname: Tison, François organization: Institut des Maladies Neurodégénératives, Université de Bordeaux et CHU de Bordeaux, 33000 Bordeaux, France – sequence: 22 givenname: Christine surname: Tranchant fullname: Tranchant, Christine organization: Pôle Tête-Cou-CETD, Service de Neurologie, Hôpitaux Universitaires, 67000 Strasbourg, France – sequence: 24 givenname: Jean-Christophe surname: Corvol fullname: Corvol, Jean-Christophe organization: Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France – sequence: 25 givenname: Paul surname: Krack fullname: Krack, Paul organization: Neurology Department, CHU de Grenoble, Joseph Fourier University, and INSERM U836, 38000 Grenoble, France – sequence: 28 givenname: Dena G. surname: Hernandez fullname: Hernandez, Dena G. organization: Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA – sequence: 30 givenname: J. Raphael surname: Gibbs fullname: Gibbs, J. Raphael organization: Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA – sequence: 31 givenname: John surname: Hardy fullname: Hardy, John organization: Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK – sequence: 32 givenname: Nicholas W. surname: Wood fullname: Wood, Nicholas W. organization: Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK – sequence: 34 givenname: Alexandra surname: Durr fullname: Durr, Alexandra organization: Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France – sequence: 35 givenname: Jean-François surname: Deleuze fullname: Deleuze, Jean-François organization: Commissariat à l’Energie Atomique, Institut Génomique, Centre National de Génotypage, 91000 Evry, France – sequence: 36 givenname: Meriem surname: Tazir fullname: Tazir, Meriem organization: Service de Neurologie CHU Mustapha, 16000 Alger, Algérie – sequence: 37 givenname: Alain surname: Destée fullname: Destée, Alain organization: Movement Disorders Unit, Lille University, Inserm U837, Lille University Hospital, 59000 Lille, France – sequence: 38 givenname: Ebba surname: Lohmann fullname: Lohmann, Ebba organization: Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390 Istanbul, Turkey – sequence: 41 givenname: Olga surname: Corti fullname: Corti, Olga email: olga.corti@upmc.fr organization: Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France – sequence: 42 givenname: Alexis surname: Brice fullname: Brice, Alexis email: alexis.brice@upmc.fr organization: Sorbonne Universités, UPMC Université Paris 6 UMR S 1127, 75013 Paris, France – sequence: 43 givenname: Suzanne surname: Lesage fullname: Lesage, Suzanne – sequence: 44 givenname: François surname: Tison fullname: Tison, François – sequence: 45 givenname: Marie surname: Vidailhet fullname: Vidailhet, Marie – sequence: 46 givenname: Jean-Christophe surname: Corvol fullname: Corvol, Jean-Christophe – sequence: 47 givenname: Yves surname: Agid fullname: Agid, Yves – sequence: 48 givenname: Mathieu surname: Anheim fullname: Anheim, Mathieu – sequence: 49 givenname: Anne-Marie surname: Bonnet fullname: Bonnet, Anne-Marie – sequence: 50 givenname: Michel surname: Borg fullname: Borg, Michel – sequence: 51 givenname: Emmanuel surname: Broussolle fullname: Broussolle, Emmanuel – sequence: 55 givenname: Franck surname: Durif fullname: Durif, Franck – sequence: 56 givenname: Paul surname: Krack fullname: Krack, Paul – sequence: 57 givenname: Stephan surname: Klebe fullname: Klebe, Stephan – sequence: 58 givenname: Ebba surname: Lohmann fullname: Lohmann, Ebba – sequence: 63 givenname: Marc surname: Vérin fullname: Vérin, Marc – sequence: 64 givenname: François surname: Viallet fullname: Viallet, François – sequence: 65 givenname: Alexis surname: Brice fullname: Brice, Alexis – sequence: 67 givenname: Elisa surname: Majounie fullname: Majounie, Elisa – sequence: 70 givenname: Jean Christophe surname: Corvol fullname: Corvol, Jean Christophe – sequence: 77 givenname: Yoav surname: Ben-Shlomo fullname: Ben-Shlomo, Yoav – sequence: 78 givenname: Daniela surname: Berg fullname: Berg, Daniela – sequence: 80 givenname: Kailash surname: Bhatia fullname: Bhatia, Kailash – sequence: 84 givenname: Zoltan surname: Bochdanovits fullname: Bochdanovits, Zoltan – sequence: 85 givenname: Michael surname: Bonin fullname: Bonin, Michael – sequence: 107 givenname: Jose M. surname: Bras fullname: Bras, Jose M. – sequence: 108 givenname: Kathrin surname: Brockmann fullname: Brockmann, Kathrin – sequence: 110 givenname: David J. surname: Burn fullname: Burn, David J. – sequence: 112 givenname: Honglei surname: Chen fullname: Chen, Honglei – sequence: 115 givenname: Carl E. surname: Clarke fullname: Clarke, Carl E. – sequence: 116 givenname: Mark R. surname: Cookson fullname: Cookson, Mark R. – sequence: 117 givenname: Carl surname: Counsell fullname: Counsell, Carl – sequence: 123 givenname: Karin D. surname: van Dijk fullname: van Dijk, Karin D. – sequence: 125 givenname: Jing surname: Dong fullname: Dong, Jing – sequence: 128 givenname: Valentina surname: Escott-Price fullname: Escott-Price, Valentina – sequence: 129 givenname: Jonathan R. surname: Evans fullname: Evans, Jonathan R. – sequence: 134 givenname: Emma surname: Gray fullname: Gray, Emma – sequence: 135 givenname: Rita surname: Guerreiro fullname: Guerreiro, Rita – sequence: 137 givenname: Jacobus J. surname: van Hilten fullname: van Hilten, Jacobus J. – sequence: 139 givenname: Albert surname: Hollenbeck fullname: Hollenbeck, Albert – sequence: 140 givenname: Peter surname: Holmans fullname: Holmans, Peter – sequence: 142 givenname: Michèle surname: Hu fullname: Hu, Michèle – sequence: 145 givenname: Gavin surname: Hudson fullname: Hudson, Gavin – sequence: 146 givenname: Sarah E. surname: Hunt fullname: Hunt, Sarah E. – sequence: 150 givenname: Laura L. surname: Kilarski fullname: Kilarski, Laura L. – sequence: 151 givenname: Iris E. surname: Jansen fullname: Jansen, Iris E. – sequence: 153 givenname: Cordelia surname: Langford fullname: Langford, Cordelia – sequence: 154 givenname: Andrew surname: Lees fullname: Lees, Andrew – sequence: 158 givenname: Delia surname: Lorenz fullname: Lorenz, Delia – sequence: 159 givenname: Steven surname: Lubbe fullname: Lubbe, Steven – sequence: 160 givenname: Codrin surname: Lungu fullname: Lungu, Codrin – sequence: 161 givenname: María surname: Martinez fullname: Martinez, María – sequence: 162 givenname: Walter surname: Mätzler fullname: Mätzler, Walter – sequence: 163 givenname: Alisdair surname: McNeill fullname: McNeill, Alisdair – sequence: 164 givenname: Catriona surname: Moorby fullname: Moorby, Catriona – sequence: 168 givenname: Sean S. surname: O’Sullivan fullname: O’Sullivan, Sean S. – sequence: 170 givenname: Justin surname: Pearson fullname: Pearson, Justin – sequence: 177 givenname: Bernard surname: Ravina fullname: Ravina, Bernard – sequence: 180 givenname: Fernando surname: Rivadeneira fullname: Rivadeneira, Fernando – sequence: 182 givenname: Mina surname: Ryten fullname: Ryten, Mina – sequence: 186 givenname: Anthony surname: Schapira fullname: Schapira, Anthony – sequence: 189 givenname: Manu surname: Sharma fullname: Sharma, Manu – sequence: 191 givenname: Una-Marie surname: Sheerin fullname: Sheerin, Una-Marie – sequence: 194 givenname: Ellen surname: Sidransky fullname: Sidransky, Ellen – sequence: 195 givenname: Chris C.A. surname: Spencer fullname: Spencer, Chris C.A. – sequence: 197 givenname: Kári surname: Stefánsson fullname: Stefánsson, Kári – sequence: 199 givenname: Amy surname: Strange fullname: Strange, Amy – sequence: 200 givenname: Kevin surname: Talbot fullname: Talbot, Kevin – sequence: 203 givenname: Daniah surname: Trabzuni fullname: Trabzuni, Daniah – sequence: 205 givenname: André G. surname: Uitterlinden fullname: Uitterlinden, André G. – sequence: 208 givenname: Bart surname: van de Warrenburg fullname: van de Warrenburg, Bart – sequence: 210 givenname: Caroline H. surname: Williams-Gray fullname: Williams-Gray, Caroline H. – sequence: 211 givenname: Sophie surname: Winder-Rhodes fullname: Winder-Rhodes, Sophie – sequence: 216 givenname: John surname: Hardy fullname: Hardy, John – sequence: 217 givenname: Nicholas W. surname: Wood fullname: Wood, Nicholas W.
