المؤلفون: Holstege, Henne, Hulsman, Marc, Charbonnier, Camille, Grenier-Boley, Benjamin, Quenez, Olivier, Grozeva, Detelina, van Rooij, Jeroen GJ, Sims, Rebecca, Ahmad, Shahzad, Amin, Najaf, Norsworthy, Penny J, Dols-Icardo, Oriol, Hummerich, Holger, Kawalia, Amit, Amouyel, Philippe, Beecham, Gary W, Berr, Claudine, Bis, Joshua C, Boland, Anne, Bossù, Paola, Bouwman, Femke, Bras, Jose, Campion, Dominique, Cochran, J Nicholas, Daniele, Antonio, Dartigues, Jean-François, Debette, Stéphanie, Deleuze, Jean-François, Denning, Nicola, DeStefano, Anita L, Farrer, Lindsay A, Fernández, Maria Victoria, Fox, Nick C, Galimberti, Daniela, Genin, Emmanuelle, Gille, Johan JP, Le Guen, Yann, Guerreiro, Rita, Haines, Jonathan L, Holmes, Clive, Ikram, M Arfan, Ikram, M Kamran, Jansen, Iris E, Kraaij, Robert, Lathrop, Marc, Lemstra, Afina W, Lleó, Alberto, Luckcuck, Lauren, Mannens, Marcel MAM, Marshall, Rachel, Martin, Eden R, Masullo, Carlo, Mayeux, Richard, Mecocci, Patrizia, Meggy, Alun, Mol, Merel O, Morgan, Kevin, Myers, Richard M, Nacmias, Benedetta, Naj, Adam C, Napolioni, Valerio, Pasquier, Florence, Pastor, Pau, Pericak-Vance, Margaret A, Raybould, Rachel, Redon, Richard, Reinders, Marcel JT, Richard, Anne-Claire, Riedel-Heller, Steffi G, Rivadeneira, Fernando, Rousseau, Stéphane, Ryan, Natalie S, Saad, Salha, Sanchez-Juan, Pascual, Schellenberg, Gerard D, Scheltens, Philip, Schott, Jonathan M, Seripa, Davide, Seshadri, Sudha, Sie, Daoud, Sistermans, Erik A, Sorbi, Sandro, van Spaendonk, Resie, Spalletta, Gianfranco, Tesi, Niccolo’, Tijms, Betty, Uitterlinden, André G, van der Lee, Sven J, Visser, Pieter Jelle, Wagner, Michael, Wallon, David, Wang, Li-San, Zarea, Aline, Clarimon, Jordi, van Swieten, John C, Greicius, Michael D, Yokoyama, Jennifer S, Cruchaga, Carlos, Hardy, John, Ramirez, Alfredo

المصدر: Nature Genetics. 54(12)

مصطلحات موضوعية: Biological Sciences, Genetics, Dementia, Alzheimer's Disease, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Human Genome, Prevention, Acquired Cognitive Impairment, Neurodegenerative, Aging, Clinical Research, Biotechnology, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Humans, Adenosine Triphosphatases, Alzheimer Disease, ATP Binding Cassette Transporter 1, Genome-Wide Association Study, Risk Factors, Exosomes, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3cr7x044
https://escholarship.org/content/qt3cr7x044/qt3cr7x044.pdf