BackLink	https://www.ncbi.nlm.nih.gov/pubmed/26942284$$D View this record in MEDLINE/PubMed https://hal.sorbonne-universite.fr/hal-01289266$$DView record in HAL
BookMark	eNqNUl1v0zAUtdAQ6wZ_gAeUR_aQ7tpJnERCSFXHWEWBiq9Xy3VuWpfELnZSqb-BPz1nXRHsYUK6kq_sc8691-eekRNjDRLyksKYAuWXm7HcrFdjFvIx0BDpEzKiWZLHnEN2QkYAwOKSlfkpOfN-A0BpAckzcsp4mTJWpCPye269j2wd_Vh8pck0uu6N6rQ1kTbRpO-st61s4i-o0Hu9w2gh3U9tvDXat9FU9h599FF3Vq2tqZyWTXS19_VRRJoqmhnlUA64xezTB3p5UIivcIumQtPd0bdrudo_J09r2Xh8cX-ek-_X775Nb-L55_ez6WQeqwySNJZlAih5WlJepzTN62yZUwBeS6YkVCFXslbLsuIyrSgvKKNQZhwSVdVpwWlyTt4edLf9ssVKhSacbMTW6Va6vbBSi39fjF6Lld2JtAg_mhRB4OIgsH5Au5nMxXAHlBUl43w3FHt9X8zZXz36TrTaK2waadD2XtC8hDLPCsb_A5pDkfMsH1Rf_T3CnyaOxgZAcQAoFwx2WAulOzmYEibSjaAghh0SGzHskBh2KHQdYqCyB9Sj-qOkNwcSBuN2Gp3wSqNRWGmHqhOV1Y_RbwFnB-AV
CitedBy_id	crossref_primary_10_3390_ijms25042320 crossref_primary_10_1002_mds_27193 crossref_primary_10_1007_s00401_020_02227_6 crossref_primary_10_1021_acschemneuro_8b00520 crossref_primary_10_1083_jcb_201606078 crossref_primary_10_1016_j_neurobiolaging_2020_05_005 crossref_primary_10_1016_j_bbalip_2019_158544 crossref_primary_10_3390_biomedicines9111651 crossref_primary_10_3389_fnana_2018_00113 crossref_primary_10_1002_bies_202400023 crossref_primary_10_1007_s00702_024_02774_2 crossref_primary_10_2147_DDDT_S458026 crossref_primary_10_3390_cells8030213 crossref_primary_10_3390_ijms23095106 crossref_primary_10_1080_15548627_2023_2172873 crossref_primary_10_1002_mds_28037 crossref_primary_10_1016_j_jid_2022_11_012 crossref_primary_10_1016_j_tcb_2019_02_004 crossref_primary_10_1016_j_neuint_2022_105344 crossref_primary_10_1016_j_biopha_2024_117387 crossref_primary_10_1007_s10753_024_02156_6 crossref_primary_10_1016_j_neurop_2024_100147 crossref_primary_10_1016_j_bbalip_2021_159003 crossref_primary_10_33549_physiolres_935268 crossref_primary_10_1016_S1634_7072_18_41584_X crossref_primary_10_1083_jcb_201804111 crossref_primary_10_1091_mbc_E23_01_0029 crossref_primary_10_1016_j_ejop_2021_125855 crossref_primary_10_1016_j_mcp_2019_101471 crossref_primary_10_1007_s12035_017_0535_1 crossref_primary_10_1177_25152564221136388 crossref_primary_10_1016_j_neulet_2021_135879 crossref_primary_10_1091_mbc_E22_04_0139 crossref_primary_10_3390_genes13030471 crossref_primary_10_3389_fnagi_2018_00136 crossref_primary_10_1155_2018_8684906 crossref_primary_10_1016_j_parkreldis_2021_11_031 crossref_primary_10_1177_25152564221119347 crossref_primary_10_1177_25152564231210339 crossref_primary_10_3389_fgene_2022_917584 crossref_primary_10_1093_bmb_ldad035 crossref_primary_10_1007_s00401_020_02145_7 crossref_primary_10_1098_rstb_2022_0517 crossref_primary_10_1038_s41598_020_74661_1 crossref_primary_10_1146_annurev_cellbio_120420_014634 crossref_primary_10_1083_jcb_202307094 crossref_primary_10_3389_fneur_2024_1482936 crossref_primary_10_1007_s11064_023_03904_0 crossref_primary_10_3390_ijms222313018 crossref_primary_10_3233_JPD_179009 crossref_primary_10_3390_biomedicines9080918 crossref_primary_10_1016_j_neuron_2023_10_014 crossref_primary_10_15252_embr_202357265 crossref_primary_10_1002_mdc3_13232 crossref_primary_10_3233_JPD_212986 crossref_primary_10_1016_j_neulet_2018_04_020 crossref_primary_10_1002_mds_27516 crossref_primary_10_1186_s13024_022_00555_7 crossref_primary_10_1007_s12035_022_02826_2 crossref_primary_10_1038_s41531_022_00402_y crossref_primary_10_3390_cells12040621 crossref_primary_10_3390_cells10092328 crossref_primary_10_1177_25152564231186489 crossref_primary_10_3389_fcell_2021_612476 crossref_primary_10_3390_ijms242317027 crossref_primary_10_1007_s12041_018_0959_z crossref_primary_10_1038_nrn_2017_25 crossref_primary_10_1083_jcb_201807019 crossref_primary_10_1016_j_arr_2022_101648 crossref_primary_10_1007_s00115_017_0288_0 crossref_primary_10_1083_jcb_202304042 crossref_primary_10_3390_ijms22031193 crossref_primary_10_1016_j_arr_2017_12_007 crossref_primary_10_1177_2515256420908142 crossref_primary_10_3233_JPD_212815 crossref_primary_10_1177_17590914211028364 crossref_primary_10_1091_mbc_E19_08_0439_T crossref_primary_10_7554_eLife_43561 crossref_primary_10_1016_j_omtm_2023_05_012 crossref_primary_10_3389_fneur_2021_648588 crossref_primary_10_1007_s12035_018_1465_2 crossref_primary_10_1083_jcb_202001161 crossref_primary_10_1016_j_parkreldis_2024_107146 crossref_primary_10_1177_25152564221125613 crossref_primary_10_12688_f1000research_16679_1 crossref_primary_10_1016_j_neuron_2022_04_020 crossref_primary_10_1083_jcb_202111095 crossref_primary_10_1083_jcb_202012058 crossref_primary_10_1016_j_ejphar_2021_173962 crossref_primary_10_1080_14737159_2024_2427625 crossref_primary_10_1002_mgg3_1108 crossref_primary_10_3389_fnagi_2024_1417515 crossref_primary_10_1177_25152564231156994 crossref_primary_10_1155_joph_3278794 crossref_primary_10_1002_mds_28982 crossref_primary_10_1093_brain_awaa401 crossref_primary_10_1002_mds_26682 crossref_primary_10_1152_ajpendo_00074_2016 crossref_primary_10_3389_fneur_2018_01168 crossref_primary_10_1016_j_parkreldis_2024_107253 crossref_primary_10_1093_hmg_ddz318 crossref_primary_10_1111_febs_16280 crossref_primary_10_1042_BST20190236 crossref_primary_10_3389_fncel_2022_1031153 crossref_primary_10_1016_j_pneurobio_2020_101772 crossref_primary_10_1016_j_neurobiolaging_2018_03_005 crossref_primary_10_1016_j_cca_2023_117682 crossref_primary_10_1111_cge_14019 crossref_primary_10_1002_adhm_202304588 crossref_primary_10_1371_journal_pone_0170106 crossref_primary_10_3233_JPD_191854 crossref_primary_10_3390_biom13081225 crossref_primary_10_1128_mBio_00852_20 crossref_primary_10_1186_s40246_023_00499_z crossref_primary_10_1111_jnc_14820 crossref_primary_10_3389_fneur_2020_00682 crossref_primary_10_1111_jnc_13731 crossref_primary_10_1016_j_neulet_2016_09_044 crossref_primary_10_3390_antiox10121935 crossref_primary_10_1016_S1474_4422_21_00030_2 crossref_primary_10_1002_prot_26446 crossref_primary_10_1038_srep33850 crossref_primary_10_1016_j_isci_2023_107315 crossref_primary_10_1083_jcb_202106046 crossref_primary_10_3390_ijms22062905 crossref_primary_10_26508_lsa_202201852 crossref_primary_10_1002_ptr_8156 crossref_primary_10_1007_s12031_021_01852_4 crossref_primary_10_1002_ctd2_150 crossref_primary_10_1146_annurev_neuro_100720_034518 crossref_primary_10_3389_fcell_2024_1483902 crossref_primary_10_5607_en_2019_28_4_485 crossref_primary_10_1016_j_jmb_2020_01_037 crossref_primary_10_1083_jcb_202001188 crossref_primary_10_1242_dmm_036830 crossref_primary_10_1016_j_ceb_2018_11_005 crossref_primary_10_1021_acschemneuro_3c00404 crossref_primary_10_1212_WNL_0000000000201354 crossref_primary_10_1016_j_nbd_2020_104782 crossref_primary_10_1186_s13024_023_00676_7 crossref_primary_10_1002_mds_30086 crossref_primary_10_1016_j_neuroscience_2022_07_007 crossref_primary_10_3389_fneur_2022_764917 crossref_primary_10_1083_jcb_201610055 crossref_primary_10_15252_embr_202357758 crossref_primary_10_1186_s13073_021_00878_y crossref_primary_10_3390_ijms25126525 crossref_primary_10_1016_j_parkreldis_2020_10_008 crossref_primary_10_1002_mgg3_411 crossref_primary_10_1007_s10571_021_01039_w crossref_primary_10_1007_s11356_020_07914_1 crossref_primary_10_1212_NXG_0000000000000385 crossref_primary_10_1371_journal_pgen_1009731 crossref_primary_10_3390_cells12232702 crossref_primary_10_1038_s41467_021_21525_5 crossref_primary_10_3892_etm_2024_12494 crossref_primary_10_1016_j_gde_2020_05_027 crossref_primary_10_3390_ijms20133284 crossref_primary_10_3390_ijms22052248 crossref_primary_10_1038_s41531_019_0080_x crossref_primary_10_1007_s11910_017_0780_8 crossref_primary_10_1016_j_neulet_2016_05_011 crossref_primary_10_1016_j_jmb_2023_168144 crossref_primary_10_3390_pharmaceutics15030839 crossref_primary_10_1016_j_neurobiolaging_2016_10_007 crossref_primary_10_1515_hsz_2020_0133 crossref_primary_10_1155_2016_3460234 crossref_primary_10_1515_hsz_2022_0287 crossref_primary_10_1186_s13059_017_1147_9 crossref_primary_10_3389_fnins_2020_00048 