المؤلفون: Schramm, Catherine, Charbonnier, Camille, Zaréa, Aline, Lacour, Morgane, Wallon, David, Andriuta, Daniela, Anthony, Pierre, Auriacombe, Sophie, Balageas, Anna-Chloé, Ballan, Guillaume, Barbay, Mélanie, Beaufils, Emilie, Béjot, Yannick, Belliard, Serge, Benaiteau, Marie, Bennys, Karim, Blanc, Frédéric, Bombois, Stéphanie, Boutoleau Bretonnière, Claire, Branger, Pierre, Carlier, Jasmine, Cartz-Piver, Leslie, Cassagnaud, Pascaline, Castelnovo, Giovanni, Champion, Christine, Chaussenot, Annabelle, Ceccaldi, Mathieu, Chauviré, Valérie, Chen, Yaohua, Cogez, Julien, Cognat, Emmanuel, Contegal-Callier, Fabienne, Corneille, Lea, Couratier, Philippe, Courtemanche, Hélène, Cretin, Benjamin, Crinquette, Charlotte, Croisille, Bernard, Dauriat, Benjamin, Dautricourt, Sophie, de la Sayette, Vincent, de Liège, Astrid, de Verdal, Marie, Deffond, Didier, Génin, Emmanuelle, Delpont, Benoit, Demurger, Florence, Deramecourt, Vincent, Derollez, Céline, Didic, Mira, Diemert, Giulia, Dionet, Elsa, Diraison, Philippe, Doan, Aude, Doco Fenzy, Martine, Dufournet, Boris, Dumurgier, Julien, Durand, Hélène, Dutray, Anaïs, Etcharry-Bouyx, Frédérique, Formaglio, Maïté, Gabelle, Audrey, Gainche-Salmon, Anne, Getenet, Jean-Claude, Ginglinger, Emmanuelle, Godefroy, Olivier, Graber, Mathilde, Gregoire, Chloé, Grimaldi, Stephan, Gueniat, Julien, Gueriot, Claude, Haffen, Sophie, Hamelin, Lorraine, Hannequin, Didier, Hanta, Cezara, Hardy, Clémence, Hautecloque, Geoffroy, Heitz, Camille, Hourregue, Claire, Jonveaux, Thérèse, Jurici, Snejana, Khoumri, Catia, Koric, Lejla, Krolak-Salmon, Pierre, Labauge, Pierre, Lagarde, Julien, Lanoiselée, Hélène-Marie, Laurens, Brice, Le Ber, Isabelle, Le Guyader, Gwenaël, Leblanc, Amélie, Lebouvier, Thibaud, Lippi, Anaïs, Mackowiak, Marie-Anne, Magnin, Eloi, Marelli, Cecilia, Martinaud, Olivier, Maureille, Aurélien, Milongo-Rigal, Emilie, Mohr, Sophie, Mollion, Hélène, Moreaud, Olivier, Morin, Alexandre, Nicolas, Gaël, Nivelle, Julia, Noiray, Camille, Ollagnon-Roman, Elisabeth, Paquet, Claire, Pariente, Jérémie, Pasquier, Florence, Perron, Alexandre, Philippi, Nathalie, Pichon, Virginie, Planche, Vincent, Poirsier, Céline, Rafiq, Marie, Rod-Olivieri, Pauline, Rollin-Sillaire, Adeline, Roué-Jagot, Carole, Saracino, Dario, Sarazin, Marie, Sauvée, Mathilde, Sellal, François, Sirven Villaros, Lila, Thauvin, Christel, Tisserand, Camille, Tomasino, Christophe, Turpinat, Cédric, van Damme, Laurène, Vercruysse, Olivier, Voilly, Alice, Wagemann, Nathalie, Zarea, Aline, Boland, Anne, Deleuze, Jean-François, Olaso, Robert, Ahmad, Shahzad, Amouyel, Philippe, Berr, Claudine, Bossu, Paola, Bouwman, Femke, Bras, Jose, Campion, Dominique, Clarimon, Jordi, Daniele, Antonio, Dartigues, Jean-François, Debette, Stéphanie, Denning, Nicola, Dols-Icardo, Oriol, Fox, Nick, Galimberti, Daniela, Gille, Hans, Grenier-Boley, Benjamin, Grozeva, Detelina, Guerreiro, Rita, Hardy, John, Holmes, Clive, Holstege, Henne, Hulsman, Marc, Hummerich, Holger, Ikram, M. Arfan, Ikram, M. Kamran, Jansen, Iris, Kawalia, Amit, Kraaij, Robert, Lambert, Jean-Charles, Lathrop, Marc, Lemstra, Afina, Lleo, Alberto, Luckcuck, Lauren, Mannens, Marcel, Marshall, Rachel, Masullo, Carlo, Mead, Simon, Mecocci, Patrizia, Meggy, Alun, Mol, Merel, Morgan, Kevin, Nacmias, Benedetta, Norsworthy, Penny, Pastor, Pau, Quenez, Olivier, Ramirez, Alfredo, Raybould, Rachel, Redon, Richard, Reinders, Marcel, Richard, Anne-Claire, Riedel-Heller, Steffi, Rivadeneira, Fernando, Rousseau, Stéphane, Ryan, Natalie, Saad, Salha, Sanchez-Juan, Pascual, Scheltens, Philip, Schott, Jonathan, Seripa, Davide, Sie, Daoud, Sims, Rebecca, Sistermans, Erik, Sorbi, Sandro, van Spaendonk, Resie, Spalleta, Gianfranco, Tesi, Nicćolo, Tijms, Betty, Uitterlinden, André, van der Flier, Wiesje, van der Lee, Sven, van Duijn, Cornelia, van Rooij, Jeroen, van Swieten, John, de Visser, Pieter, Wagner, Michael, Williams, Julie, Alarcon, Flora, Nuel, Grégory