crossref_primary_10_1101_cshperspect_a041257 crossref_primary_10_3233_JPD_212684 crossref_primary_10_1111_tra_12726 crossref_primary_10_1016_j_molmet_2017_10_014 crossref_primary_10_3389_fneur_2017_00567 crossref_primary_10_1016_j_parkreldis_2016_12_001 crossref_primary_10_1016_j_nbd_2020_105082 crossref_primary_10_1091_mbc_E19_07_0375 crossref_primary_10_1073_pnas_2008923117 crossref_primary_10_1016_j_bbalip_2019_04_007 crossref_primary_10_1007_s40572_017_0143_2 crossref_primary_10_32604_biocell_2024_049130 crossref_primary_10_3389_fneur_2020_576465 crossref_primary_10_3390_ijms24031874 crossref_primary_10_1007_s10571_022_01265_w crossref_primary_10_1016_j_bbamcr_2019_118603 crossref_primary_10_1074_jbc_RA119_009432 crossref_primary_10_1146_annurev_pathmechdis_031521_034145 crossref_primary_10_1083_jcb_202010004 crossref_primary_10_1016_j_tcb_2021_01_004 crossref_primary_10_1111_cge_13124 crossref_primary_10_1111_jnc_15154 crossref_primary_10_1073_pnas_2203769119 crossref_primary_10_1016_j_ejmg_2017_12_007 crossref_primary_10_3389_fnins_2023_1321250 crossref_primary_10_1083_jcb_202202030 crossref_primary_10_3390_diagnostics13030337 crossref_primary_10_1093_brain_awae355 crossref_primary_10_3389_fnins_2019_01381 crossref_primary_10_1016_j_jns_2016_08_001 crossref_primary_10_1002_ana_25262 crossref_primary_10_1016_j_smrv_2018_01_006 crossref_primary_10_1016_j_neulet_2016_06_053 crossref_primary_10_1016_j_nbd_2024_106710 crossref_primary_10_1002_mds_29419 crossref_primary_10_1101_gad_346759_120 crossref_primary_10_1016_j_pharmthera_2024_108729 crossref_primary_10_1093_braincomms_fcad007 crossref_primary_10_1002_mds_26824 crossref_primary_10_1007_s00401_023_02601_0 crossref_primary_10_20517_and_2024_33 crossref_primary_10_1016_j_pneurobio_2021_102157 crossref_primary_10_3389_fnins_2021_679568 crossref_primary_10_1083_jcb_202311189 crossref_primary_10_3389_fnagi_2021_646901 crossref_primary_10_3389_fneur_2021_648457 crossref_primary_10_1016_j_cels_2018_01_008 crossref_primary_10_1038_s41531_023_00578_x crossref_primary_10_1186_s12881_020_01075_1 crossref_primary_10_3389_fcell_2021_653828 crossref_primary_10_3389_fcell_2020_615600 crossref_primary_10_1016_j_ceb_2020_02_008 crossref_primary_10_1186_s40478_021_01181_y crossref_primary_10_3390_biomedicines9070812 crossref_primary_10_3390_ijms19010176 crossref_primary_10_3390_genes15121611 crossref_primary_10_1038_s41580_019_0180_9 crossref_primary_10_3389_fnagi_2017_00020 crossref_primary_10_3390_cells10092452 crossref_primary_10_1016_j_mcp_2016_11_001 crossref_primary_10_1111_cge_13463 crossref_primary_10_1152_ajpheart_00311_2022 crossref_primary_10_1016_j_parkreldis_2017_12_033 crossref_primary_10_1016_j_nbd_2018_11_012 crossref_primary_10_1242_jcs_259357 crossref_primary_10_1016_j_neurobiolaging_2018_11_012 crossref_primary_10_1002_ana_25787 crossref_primary_10_1002_mds_29445 crossref_primary_10_1155_2017_6390545 crossref_primary_10_3390_ijms24076338 crossref_primary_10_1016_j_neulet_2018_04_005 crossref_primary_10_1083_jcb_201612026 crossref_primary_10_1146_annurev_cellbio_100818_125512 crossref_primary_10_1002_cne_24642 crossref_primary_10_1111_bpa_12545 crossref_primary_10_1111_tra_12523 crossref_primary_10_1021_acs_jmedchem_4c01779 crossref_primary_10_3390_brainsci11050661 crossref_primary_10_1016_j_celrep_2021_109328 crossref_primary_10_1016_j_neuri_2022_100064 crossref_primary_10_1007_s00401_019_02074_0 crossref_primary_10_3390_ijms22126200 crossref_primary_10_1074_jbc_M117_784249 crossref_primary_10_1242_jcs_260227 crossref_primary_10_1083_jcb_202111018 crossref_primary_10_1091_mbc_e16_02_0112 crossref_primary_10_3233_JPD_160989 crossref_primary_10_1016_j_gene_2023_148119 crossref_primary_10_1136_lupus_2024_001271 crossref_primary_10_1186_s13024_019_0323_7 crossref_primary_10_1002_humu_23055 crossref_primary_10_1186_s40478_021_01121_w crossref_primary_10_1074_jbc_REV120_014294 crossref_primary_10_1007_s11910_018_0847_1 crossref_primary_10_3389_fnins_2022_900338 crossref_primary_10_1016_j_parkreldis_2019_11_015 crossref_primary_10_1016_j_neurol_2018_08_004 crossref_primary_10_3390_genes11070828 crossref_primary_10_1371_journal_pone_0249324 crossref_primary_10_3390_ijms222212274 crossref_primary_10_1007_s10571_018_0587_4 crossref_primary_10_1111_jnc_15517 crossref_primary_10_1016_j_gene_2023_147384 crossref_primary_10_1242_dmm_036681 crossref_primary_10_1038_s41467_023_38501_w crossref_primary_10_1038_s41583_024_00812_2 crossref_primary_10_1002_ana_25204 crossref_primary_10_1002_mds_29589 crossref_primary_10_1016_j_phrs_2024_107149 crossref_primary_10_1016_j_parkreldis_2017_02_025 crossref_primary_10_1038_s41531_022_00288_w crossref_primary_10_1073_pnas_2205425119 crossref_primary_10_1002_ana_25220 crossref_primary_10_1016_j_molmed_2016_03_009 crossref_primary_10_1016_j_neurobiolaging_2019_08_030 crossref_primary_10_1016_j_mcna_2019_08_003 crossref_primary_10_1186_s40478_020_00935_4 crossref_primary_10_1016_j_isci_2020_101644 crossref_primary_10_1007_s00441_017_2768_8 crossref_primary_10_1038_nature20414 crossref_primary_10_1007_s11825_018_0197_z crossref_primary_10_1016_j_neurobiolaging_2020_04_016 crossref_primary_10_3389_fcell_2021_636506 crossref_primary_10_1007_s12264_023_01120_y crossref_primary_10_1016_j_neurobiolaging_2018_06_027 crossref_primary_10_1002_mds_28488
Cites_doi	10.1101/gr.107524.110 10.1016/S1353-8020(13)70009-9 10.1523/JNEUROSCI.5537-06.2007 10.1093/nar/18.20.6097 10.1038/emboj.2012.38 10.1136/jnnp.55.3.181 10.1093/brain/awq051 10.1093/nar/gkp215 10.1016/j.ajhg.2011.06.008 10.1086/378207 10.1001/jamaneurol.2013.172 10.1016/j.neuron.2014.11.027 10.1038/nn.3489 10.1016/j.ygeno.2004.04.012 10.1093/bioinformatics/btp698 10.1086/375454 10.1016/0169-328X(96)00003-4 10.4161/auto.25884 10.1016/j.humpath.2010.03.015 10.1016/j.ajhg.2011.06.001 10.1056/NEJM200005253422103 10.1073/pnas.83.23.9075 10.1074/jbc.M110.132514 10.1111/j.1600-0854.2008.00766.x 10.1016/j.neuron.2014.12.007 10.1093/brain/awl005 10.1016/j.cub.2010.05.066 10.1038/cdd.2010.142 10.1038/ng.3043 10.1523/JNEUROSCI.0719-07.2007 10.1038/nprot.2009.151 10.1152/ajpcell.00607.2004 10.1073/pnas.261560998 10.3233/JAD-2012-120160 10.1101/gr.849004 10.1038/cdd.2014.224 10.1002/ana.21492 10.1091/mbc.e03-06-0358 10.1016/j.bbamcr.2014.05.012 10.1038/ncb1080 10.1038/88821 10.1093/nar/gkq603
ContentType	Journal Article
Contributor	Hernandez, Dena G Counsell, Carl Pollak, Pierre Gardner, Michelle Goate, Alison Damier, Philippe Krack, Paul Holmans, Peter Nalls, Michael A Berg, Daniela Clarke, Carl E Lesage, Suzanne Deloukas, Panos Tranchant, Christine Viallet, François Chong, Sean Foltynie, Thomas Harris, Clare Brockmann, Kathrin Brooks, Janet Corvol, Jean-Christophe Bloem, Bastiaan R Edkins, Sarah Bras, Jose M Bhatia, Kailash Escott-Price, Valentina Agid, Yves Ben-Shlomo, Yoav Chinnery, Patrick F Corvol, Jean Christophe Hu, Michèle Biffi, Alessandro Hofman, Albert Dürr, Alexandra Charlesworth, Gavin Barker, Roger A de Bie, Rob M A Bochdanovits, Zoltan van Dijk, Karin D Majounie, Elisa Borg, Michel Vérin, Marc van Hilten, Jacobus J Lohmann, Ebba Gibbs, J Raphael Tison, François Burn, David J Chen, Honglei Gao, Jianjun Dexter, David T Bettella, Francesco Dartigues, Jean-François Arepalli, Sampath Gray, Emma Hollenbeck, Albert Anheim, Mathieu Brice, Alexis Bonin, Michael Broussolle, Emmanuel Dillman, Allissa Bonnet, Anne-Marie Klebe, Stephan Durif, Franck Durif, Frank Guerreiro,