المساهمون: Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Rouen, Normandie Université (NU), Service de neurologie Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Normandie Université (NU)-Normandie Université (NU), CHU Amiens-Picardie, Laboratoire de Neurosciences Fonctionnelles et Pathologies - UR UPJV 4559 (LNFP), Université de Picardie Jules Verne (UPJV), Centre national de référence pour les malades Alzheimer jeunes (CNRMAJ), Institut des Maladies Neurodégénératives Bordeaux (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), CHU Trousseau Tours, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre Hospitalier de la Côte Basque (CHCB), Université de Bourgogne (UB), Université Lille Nord (France), AP-HP - Hôpital Cochin Broca Hôtel Dieu Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Santé publique France - French National Public Health Agency Saint-Maurice, France, Obstetrical, Perinatal and Pediatric Epidemiology, Centre for Research in Epidemiology and Statistics, Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Université Paris Descartes, Sorbonne Paris Cité, Service de Neurologie CHU Rennes, Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Pontchaillou, Département Neurologie CHU Toulouse, Pôle Neurosciences CHU Toulouse, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Département de neurologie Montpellier, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Hôpital Gui de Chauliac CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Université de Montpellier (UM), Centre Hospitalier Universitaire Strasbourg (CHU Strasbourg), Les Hôpitaux Universitaires de Strasbourg (HUS), Laboratoire des sciences de l'ingénieur, de l'informatique et de l'imagerie (ICube), École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Université de Strasbourg (UNISTRA)-Les Hôpitaux Universitaires de Strasbourg (HUS)-Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Centre National de la Recherche Scientifique (CNRS)-Matériaux et Nanosciences Grand-Est (MNGE), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie - CNRS Chimie (INC-CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie - CNRS Chimie (INC-CNRS)-Centre National de la Recherche Scientifique (CNRS)-Réseau nanophotonique et optique, Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Centre Mémoire Ressources et Recherche Strasbourg (CMRR Strasbourg), Les Hôpitaux Universitaires de Strasbourg (HUS)-Les Hôpitaux Universitaires de Strasbourg (HUS), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Hôpital Côte de Nacre CHU Caen, CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Epidémiologie des Maladies Chroniques en zone tropicale (EpiMaCT), Institut de Recherche pour le Développement (IRD)-CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM)-OmégaHealth (ΩHealth), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Mathématiques Appliquées Paris 5 (MAP5 - UMR 8145), Institut National des Sciences Mathématiques et de leurs Interactions - CNRS Mathématiques (INSMI-CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), ANR-10-INBS-0009,France Génomique,Organisation et montée en puissance d'une Infrastructure Nationale de Génomique(2010)

المصدر: ISSN: 1756-994X ; Genome Medicine ; https://hal.science/hal-03971905 ; Genome Medicine, 2022, 14 (1), pp.69. ⟨10.1186/s13073-022-01070-6⟩.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio], [STAT]Statistics [stat]

الاتاحة: https://hal.science/hal-03971905
https://hal.science/hal-03971905v1/document
https://hal.science/hal-03971905v1/file/Article-Schramm-Genome-Medicine-2022.pdf
https://doi.org/10.1186/s13073-022-01070-6

المؤلفون: Hung, Christy, Tuck, Eleanor, Stubbs, Victoria, van der Lee, Sven J., Aalfs, Cora, van Spaendonk, Resie, Scheltens, Philip, Hardy, John, Holstege, Henne, Livesey, Frederick J.

المصدر: Hung , C , Tuck , E , Stubbs , V , van der Lee , S J , Aalfs , C , van Spaendonk , R , Scheltens , P , Hardy , J , Holstege , H & Livesey , F J 2021 , ' SORL1 deficiency in human excitatory neurons causes APP-dependent defects in the endolysosome-autophagy network ' , Cell Reports , vol. 35 , no. 11 , 109259 . https://doi.org/10.1016/j.celrep.2021.109259

الاتاحة: https://research.vumc.nl/en/publications/64053ab8-a8c5-4e83-b861-2630dac3aab8
https://doi.org/10.1016/j.celrep.2021.109259
http://www.scopus.com/inward/record.url?scp=85107990896&partnerID=8YFLogxK

المؤلفون: Mol, Merel O., Nijmeijer, Sebastiaan W. R., van Rooij, Jeroen G. J., van Spaendonk, Resie M. L., Pijnenburg, Yolande A. L., van der Lee, Sven J., van Minkelen, Rick, Donker Kaat, Laura, Rozemuller, Annemieke J. M., Janse van Mantgem, Mark R., van Rheenen, Wouter, van Es, Michael A., Veldink, Jan H., Hennekam, Frederic A. M., Vernooij, Meike, van Swieten, John C., Cohn-Hokke, Petra E., Seelaar, Harro, Dopper, Elise G. P.

المصدر: Mol , M O , Nijmeijer , S W R , van Rooij , J G J , van Spaendonk , R M L , Pijnenburg , Y A L , van der Lee , S J , van Minkelen , R , Donker Kaat , L , Rozemuller , A J M , Janse van Mantgem , M R , van Rheenen , W , van Es , M A , Veldink , J H , Hennekam , F A M , Vernooij , M , van Swieten , J C , Cohn-Hokke , P E , Seelaar ....

الاتاحة: https://research.vumc.nl/en/publications/3d26519a-e00d-4bc4-8237-f3a1e2dd809c
https://doi.org/10.1136/jnnp-2020-325150
http://www.scopus.com/inward/record.url?scp=85099601593&partnerID=8YFLogxK

المؤلفون: Mol, Merel O, Nijmeijer, Sebastiaan W R, van Rooij, Jeroen G J, van Spaendonk, Resie M L, Pijnenburg, Yolande A L, van der Lee, Sven J, van Minkelen, Rick, Donker Kaat, Laura, Rozemuller, Annemieke J M, Janse van Mantgem, Mark R, van Rheenen, Wouter, van Es, Michael A, Veldink, Jan H, Hennekam, Frederic A M, Vernooij, Meike, van Swieten, John C, Cohn-Hokke, Petra E, Seelaar, Harro, Dopper, Elise G P

المساهمون: Pathologie, Projectafdeling ALS, Projectafdeling SvS, Neurologen, Brain, Genetica Klinische Genetica