Contributor_xml	– sequence: 1 givenname: Suzanne surname: Lesage fullname: Lesage, Suzanne – sequence: 2 givenname: François surname: Tison fullname: Tison, François – sequence: 3 givenname: Marie surname: Vidailhet fullname: Vidailhet, Marie – sequence: 4 givenname: Jean-Christophe surname: Corvol fullname: Corvol, Jean-Christophe – sequence: 5 givenname: Yves surname: Agid fullname: Agid, Yves – sequence: 6 givenname: Mathieu surname: Anheim fullname: Anheim, Mathieu – sequence: 7 givenname: Anne-Marie surname: Bonnet fullname: Bonnet, Anne-Marie – sequence: 8 givenname: Michel surname: Borg fullname: Borg, Michel – sequence: 9 givenname: Emmanuel surname: Broussolle fullname: Broussolle, Emmanuel – sequence: 10 givenname: Philippe surname: Damier fullname: Damier, Philippe – sequence: 11 givenname: Alain surname: Destée fullname: Destée, Alain – sequence: 12 givenname: Alexandra surname: Dürr fullname: Dürr, Alexandra – sequence: 13 givenname: Franck surname: Durif fullname: Durif, Franck – sequence: 14 givenname: Paul surname: Krack fullname: Krack, Paul – sequence: 15 givenname: Stephan surname: Klebe fullname: Klebe, Stephan – sequence: 16 givenname: Ebba surname: Lohmann fullname: Lohmann, Ebba – sequence: 17 givenname: Maria surname: Martinez fullname: Martinez, Maria – sequence: 18 givenname: Pierre surname: Pollak fullname: Pollak, Pierre – sequence: 19 givenname: Olivier surname: Rascol fullname: Rascol, Olivier – sequence: 20 givenname: Christine surname: Tranchant fullname: Tranchant, Christine – sequence: 21 givenname: Marc surname: Vérin fullname: Vérin, Marc – sequence: 22 givenname: François surname: Viallet fullname: Viallet, François – sequence: 23 givenname: Alexis surname: Brice fullname: Brice, Alexis – sequence: 24 givenname: Elisa surname: Majounie fullname: Majounie, Elisa – sequence: 25 givenname: Jean Christophe surname: Corvol fullname: Corvol, Jean Christophe – sequence: 26 givenname: Michael A surname: Nalls fullname: Nalls, Michael A – sequence: 27 givenname: Dena G surname: Hernandez fullname: Hernandez, Dena G – sequence: 28 givenname: J Raphael surname: Gibbs fullname: Gibbs, J Raphael – sequence: 29 givenname: Sampath surname: Arepalli fullname: Arepalli, Sampath – sequence: 30 givenname: Roger A surname: Barker fullname: Barker, Roger A – sequence: 31 givenname: Yoav surname: Ben-Shlomo fullname: Ben-Shlomo, Yoav – sequence: 32 givenname: Daniela surname: Berg fullname: Berg, Daniela – sequence: 33 givenname: Francesco surname: Bettella fullname: Bettella, Francesco – sequence: 34 givenname: Kailash surname: Bhatia fullname: Bhatia, Kailash – sequence: 35 givenname: Rob M A surname: de Bie fullname: de Bie, Rob M A – sequence: 36 givenname: Alessandro surname: Biffi fullname: Biffi, Alessandro – sequence: 37 givenname: Bastiaan R surname: Bloem fullname: Bloem, Bastiaan R – sequence: 38 givenname: Zoltan surname: Bochdanovits fullname: Bochdanovits, Zoltan – sequence: 39 givenname: Michael surname: Bonin fullname: Bonin, Michael – sequence: 40 givenname: Jose M surname: Bras fullname: Bras, Jose M – sequence: 41 givenname: Kathrin surname: Brockmann fullname: Brockmann, Kathrin – sequence: 42 givenname: Janet surname: Brooks fullname: Brooks, Janet – sequence: 43 givenname: David J surname: Burn fullname: Burn, David J – sequence: 44 givenname: Gavin surname: Charlesworth fullname: Charlesworth, Gavin – sequence: 45 givenname: Honglei surname: Chen fullname: Chen, Honglei – sequence: 46 givenname: Patrick F surname: Chinnery fullname: Chinnery, Patrick F – sequence: 47 givenname: Sean surname: Chong fullname: Chong, Sean – sequence: 48 givenname: Carl E surname: Clarke fullname: Clarke, Carl E – sequence: 49 givenname: Mark R surname: Cookson fullname: Cookson, Mark R – sequence: 50 givenname: Carl surname: Counsell fullname: Counsell, Carl – sequence: 51 givenname: Jean-François surname: Dartigues fullname: Dartigues, Jean-François – sequence: 52 givenname: Panos surname: Deloukas fullname: Deloukas, Panos – sequence: 53 givenname: Günther surname: Deuschl fullname: Deuschl, Günther – sequence: 54 givenname: David T surname: Dexter fullname: Dexter, David T – sequence: 55 givenname: Karin D surname: van Dijk fullname: van Dijk, Karin D – sequence: 56 givenname: Allissa surname: Dillman fullname: Dillman, Allissa – sequence: 57 givenname: Jing surname: Dong fullname: Dong, Jing – sequence: 58 givenname: Frank surname: Durif fullname: Durif, Frank – sequence: 59 givenname: Sarah surname: Edkins fullname: Edkins, Sarah – sequence: 60 givenname: Valentina surname: Escott-Price fullname: Escott-Price, Valentina – sequence: 61 givenname: Jonathan R surname: Evans fullname: Evans, Jonathan R – sequence: 62 givenname: Thomas surname: Foltynie fullname: Foltynie, Thomas – sequence: 63 givenname: Jianjun surname: Gao fullname: Gao, Jianjun – sequence: 64 givenname: Michelle surname: Gardner fullname: Gardner, Michelle – sequence: 65 givenname: Alison surname: Goate fullname: Goate, Alison – sequence: 66 givenname: Emma surname: Gray fullname: Gray, Emma – sequence: 67 givenname: Rita surname: Guerreiro fullname: Guerreiro, Rita – sequence: 68 givenname: Clare surname: Harris fullname: Harris, Clare – sequence: 69 givenname: Jacobus J surname: van Hilten fullname: van Hilten, Jacobus J – sequence: 70 givenname: Albert surname: Hofman fullname: Hofman, Albert – sequence: 71 givenname: Albert surname: Hollenbeck fullname: Hollenbeck, Albert – sequence: 72 givenname: Peter surname: Holmans fullname: Holmans, Peter – sequence: 73 givenname: Janice surname: Holton fullname: Holton, Janice – sequence: 74 givenname: Michèle surname: Hu fullname: Hu, Michèle
Copyright	2016 The American Society of Human Genetics Copyright © 2016 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. Distributed under a Creative Commons Attribution 4.0 International License 2016 by The American Society of Human Genetics. All rights reserved. 2016 The American Society of Human Genetics
Copyright_xml	– notice: 2016 The American Society of Human Genetics – notice: Copyright © 2016 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. – notice: Distributed under a Creative Commons Attribution 4.0 International License – notice: 2016 by The American Society of Human Genetics. All rights reserved. 2016 The American Society of Human Genetics
CorporateAuthor	the International Parkinson's Disease Genomics Consortium (IPDGC) French Parkinson's Disease Genetics Study (PDG) International Parkinson's Disease Genomics Consortium (IPDGC)
CorporateAuthor_xml	– name: the International Parkinson's Disease Genomics Consortium (IPDGC) – name: French Parkinson's Disease Genetics Study (PDG) – name: International Parkinson's Disease Genomics Consortium (IPDGC)
DBID	6I. AAFTH AAYXX CITATION CGR CUY CVF ECM EIF NPM 7X8 7TK 7TM 8FD FR3 P64 RC3 1XC VOOES 5PM
DOI	10.1016/j.ajhg.2016.01.014
DatabaseName	ScienceDirect Open Access Titles Elsevier:ScienceDirect:Open Access CrossRef Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed MEDLINE - Academic Neurosciences Abstracts Nucleic Acids Abstracts Technology Research Database Engineering Research Database Biotechnology and BioEngineering Abstracts Genetics Abstracts Hyper Article en Ligne (HAL) Hyper Article en Ligne (HAL) (Open Access) PubMed Central (Full Participant titles)
DatabaseTitle	CrossRef MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) MEDLINE - Academic Genetics Abstracts Engineering Research Database Technology Research Database Neurosciences Abstracts Nucleic Acids Abstracts Biotechnology and BioEngineering Abstracts
DatabaseTitleList	MEDLINE - Academic Genetics Abstracts MEDLINE
Database_xml	– sequence: 1 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: EIF name: MEDLINE url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search sourceTypes: Index Database
DeliveryMethod	fulltext_linktorsrc
Discipline	Biology
EISSN	1537-6605
EndPage	513
ExternalDocumentID	PMC4800038 oai_HAL_hal_01289266v1 26942284 10_1016_j_ajhg_2016_01_014 S0002929716000483
Genre	Research Support, Non-U.S. Gov't Journal Article Research Support, N.I.H., Intramural
GeographicLocations	Turkey
GeographicLocations_xml	– name: Turkey