مصطلحات موضوعية: frontotemporal dementia, neurogenetics, neuropathology, neuroradiology, Clinical Neurology, Psychiatry and Mental health, Surgery, Letter

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/441974

الاتاحة: https://dspace.library.uu.nl/handle/1874/441974

المؤلفون: Holstege, Henne, Hulsman, Marc, Charbonnier, Camille, Grenier-Boley, Benjamin, Quenez, Olivier, Grozeva, Detelina, van Rooij, Jeroen, Sims, Rebecca, Ahmad, Shahzad, Amin, Najaf, Norsworthy, Penny, Dols-Icardo, Oriol, Hummerich, Holger, Kawalia, Amit, Amouyel, Philippe, Beecham, Gary, Berr, Claudine, Bis, Joshua, Boland, Anne, Bossu, Paola, Bouwman, Femke, Bras, Jose, Campion, Dominique, Cochran, Jesse Nicholas, Daniele, Antonio, Dartigues, Jean-Francois, Debette, Stephanie, Deleuze, Jean-Francois, Denning, Nicola, Destefano, Anita, Farrer, Lindsay, Fernandez, Maria-Victoria, Fox, Nick, Galimberti, Daniela, Genin, Emmanuelle, Gille, Johan JP, Le Guen, Yann, Guerreiro, Rita, Haines, Jonathan, Holmes, Clive, Ikram, M. Arfan, Ikram, M. Kamran, Jansen, Iris E., Kraaij, Robert, Lathrop, Mark, Lemstra, Afina W., Lleo, Alberto, Luckcuck, Lauren, Mannens, Marcel M.A.M., Marschall, Rachel, Martin, Eden, Masullo, Carlo, Mayeux, Richard, Mecocci, Patrizia, Meggy, Alun, Mol, Merel, Morgan, Kevin, Myers, Richard M., Nacmias, Benedetta, Naj, Adam, Napolioni, Valerio, Pasquier, Florence, Pastor, Pau, Pericak-Vance, Margaret, Raybould, Rachel, Redon, Richard, Reinders, Marcel J.T., Richard, Anne-Claire, Riedel-Heller, Steffi, Rivadeneira, Fernando, Rousseau, Stephane, Ryan, Natalie, Saad, Salha, Sanchez-Juan, Pascual, Schellenberg, Gerard, Scheltens, Philip, Schott, Jonathan M., Seripa, Davide, Seshadri, Sudha, Sie, Daoud, Sistermans, Erik A, Sorbi, Sandro, van Spaendonk, Resie, Spalletta, Gianfranco, Tesi, Niccolo, Tijms, Betty, Uitterlinden, Andre, van der Lee, Sven, Wagner, Michael, Wallon, David, Wang, Li San, Zarea, Aline, Clarimon, Jordi, van Swieten, John, Greicius, Michael D., Yokoyama, Jennifer S., Cruchaga, Carlos, Hardy, John, Ramirez, Alfredo, Mead, Simon H, van der Flier, Wiesje, van Duijn, Cornelia, Williams, Julie, Nicolas, Gael, Bellenguez, Celine, Lambert, Jean-Charles

Relation: https://nottingham-repository.worktribe.com/output/7352699

الاتاحة: https://nottingham-repository.worktribe.com/file/7352699/1/Exome%20sequencing%20identifies%20rare%20damaging%20variants%20in%20ATP8B4%20and%20ABCA1%20as%20novel%20risk%20factors%20for%20Alzheimer%E2%80%99s%20Disease
https://nottingham-repository.worktribe.com/output/7352699