GrantInformation_xml	– fundername: Parkinson's UK grantid: K-1501 – fundername: Parkinson's UK grantid: G-1107 – fundername: NINDS NIH HHS grantid: R01 NS075321 – fundername: Parkinson's UK grantid: G-0909 – fundername: Medical Research Council grantid: G1100643/1 – fundername: Intramural NIH HHS grantid: Z01 AG000958 – fundername: Medical Research Council grantid: G0700943 – fundername: Parkinson's UK grantid: F-1202 – fundername: Medical Research Council grantid: MR/L501554/1 – fundername: Medical Research Council grantid: G1100643
GroupedDBID	--- --K --Z -~X 0R~ 123 1~5 23M 2WC 4.4 457 4G. 53G 5GY 62- 6I. 6J9 7-5 85S AACTN AAEDT AAEDW AAFTH AAIAV AAKRW AALRI AAUCE AAVLU AAWTL AAXJY AAXUO ABJNI ABMAC ABMWF ABOCM ABVKL ACGFO ACGFS ACGOD ACNCT ACPRK ADBBV ADEZE ADJPV AENEX AEXQZ AFRAH AFTJW AGKMS AHMBA AITUG ALKID ALMA_UNASSIGNED_HOLDINGS AMRAJ AOIJS ASPBG AVWKF AZFZN BAWUL CS3 D0L DIK E3Z EBS ECV EJD F5P FCP FDB FEDTE GX1 HVGLF HYE IH2 IHE IXB JIG KQ8 L7B M41 NCXOZ O-L O9- OK1 P2P PQQKQ RCE RIG RNS ROL RPM RPZ SES SJN SSZ TN5 TR2 TWZ UHB UKR UNMZH UPT VQA WH7 WQ6 ZA5 ZCA .55 .GJ 34R 3O- 41~ AAFWJ AAIKJ AAMRU AAQXK AAYWO AAYXX ABDGV ABWVN ACKIV ACRPL ACVFH ADCNI ADMUD ADNMO ADVLN ADXHL AEUPX AFPUW AGCDD AGCQF AGHFR AGQPQ AI. AIGII AKAPO AKBMS AKRWK AKYEP APXCP C1A CITATION FA8 FGOYB HZ~ MVM NEJ OHT OZT R2- VH1 WOQ X7M XOL ZCG ZGI ZXP CGR CUY CVF ECM EFKBS EIF NPM 7X8 7TK 7TM 8FD FR3 P64 RC3 1XC VOOES 5PM
ID	FETCH-LOGICAL-c5034-a930ea64916f4147f5b71006fa2ca0d710cafcb9d6a4d168121095603cdf48613
IEDL.DBID	IXB
ISSN	0002-9297 1537-6605
IngestDate	Thu Aug 21 18:07:04 EDT 2025 Sat Jun 28 06:35:48 EDT 2025 Thu Jul 10 22:17:15 EDT 2025 Thu Jul 10 17:50:52 EDT 2025 Mon Jul 21 05:51:05 EDT 2025 Tue Jul 01 03:39:14 EDT 2025 Thu Apr 24 23:01:25 EDT 2025 Fri Feb 23 02:29:30 EST 2024
IsDoiOpenAccess	true
IsOpenAccess	true
IsPeerReviewed	true
IsScholarly	true
Issue	3
Language	English
License	http://www.elsevier.com/open-access/userlicense/1.0 Copyright © 2016 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. Distributed under a Creative Commons Attribution 4.0 International License: http://creativecommons.org/licenses/by/4.0
LinkModel	DirectLink
MergedId	FETCHMERGED-LOGICAL-c5034-a930ea64916f4147f5b71006fa2ca0d710cafcb9d6a4d168121095603cdf48613
Notes	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 These authors contributed equally to this work
ORCID	0000-0003-4882-2647 0000-0002-0941-3990 0000-0002-2409-9143 0000-0003-2093-7389 0000-0002-8921-7104 0000-0003-4118-251X 0000-0002-5358-4463 0000-0002-2895-1292 0000-0002-1302-4357 0000-0001-7325-0199
OpenAccessLink	https://www.sciencedirect.com/science/article/pii/S0002929716000483
PMID	26942284
PQID	1770876571
PQPubID	23479
PageCount	14
ParticipantIDs	pubmedcentral_primary_oai_pubmedcentral_nih_gov_4800038 hal_primary_oai_HAL_hal_01289266v1 proquest_miscellaneous_1790975826 proquest_miscellaneous_1770876571 pubmed_primary_26942284 crossref_citationtrail_10_1016_j_ajhg_2016_01_014 crossref_primary_10_1016_j_ajhg_2016_01_014 elsevier_sciencedirect_doi_10_1016_j_ajhg_2016_01_014
ProviderPackageCode	CITATION AAYXX
PublicationCentury	2000
PublicationDate	2016-03-03
PublicationDateYYYYMMDD	2016-03-03
PublicationDate_xml	– month: 03 year: 2016 text: 2016-03-03 day: 03
PublicationDecade	2010
PublicationPlace	United States
PublicationPlace_xml	– name: United States
PublicationTitle	American journal of human genetics
PublicationTitleAlternate	Am J Hum Genet
PublicationYear	2016
Publisher	Elsevier Inc Elsevier (Cell Press) Elsevier
Publisher_xml	– name: Elsevier Inc – name: Elsevier (Cell Press) – name: Elsevier
References	Wieckowski, Giorgi, Lebiedzinska, Duszynski, Pinton (bib20) 2009; 4 An, Kim, Kim, Kim, Yoo, Lee (bib32) 2012; 43 Ibáñez, Lesage, Lohmann, Thobois, De Michele, Borg, Agid, Dürr, Brice (bib3) 2006; 129 McKenna, Hanna, Banks, Sivachenko, Cibulskis, Kernytsky, Garimella, Altshuler, Gabriel, Daly, DePristo (bib12) 2010; 20 Velayos-Baeza, Vettori, Copley, Dobson-Stone, Monaco (bib23) 2004; 84 Koopman, Verkaart, Visch, van der Westhuizen, Murphy, van den Heuvel, Smeitink, Willems (bib21) 2005; 288 Leutenegger, Prum, Génin, Verny, Lemainque, Clerget-Darpoux, Thompson (bib8) 2003; 73 Crooks, Hon, Chandonia, Brenner (bib14) 2004; 14 Bertolin, Ferrando-Miguel, Jacoupy, Traver, Grenier, Greene, Dauphin, Waharte, Bayot, Salamero (bib17) 2013; 9 Rampoldi, Dobson-Stone, Rubio, Danek, Chalmers, Wood, Verellen, Ferrer, Malandrini, Fabrizi (bib30) 2001; 28 Almeida, Moncada, Bolaños (bib39) 2004; 6 Deramecourt, Lebert, Maurage, Fernandez-Gomez, Dujardin, Colin, Sergeant, Buée-Scherrer, Clot, Ber (bib10) 2012; 31 Wang, Li, Hakonarson (bib13) 2010; 38 Zimprich, Benet-Pagès, Struhal, Graf, Eck, Offman, Haubenberger, Spielberger, Schulte, Lichtner (bib36) 2011; 89 Kolehmainen, Black, Saarinen, Chandler, Clayton-Smith, Träskelin, Perveen, Kivitie-Kallio, Norio, Warburg (bib31) 2003; 72 Bankaitis, Johnson, Emr (bib34) 1986; 83 Bonifati (bib1) 2014; 20 Samaranch, Lorenzo-Betancor, Arbelo, Ferrer, Lorenzo, Irigoyen, Pastor, Marrero, Isla, Herrera-Henriquez, Pastor (bib29) 2010; 133 Nalls, Pankratz, Lill, Do, Hernandez, Saad, DeStefano, Kara, Bras, Sharma (bib43) 2014; 46 Buhlman, Damiano, Bertolin, Ferrando-Miguel, Lombès, Brice, Corti (bib22) 2014; 1843 Pickrell, Youle (bib4) 2015; 85 Rugarli, Langer (bib40) 2012; 31 Vilariño-Güell, Wider, Ross, Dachsel, Kachergus, Lincoln, Soto-Ortolaza, Cobb, Wilhoite, Bacon (bib35) 2011; 89 Doherty, Silveira-Moriyama, Parkkinen, Healy, Farrell, Mencacci, Ahmed, Brett, Hardy, Quinn (bib28) 2013; 70 Hughes, Daniel, Kilford, Lees (bib7) 1992; 55 Erpapazoglou, Froissard, Nondier, Lesuisse, Haguenauer-Tsapis, Belgareh-Touzé (bib18) 2008; 9 Desmet, Hamroun, Lalande, Collod-Béroud, Claustres, Béroud (bib15) 2009; 37 Richardson, Winistorfer, Poupon, Luzio, Piper (bib33) 2004; 15 Choubey, Safiulina, Vaarmann, Cagalinec, Wareski, Kuum, Zharkovsky, Kaasik (bib41) 2011; 286 Dhungel, Eleuteri, Li, Kramer, Chartron, Spencer, Kosberg, Fields, Stafa, Adame (bib42) 2015; 85 McLelland, Soubannier, Chen, McBride, Fon (bib6) 2014; 33 Bertolin, Jacoupy, Traver, Ferrando-Miguel, Saint Georges, Grenier, Ardila-Osorio, Muriel, Takahashi, Lees (bib19) 2015; 22 Mortiboys, Thomas, Koopman, Klaffke, Abou-Sleiman, Olpin, Wood, Willems, Smeitink, Cookson, Bandmann (bib25) 2008; 64 Braschi, Goyon, Zunino, Mohanty, Xu, McBride (bib37) 2010; 20 Lücking, Dürr, Bonifati, Vaughan, De Michele, Gasser, Harhangi, Meco, Denèfle, Wood (bib2) 2000; 342 Burchell, Nelson, Sanchez-Martinez, Delgado-Camprubi, Ivatt, Pogson, Randle, Wray, Lewis, Houlden (bib5) 2013; 16 Buée-Scherrer, Condamines, Mourton-Gilles, Jakes, Goedert, Pau, Delacourte (bib9) 1996; 39 Henn, Bouman, Schlehe, Schlierf, Schramm, Wegener, Nakaso, Culmsee, Berninger, Krappmann (bib26) 2007; 27 Bouman, Schlierf, Lutz, Shan, Deinlein, Kast, Galehdar, Palmisano, Patenge, Berg (bib27) 2011; 18 Almeida, Almeida, Bolaños, Moncada (bib38) 2001; 98 Li, Durbin (bib11) 2010; 26 Schneider, Stephens (bib16) 1990; 18 Exner, Treske, Paquet, Holmström, Schiesling, Gispert, Carballo-Carbajal, Berg, Hoepken, Gasser (bib24) 2007; 27 Hughes (10.1016/j.ajhg.2016.01.014_bib7) 1992; 55 Schneider (10.1016/j.ajhg.2016.01.014_bib16) 1990; 18 Koopman (10.1016/j.ajhg.2016.01.014_bib21) 2005; 288 Dhungel (10.1016/j.ajhg.2016.01.014_bib42) 2015; 85 Bertolin (10.1016/j.ajhg.2016.01.014_bib19) 2015; 22 Burchell (10.1016/j.ajhg.2016.01.014_bib5) 2013; 16 Rampoldi (10.1016/j.ajhg.2016.01.014_bib30) 2001; 28 Nalls (10.1016/j.ajhg.2016.01.014_bib43) 2014; 46 Ibáñez (10.1016/j.ajhg.2016.01.014_bib3) 2006; 129 Zimprich (10.1016/j.ajhg.2016.01.014_bib36) 2011; 89 Bonifati (10.1016/j.ajhg.2016.01.014_bib1) 2014; 20 Richardson (10.1016/j.ajhg.2016.01.014_bib33) 2004; 15 Bankaitis (10.1016/j.ajhg.2016.01.014_bib34) 1986; 83 Vilariño-Güell (10.1016/j.ajhg.2016.01.014_bib35) 2011; 89 Almeida (10.1016/j.ajhg.2016.01.014_bib39) 2004; 6 Pickrell (10.1016/j.ajhg.2016.01.014_bib4) 2015; 85 Mortiboys (10.1016/j.ajhg.2016.01.014_bib25) 2008; 64 Bouman (10.1016/j.ajhg.2016.01.014_bib27) 2011; 18 Kolehmainen (10.1016/j.ajhg.2016.01.014_bib31) 2003; 72 Leutenegger (10.1016/j.ajhg.2016.01.014_bib8) 2003; 73 Rugarli (10.1016/j.ajhg.2016.01.014_bib40) 2012; 31 McLelland (10.1016/j.ajhg.2016.01.014_bib6) 2014; 33 Henn (10.1016/j.ajhg.2016.01.014_bib26) 2007; 27 Buhlman (10.1016/j.ajhg.2016.01.014_bib22) 2014; 1843 An (10.1016/j.ajhg.2016.01.014_bib32) 2012; 43 Crooks (10.1016/j.ajhg.2016.01.014_bib14) 2004; 14 Desmet (10.1016/j.ajhg.2016.01.014_bib15) 2009; 37 Samaranch (10.1016/j.ajhg.2016.01.014_bib29) 2010; 133 Buée-Scherrer (10.1016/j.ajhg.2016.01.014_bib9) 1996; 39 Wang (10.1016/j.ajhg.2016.01.014_bib13) 2010; 38 Deramecourt (10.1016/j.ajhg.2016.01.014_bib10) 2012; 31 Braschi (10.1016/j.ajhg.2016.01.014_bib37) 2010; 20 Erpapazoglou (10.1016/j.ajhg.2016.01.014_bib18) 2008; 9 Doherty (10.1016/j.ajhg.2016.01.014_bib28) 2013; 70 Bertolin (10.1016/j.ajhg.2016.01.014_bib17) 2013; 9 Almeida (10.1016/j.ajhg.2016.01.014_bib38) 2001; 98 Exner (10.1016/j.ajhg.2016.01.014_bib24) 2007; 27 Li (10.1016/j.ajhg.2016.01.014_bib11) 2010; 26 McKenna (10.1016/j.ajhg.2016.01.014_bib12) 2010; 20 Choubey (10.1016/j.ajhg.2016.01.014_bib41) 2011; 286 Lücking (10.1016/j.ajhg.2016.01.014_bib2) 2000; 342 Wieckowski (10.1016/j.ajhg.2016.01.014_bib20) 2009; 4 Velayos-Baeza (10.1016/j.ajhg.2016.01.014_bib23) 2004; 84 27213732 - Mov Disord. 2016 Sep;31(9):1340. doi: 10.1002/mds.26682.
References_xml	– volume: 133 start-page: 1128 year: 2010 end-page: 1142 ident: bib29 article-title: PINK1-linked parkinsonism is associated with Lewy body pathology publication-title: Brain – volume: 15 start-page: 1197 year: 2004 end-page: 1210 ident: bib33 article-title: Mammalian late vacuole protein sorting orthologues participate in early endosomal fusion and interact with the cytoskeleton publication-title: Mol. Biol. Cell – volume: 129 start-page: 686 year: 2006 end-page: 694 ident: bib3 article-title: Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa publication-title: Brain – volume: 31 start-page: 741 year: 2012 end-page: 749 ident: bib10 article-title: Clinical, neuropathological, and biochemical characterization of the novel tau mutation P332S publication-title: J. Alzheimers Dis. – volume: 20 start-page: 1310 year: 2010 end-page: 1315 ident: bib37 article-title: Vps35 mediates vesicle transport between the mitochondria and peroxisomes publication-title: Curr. Biol. – volume: 33 start-page: 282 year: 2014 end-page: 295 ident: bib6 article-title: Parkin and PINK1 function in a vesicular trafficking pathway regulating mitochondrial quality control publication-title: EMBO J. – volume: 4 start-page: 1582 year: 2009 end-page: 1590 ident: bib20 article-title: Isolation of mitochondria-associated membranes and mitochondria from animal tissues and cells publication-title: Nat. Protoc. – volume: 1843 start-page: 2012 year: 2014 end-page: 2026 ident: bib22 article-title: Functional interplay between Parkin and Drp1 in mitochondrial fission and clearance publication-title: Biochim. Biophys. Acta – volume: 31 start-page: 1336 year: 2012 end-page: 1349 ident: bib40 article-title: Mitochondrial quality control: a matter of life and death for neurons publication-title: EMBO J. – volume: 16 start-page: 1257 year: 2013 end-page: 1265 ident: bib5 article-title: The Parkinson’s disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy publication-title: Nat. Neurosci. – volume: 20 start-page: 1297 year: 2010 end-page: 1303 ident: bib12 article-title: The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data publication-title: Genome Res. – volume: 26 start-page: 589 year: 2010 end-page: 595 ident: bib11 article-title: Fast and accurate long-read alignment with Burrows-Wheeler transform publication-title: Bioinformatics – volume: 83 start-page: 9075 year: 1986 end-page: 9079 ident: bib34 article-title: Isolation of yeast mutants defective in protein targeting to the vacuole publication-title: Proc. Natl. Acad. Sci. USA – volume: 37 start-page: e67 year: 2009 ident: bib15 article-title: Human Splicing Finder: an online bioinformatics tool to predict splicing signals publication-title: Nucleic Acids Res. – volume: 85 start-page: 76 year: 2015 end-page: 87 ident: bib42 article-title: Parkinson’s disease genes VPS35 and EIF4G1 interact genetically and converge on α-synuclein publication-title: Neuron – volume: 14 start-page: 1188 year: 2004 end-page: 1190 ident: bib14 article-title: WebLogo: a sequence logo generator publication-title: Genome Res. – volume: 342 start-page: 1560 year: 2000 end-page: 1567 ident: bib2 article-title: Association between early-onset Parkinson’s disease and mutations in the parkin gene publication-title: N. Engl. J. Med. – volume: 288 start-page: C1440 year: 2005 end-page: C1450 ident: bib21 article-title: Inhibition of complex I of the electron transport chain causes O2-. -mediated mitochondrial outgrowth publication-title: Am. J. Physiol. Cell Physiol. – volume: 38 start-page: e164 year: 2010 ident: bib13 article-title: ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data publication-title: Nucleic Acids Res. – volume: 89 start-page: 168 year: 2011 end-page: 175 ident: bib36 article-title: A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease publication-title: Am. J. Hum. Genet. – volume: 286 start-page: 10814 year: 2011 end-page: 10824 ident: bib41 article-title: Mutant A53T alpha-synuclein induces neuronal death by increasing mitochondrial autophagy publication-title: J. Biol. Chem. – volume: 89 start-page: 162 year: 2011 end-page: 167 ident: bib35 article-title: VPS35 mutations in Parkinson disease publication-title: Am. J. Hum. Genet. – volume: 9 start-page: 1801 year: 2013 end-page: 1817 ident: bib17 article-title: The TOMM machinery is a molecular switch in PINK1 and PARK2/PARKIN-dependent mitochondrial clearance publication-title: Autophagy – volume: 64 start-page: 555 year: 2008 end-page: 565 ident: bib25 article-title: Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts publication-title: Ann. Neurol. – volume: 18 start-page: 769 year: 2011 end-page: 782 ident: bib27 article-title: Parkin is transcriptionally regulated by ATF4: evidence for an interconnection between mitochondrial stress and ER stress publication-title: Cell Death Differ. – volume: 72 start-page: 1359 year: 2003 end-page: 1369 ident: bib31 article-title: Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport publication-title: Am. J. Hum. Genet. – volume: 22 start-page: 1563 year: 2015 end-page: 1576 ident: bib19 article-title: Parkin maintains mitochondrial levels of the protective Parkinson’s disease-related enzyme 17-β hydroxysteroid dehydrogenase type 10 publication-title: Cell Death Differ. – volume: 70 start-page: 571 year: 2013 end-page: 579 ident: bib28 article-title: Parkin disease: a clinicopathologic entity? publication-title: JAMA Neurol. – volume: 98 start-page: 15294 year: 2001 end-page: 15299 ident: bib38 article-title: Different responses of astrocytes and neurons to nitric oxide: the role of glycolytically generated ATP in astrocyte protection publication-title: Proc. Natl. Acad. Sci. USA – volume: 27 start-page: 12413 year: 2007 end-page: 12418 ident: bib24 article-title: Loss-of-function of human PINK1 results in mitochondrial pathology and can be rescued by parkin publication-title: J. Neurosci. – volume: 6 start-page: 45 year: 2004 end-page: 51 ident: bib39 article-title: Nitric oxide switches on glycolysis through the AMP protein kinase and 6-phosphofructo-2-kinase pathway publication-title: Nat. Cell Biol. – volume: 55 start-page: 181 year: 1992 end-page: 184 ident: bib7 article-title: Accuracy of clinical diagnosis of idiopathic Parkinson’s disease: a clinico-pathological study of 100 cases publication-title: J. Neurol. Neurosurg. Psychiatry – volume: 18 start-page: 6097 year: 1990 end-page: 6100 ident: bib16 article-title: Sequence