المؤلفون: Seret, Guillaume, Hulsman, Marc, Charbonnier, Camille, Grenier-Boley, Benjamin, Quenez, Olivier, Grozeva, Detelina, van Rooij, Jeroen G.J., Sims, Rebecca, Ahmad, Shahzad, Amin, Najaf, Norsworthy, Penny, Dols-Icardo, Oriol, Hummerich, Holger, Kawalia, Amit, Amouyel, Philippe, Beecham, Gary, Berr, Claudine, Bis, Joshua, Boland, Anne, Bossù, Paola, Bouwman, Femke, Bras, Jose, Campion, Dominique, Cochran, J. Nicholas, Daniele, Antonio, Dartigues, Jean-François, Debette, Stéphanie, Deleuze, Jean-François, Denning, Nicola, Destefano, Anita, Farrer, Lindsay, Fernandez, Maria Victoria, Fox, Nick, Galimberti, Daniela, Genin, Emmanuelle, Gille, Hans, Guen, Yann Le, Guerreiro, Rita, Haines, Jonathan, Holmes, Clive, Ikram, M. Arfan, Ikram, M. Kamran, Jansen, Iris, Kraaij, Robert, Lathrop, Marc, Lemstra, Afina, Lleó, Alberto, Luckcuck, Lauren, Mannens, Marcel, Marshall, Rachel, Martin, Eden, Masullo, Carlo, Mayeux, Richard, Mecocci, Patrizia, Meggy, Alun, Mol, Merel, Morgan, Kevin, Myers, Richard, Nacmias, Benedetta, Naj, Adam, Napolioni, Valerio, Pasquier, Florence, Pastor, Pau, Pericak-Vance, Margaret, Raybould, Rachel, Redon, Richard, Reinders, Marcel J.T., Richard, Anne-Claire, Riedel-Heller, Steffi, Rivadeneira, Fernando, Rousseau, Stéphane, Ryan, Natalie, Saad, Salha, Sanchez-Juan, Pascual, Schellenberg, Gerard, Scheltens, Philip, Schott, Jonathan, Seripa, Davide, Seshadri, Sudha, Sie, Daoud, Sistermans, Erik, Sorbi, Sandro, van Spaendonk, Resie, Spalletta, Gianfranco, Tesi, Niccólo, Tijms, Betty, Uitterlinden, André, van der Lee, Sven, de Visser, Pieter Jelle, Wagner, Michael, Wallon, David, Wang, Li-San, Zarea, Aline, Clarimon, Jordi, van Swieten, John, Greicius, Michael, Yokoyama, Jennifer, Cruchaga, Carlos, Hardy, John, Ramirez, Alfredo, Mead, Simon, van der Flier, Wiesje, van Duijn, Cornelia, Williams, Julie, Nicolas, Gaël, Bellenguez, Céline, Lambert, Jean-Charles

المساهمون: Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)

المصدر: https://hal.science/hal-03706764 ; 2022.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

Relation: MEDRXIV: 2020.07.22.20159251

الاتاحة: https://hal.science/hal-03706764
https://doi.org/10.1101/2020.07.22.20159251

المؤلفون: Hung, Christy (author), Tuck, Eleanor (author), Stubbs, Victoria (author), van der Lee, S.J. (author), Aalfs, Cora (author), van Spaendonk, Resie (author), Scheltens, Philip (author), Hardy, John (author), Holstege, H. (author)

مصطلحات الفهرس: Alzheimer's disease, amyloid precursor protein, autophagy, endosome, iPSC, lysosome, SORL1, journal article

URL: http://resolver.tudelft.nl/uuid:5629b871-9ff3-40b7-9665-063925413163
http://www.scopus.com/inward/record.url?scp=85107990896&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85107990896&partnerID=8YFLogxK
Cell Reports--2211-1247--fcd67c16-457c-40cf-b1b0-3efe4c638fb1