logos: a new way to display consensus sequences publication-title: Nucleic Acids Res. – volume: 28 start-page: 119 year: 2001 end-page: 120 ident: bib30 article-title: A conserved sorting-associated protein is mutant in chorea-acanthocytosis publication-title: Nat. Genet. – volume: 43 start-page: 40 year: 2012 end-page: 47 ident: bib32 article-title: Frameshift mutations of vacuolar protein sorting genes in gastric and colorectal cancers with microsatellite instability publication-title: Hum. Pathol. – volume: 73 start-page: 516 year: 2003 end-page: 523 ident: bib8 article-title: Estimation of the inbreeding coefficient through use of genomic data publication-title: Am. J. Hum. Genet. – volume: 39 start-page: 79 year: 1996 end-page: 88 ident: bib9 article-title: AD2, a phosphorylation-dependent monoclonal antibody directed against tau proteins found in Alzheimer’s disease publication-title: Brain Res. Mol. Brain Res. – volume: 84 start-page: 536 year: 2004 end-page: 549 ident: bib23 article-title: Analysis of the human VPS13 gene family publication-title: Genomics – volume: 27 start-page: 1868 year: 2007 end-page: 1878 ident: bib26 article-title: Parkin mediates neuroprotection through activation of IkappaB kinase/nuclear factor-kappaB signaling publication-title: J. Neurosci. – volume: 46 start-page: 989 year: 2014 end-page: 993 ident: bib43 article-title: Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson’s disease publication-title: Nat. Genet. – volume: 85 start-page: 257 year: 2015 end-page: 273 ident: bib4 article-title: The roles of PINK1, parkin, and mitochondrial fidelity in Parkinson’s disease publication-title: Neuron – volume: 20 start-page: S23 year: 2014 end-page: S28 ident: bib1 article-title: Genetics of Parkinson’s disease--state of the art, 2013 publication-title: Parkinsonism Relat. Disord. – volume: 9 start-page: 1372 year: 2008 end-page: 1391 ident: bib18 article-title: Substrate- and ubiquitin-dependent trafficking of the yeast siderophore transporter Sit1 publication-title: Traffic – volume: 20 start-page: 1297 year: 2010 ident: 10.1016/j.ajhg.2016.01.014_bib12 article-title: The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data publication-title: Genome Res. doi: 10.1101/gr.107524.110 – volume: 20 start-page: S23 issue: Suppl 1 year: 2014 ident: 10.1016/j.ajhg.2016.01.014_bib1 article-title: Genetics of Parkinson’s disease--state of the art, 2013 publication-title: Parkinsonism Relat. Disord. doi: 10.1016/S1353-8020(13)70009-9 – volume: 27 start-page: 1868 year: 2007 ident: 10.1016/j.ajhg.2016.01.014_bib26 article-title: Parkin mediates neuroprotection through activation of IkappaB kinase/nuclear factor-kappaB signaling publication-title: J. Neurosci. doi: 10.1523/JNEUROSCI.5537-06.2007 – volume: 18 start-page: 6097 year: 1990 ident: 10.1016/j.ajhg.2016.01.014_bib16 article-title: Sequence logos: a new way to display consensus sequences publication-title: Nucleic Acids Res. doi: 10.1093/nar/18.20.6097 – volume: 31 start-page: 1336 year: 2012 ident: 10.1016/j.ajhg.2016.01.014_bib40 article-title: Mitochondrial quality control: a matter of life and death for neurons publication-title: EMBO J. doi: 10.1038/emboj.2012.38 – volume: 55 start-page: 181 year: 1992 ident: 10.1016/j.ajhg.2016.01.014_bib7 article-title: Accuracy of clinical diagnosis of idiopathic Parkinson’s disease: a clinico-pathological study of 100 cases publication-title: J. Neurol. Neurosurg. Psychiatry doi: 10.1136/jnnp.55.3.181 – volume: 133 start-page: 1128 year: 2010 ident: 10.1016/j.ajhg.2016.01.014_bib29 article-title: PINK1-linked parkinsonism is associated with Lewy body pathology publication-title: Brain doi: 10.1093/brain/awq051 – volume: 37 start-page: e67 year: 2009 ident: 10.1016/j.ajhg.2016.01.014_bib15 article-title: Human Splicing Finder: an online bioinformatics tool to predict splicing signals publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkp215 – volume: 33 start-page: 282 year: 2014 ident: 10.1016/j.ajhg.2016.01.014_bib6 article-title: Parkin and PINK1 function in a vesicular trafficking pathway regulating mitochondrial quality control publication-title: EMBO J. – volume: 89 start-page: 168 year: 2011 ident: 10.1016/j.ajhg.2016.01.014_bib36 article-title: A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2011.06.008 – volume: 73 start-page: 516 year: 2003 ident: 10.1016/j.ajhg.2016.01.014_bib8 article-title: Estimation of the inbreeding coefficient through use of genomic data publication-title: Am. J. Hum. Genet. doi: 10.1086/378207 – volume: 70 start-page: 571 year: 2013 ident: 10.1016/j.ajhg.2016.01.014_bib28 article-title: Parkin disease: a clinicopathologic entity? publication-title: JAMA Neurol. doi: 10.1001/jamaneurol.2013.172 – volume: 85 start-page: 76 year: 2015 ident: 10.1016/j.ajhg.2016.01.014_bib42 article-title: Parkinson’s disease genes VPS35 and EIF4G1 interact genetically and converge on α-synuclein publication-title: Neuron doi: 10.1016/j.neuron.2014.11.027 – volume: 16 start-page: 1257 year: 2013 ident: 10.1016/j.ajhg.2016.01.014_bib5 article-title: The Parkinson’s disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy publication-title: Nat. Neurosci. doi: 10.1038/nn.3489 – volume: 84 start-page: 536 year: 2004 ident: 10.1016/j.ajhg.2016.01.014_bib23 article-title: Analysis of the human VPS13 gene family publication-title: Genomics doi: 10.1016/j.ygeno.2004.04.012 – volume: 26 start-page: 589 year: 2010 ident: 10.1016/j.ajhg.2016.01.014_bib11 article-title: Fast and accurate long-read alignment with Burrows-Wheeler transform publication-title: Bioinformatics doi: 10.1093/bioinformatics/btp698 – volume: 72 start-page: 1359 year: 2003 ident: 10.1016/j.ajhg.2016.01.014_bib31 article-title: Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport publication-title: Am. J. Hum. Genet. doi: 10.1086/375454 – volume: 39 start-page: 79 year: 1996 ident: 10.1016/j.ajhg.2016.01.014_bib9 article-title: AD2, a phosphorylation-dependent monoclonal antibody directed against tau proteins found in Alzheimer’s disease publication-title: Brain Res. Mol. Brain Res. doi: 10.1016/0169-328X(96)00003-4 – volume: 9 start-page: 1801 year: 2013 ident: 10.1016/j.ajhg.2016.01.014_bib17 article-title: The TOMM machinery is a molecular switch in PINK1 and PARK2/PARKIN-dependent mitochondrial clearance publication-title: Autophagy doi: 10.4161/auto.25884 – volume: 43 start-page: 40 year: 2012 ident: 10.1016/j.ajhg.2016.01.014_bib32 article-title: Frameshift mutations of vacuolar protein sorting genes in gastric and colorectal cancers with microsatellite instability publication-title: Hum. Pathol. doi: 10.1016/j.humpath.2010.03.015 – volume: 89 start-page: 162 year: 2011 ident: 10.1016/j.ajhg.2016.01.014_bib35 article-title: VPS35 mutations in Parkinson disease publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2011.06.001 – volume: 342 start-page: 1560 year: 2000 ident: 10.1016/j.ajhg.2016.01.014_bib2 article-title: Association between early-onset Parkinson’s disease and mutations in the parkin gene publication-title: N. Engl. J. Med. doi: 10.1056/NEJM200005253422103 – volume: 83 start-page: 9075 year: 1986 ident: 10.1016/j.ajhg.2016.01.014_bib34 article-title: Isolation of yeast mutants defective in protein targeting to the vacuole publication-title: Proc. Natl. Acad. Sci. USA doi: 10.1073/pnas.83.23.9075 – volume: 286 start-page: 10814 year: 2011 ident: 10.1016/j.ajhg.2016.01.014_bib41 article-title: Mutant A53T alpha-synuclein induces neuronal death by increasing mitochondrial autophagy publication-title: J. Biol. Chem. doi: 10.1074/jbc.M110.132514 – volume: 9 start-page: 1372 year: 2008 ident: 10.1016/j.ajhg.2016.01.014_bib18 article-title: Substrate- and ubiquitin-dependent trafficking of the yeast siderophore transporter Sit1 publication-title: Traffic doi: 10.1111/j.1600-0854.2008.00766.x – volume: 85 start-page: 257 year: 2015 ident: 10.1016/j.ajhg.2016.01.014_bib4 article-title: The roles of PINK1, parkin, and mitochondrial fidelity in Parkinson’s disease publication-title: Neuron doi: 10.1016/j.neuron.2014.12.007 – volume: 129 start-page: 686 year: 2006 ident: 10.1016/j.ajhg.2016.01.014_bib3 article-title: Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa publication-title: Brain doi: 10.1093/brain/awl005 – volume: 20 start-page: 1310 year: 2010 ident: 10.1016/j.ajhg.2016.01.014_bib37 article-title: Vps35 mediates vesicle transport between the mitochondria and peroxisomes publication-title: Curr. Biol. doi: 10.1016/j.cub.2010.05.066 – volume: 18 start-page: 769 year: 2011 ident: 10.1016/j.ajhg.2016.01.014_bib27 article-title: Parkin is transcriptionally regulated by ATF4: evidence for an interconnection between mitochondrial stress and ER stress publication-title: Cell Death Differ. doi: 10.1038/cdd.2010.142 – volume: 46 start-page: 989 year: 2014 ident: 10.1016/j.ajhg.2016.01.014_bib43 article-title: Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson’s disease publication-title: Nat. Genet. doi: 10.1038/ng.3043 – volume: 27 start-page: 12413 year: 2007 ident: 10.1016/j.ajhg.2016.01.014_bib24 article-title: Loss-of-function of human PINK1 results in mitochondrial pathology and can be rescued by parkin publication-title: J. Neurosci. doi: 10.1523/JNEUROSCI.0719-07.2007 – volume: 4 start-page: 1582 year: 2009 ident: 10.1016/j.ajhg.2016.01.014_bib20 article-title: Isolation of mitochondria-associated membranes and mitochondria from animal tissues and cells publication-title: Nat. Protoc. doi: 10.1038/nprot.2009.151 – volume: 288 start-page: C1440 year: 2005 ident: 10.1016/j.ajhg.2016.01.014_bib21 article-title: Inhibition of complex I of the electron transport chain causes O2-. -mediated mitochondrial outgrowth publication-title: Am. J. Physiol. Cell Physiol. doi: 10.1152/ajpcell.00607.2004 – volume: 98 start-page: 15294 year: 2001 ident: 10.1016/j.ajhg.2016.01.014_bib38 article-title: Different responses of astrocytes and neurons to nitric oxide: the role of glycolytically generated ATP in astrocyte protection publication-title: Proc. Natl. Acad. Sci. USA doi: 10.1073/pnas.261560998 – volume: 31 start-page: 741 year: 2012 ident: 10.1016/j.ajhg.2016.01.014_bib10 article-title: Clinical, neuropathological, and biochemical characterization of the novel tau mutation P332S publication-title: J. Alzheimers Dis. doi: 10.3233/JAD-2012-120160 – volume: 14 start-page: 1188 year: 2004 ident: 10.1016/j.ajhg.2016.01.014_bib14 article-title: WebLogo: a sequence logo generator publication-title: Genome Res. doi: 10.1101/gr.849004 – volume: 22 start-page: 1563 year: 2015 ident: 10.1016/j.ajhg.2016.01.014_bib19 article-title: Parkin maintains mitochondrial levels of the protective Parkinson’s disease-related enzyme 17-β hydroxysteroid dehydrogenase type 10 publication-title: Cell Death Differ. doi: 10.1038/cdd.2014.224 – volume: 64 start-page: 555 year: 2008 ident: 10.1016/j.ajhg.2016.01.014_bib25 article-title: Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts publication-title: Ann. Neurol. doi: 10.1002/ana.21492 – volume: 15 start-page: 1197 year: 2004 ident: 10.1016/j.ajhg.2016.01.014_bib33 article-title: Mammalian late vacuole protein sorting orthologues participate in early endosomal fusion and interact with the cytoskeleton publication-title: Mol. Biol. Cell doi: 10.1091/mbc.e03-06-0358 – volume: 1843 start-page: 2012 year: 2014 ident: 10.1016/j.ajhg.2016.01.014_bib22 article-title: Functional interplay between Parkin and Drp1 in mitochondrial fission and clearance publication-title: Biochim. Biophys. Acta doi: 10.1016/j.bbamcr.2014.05.012 – volume: 6 start-page: 45 year: 2004 ident: 10.1016/j.ajhg.2016.01.014_bib39 article-title: Nitric oxide switches on glycolysis through the AMP protein kinase and 6-phosphofructo-2-kinase pathway publication-title: Nat. Cell Biol. doi: 10.1038/ncb1080 – volume: 28 start-page: 119 year: 2001 ident: 10.1016/j.ajhg.2016.01.014_bib30 article-title: A conserved sorting-associated protein is mutant in chorea-acanthocytosis publication-title: Nat. Genet. doi: 10.1038/88821 – volume: 38 start-page: e164 year: 2010 ident: 10.1016/j.ajhg.2016.01.014_bib13 article-title: ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkq603 – reference: 27213732 - Mov Disord. 2016 Sep;31(9):1340. doi: 10.1002/mds.26682.
SSID	ssj0011803
Score	2.6240318
Snippet	Autosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50% of autosomal-recessive...
SourceID	pubmedcentral hal proquest pubmed crossref elsevier
SourceType	Open Access Repository Aggregation Database Index Database Enrichment Source Publisher
StartPage	500
SubjectTerms	Adult Aged Animals Case-Control Studies Consanguinity COS Cells Female Gene Silencing Genetic Heterogeneity HEK293 Cells Heterozygote Homozygote Humans Life Sciences Male Middle Aged Mitophagy - genetics Neurons and Cognition 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
Title	Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
URI	https://dx.doi.org/10.1016/j.ajhg.2016.01.014 https://www.ncbi.nlm.nih.gov/pubmed/26942284 https://www.proquest.com/docview/1770876571 https://www.proquest.com/docview/1790975826 https://hal.sorbonne-universite.fr/hal-01289266 https://pubmed.ncbi.nlm.nih.gov/PMC4800038
Volume	98
hasFullText	1
inHoldings	1
isFullTextHit
isPrint
link	http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1db9MwFLW2SUi8IL7JNiaDeENR7dr5eiwdpcCYJsFQ3ywnttdMW1KRdlJ_A3-ae52koiD6gFQpTWLHSXx974l87jEhb3iGGumGhVEs8lAWLochlUhUwhSFhpCptSfInsfTS_lpFs32yLjPhUFaZef7W5_uvXV3ZNC9zcGiLDHHlw0huAPg95nRqPgpYINJfLN3m5kEnjLRQ2As3SXOtBwvfT2_QnpX7KU7ufxXcNqfI0vybwj6J5Pyt9A0eUgedJiSjtrbfkT2bPWY3GtXmVw_IT_PoC1aO_r94isXYzqBUIbdQcuKjlbLuqlv9U0I-BEZsXeWYiK0zwkrm1s61qvGNvQLDHxwlJVBe6Wn68b1F9GVoeBkkNsO5S4-nn_mg_YK4Wm3wO7SV1_M9dX6KbmcvP82nobdGgxhETEhQ50JZnUsAUU6yWXiohz1gGKnh4VmBv4X2hV5ZmItDUcxM47ShkwUxskUsMIzclDVlX1BKLfWiSyNtU1iGRUmz8EULLPGMJsYmQaE9y9fFZ1AOa6TcaN6Jtq1wg5T2GGKcfjJgLzd1Fm08hw7S0d9n6otI1MQP3bWew0GsGkAFbmnozOFxzC-ZwBy7nhAXvX2oWCI4ryLrmy9ahRPEhT-i5KdZTKWwbfbMA7I89amNu1hsvEQYERAki1r27qh7TNVOfdS4TL1c7-H__ngR-Q-7nnOnTgmB8sfK_sSQNgyPyH7H2b8xI-1X276MIQ
linkProvider	Elsevier
linkToHtml	http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1db9MwFLW2IQQviM8RGGAQbyiqXTtfj123qoNumsSG-mY5sbNm2pKKtJP6G_jT3OskFR2iD0h5iBI7TuPre0_lc88l5DNPUCPdMD8IRerLLE9hSUUSlTBFpiFkau0Ismfh-FJ-nQbTHTLscmGQVtn6_sanO2_dXum1X7M3LwrM8WV9CO4A-F1mtNglDwANRFi_4WR6uN5K4DETHQbG5m3mTEPy0tezK-R3hU67k8t_RafdGdIk_8ag96mUf8Sm0VPypAWVdNC89zOyY8vn5GFTZnL1gvyawFi0yumP8-9cDOkIYhnOBy1KOlguqrq61Tc-AEikxN5ZipnQLimsqG_pUC9rW9NTWPngKUuDBkuPVnXePUSXhoKXQXI7tDs_OfvGe80T_KO2wu7CdZ_P9NXqJbkcHV8Mx35bhMHPAiakrxPBrA4lwMhcchnlQYqCQGGu-5lmBs4znWdpYkItDUc1M47ahkxkJpcxgIVXZK-sSvuaUG5tLpI41DYKZZCZNAVbsMwaw2xkZOwR3n18lbUK5Vgo40Z1VLRrhROmcMIU43BIj3xZ95k3-hxbWwfdnKoNK1MQQLb2-wQGsB4AJbnHg4nCaxjgE0A5d9wjHzv7ULBGceNFl7Za1opHESr_BdHWNglL4M9bP_TIfmNT6_Ew27gPOMIj0Ya1bbzQ5p2ymDmtcBm7zd83__nDP5BH44vTiZqA8bwlj_GOI-CJA7K3-Lm07wCRLdL3bsX9BoaXMrI
openUrl	ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Loss+of+VPS13C+Function+in+Autosomal-Recessive+Parkinsonism+Causes+Mitochondrial+Dysfunction+and+Increases+PINK1%2FParkin-Dependent+Mitophagy&rft.jtitle=American+journal+of+human+genetics&rft.au=Lesage%2C+Suzanne&rft.au=Drouet%2C+Val%C3%A9rie&rft.au=Majounie%2C+Elisa&rft.au=Deramecourt%2C+Vincent&rft.date=2016-03-03&rft.pub=Elsevier+%28Cell+Press%29&rft.issn=0002-9297&rft.eissn=1537-6605&rft.volume=98&rft.issue=3&rft_id=info:doi/10.1016%2Fj.ajhg.2016.01.014&rft.externalDBID=HAS_PDF_LINK&rft.externalDocID=oai_HAL_hal_01289266v1
thumbnail_l	http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0002-9297&client=summon
thumbnail_m	http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0002-9297&client=summon
thumbnail_s	http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0002-9297&client=summon