المؤلفون: Pathologie, Projectafdeling ALS, Projectafdeling SvS, Neurologen, Brain, Genetica Klinische Genetica, Mol, Merel O, Nijmeijer, Sebastiaan W R, van Rooij, Jeroen G J, van Spaendonk, Resie M L, Pijnenburg, Yolande A L, van der Lee, Sven J, van Minkelen, Rick, Donker Kaat, Laura, Rozemuller, Annemieke J M, Janse van Mantgem, Mark R, van Rheenen, Wouter, van Es, Michael A, Veldink, Jan H, Hennekam, Frederic A M, Vernooij, Meike, van Swieten, John C, Cohn-Hokke, Petra E, Seelaar, Harro, Dopper, Elise G P

URL: https://doi.org/10.1136/jnnp-2020-325150
http://hdl.handle.net/1874/441974
https://dspace.library.uu.nl/handle/1874/441974
http://www.scopus.com/inward/record.url?scp=85099601593&partnerID=8YFLogxK
0022-3050
Journal of neurology, neurosurgery, and psychiatry
92
7
787
789

المؤلفون: Biancheri, Roberta, Zara, Federico, Rossi, Andrea, Mathot, Mikael, Nassogne, Marie Cecile, Yalcinkaya, Cengiz, Erturk, Ozdem, Tuysuz, Behyan, Di Rocco, Maja, Gazzerro, Elisabetta, Bugiani, Marianna, van Spaendonk, Resie, Sistermans, Erik A., Minetti, Carlo, van der Knaap, Marjo S., Wolf, Nicole I.

المصدر: Archives of Neurology ; volume 68, issue 9, page 1191 ; ISSN 0003-9942

الاتاحة: http://dx.doi.org/10.1001/archneurol.2011.201
https://jamanetwork.com/journals/jamaneurology/articlepdf/1107859/nob05038_1191_1194_1678139656.0844.pdf

المؤلفون: Holstege, Henne, Hulsman, Marc, Charbonnier, Camille, Grenier-Boley, Benjamin, Quenez, Olivier, Grozeva, Detelina, van Rooij, Jeroen G. J., Sims, Rebecca, Ahmad, Shahzad, Amin, Najaf, Norsworthy, Penny J., Dols-Icardo, Oriol, Hummerich, Holger, Kawalia, Amit, Amouyel, Philippe, Beecham, Gary W., Berr, Claudine, Bis, Joshua C., Boland, Anne, Bossù, Paola, Bouwman, Femke, Bras, Jose, Campion, Dominique, Cochran, J. Nicholas, Daniele, Antonio, Dartigues, Jean-François, Debette, Stéphanie, Deleuze, Jean-François, Denning, Nicola, DeStefano, Anita L., Farrer, Lindsay A., Fernández, Maria Victoria, Fox, Nick C., Galimberti, Daniela, Genin, Emmanuelle, Gille, Johan J. P., Le Guen, Yann, Guerreiro, Rita, Haines, Jonathan L., Holmes, Clive, Ikram, M. Arfan, Ikram, M. Kamran, Jansen, Iris E., Kraaij, Robert, Lathrop, Marc, Lemstra, Afina W., Lleó, Alberto, Luckcuck, Lauren, Mannens, Marcel M. A. M., Marshall, Rachel, Martin, Eden R., Masullo, Carlo, Mayeux, Richard, Mecocci, Patrizia, Meggy, Alun, Mol, Merel O., Morgan, Kevin, Myers, Richard M., Nacmias, Benedetta, Naj, Adam C., Napolioni, Valerio, Pasquier, Florence, Pastor, Pau, Pericak-Vance, Margaret A., Raybould, Rachel, Redon, Richard, Reinders, Marcel J. T., Richard, Anne-Claire, Riedel-Heller, Steffi G., Rivadeneira, Fernando, Rousseau, Stéphane, Ryan, Natalie S., Saad, Salha, Sanchez-Juan, Pascual, Schellenberg, Gerard D., Scheltens, Philip, Schott, Jonathan M., Seripa, Davide, Seshadri, Sudha, Sie, Daoud, Sistermans, Erik A., Sorbi, Sandro, van Spaendonk, Resie, Spalletta, Gianfranco, Tesi, Niccolo’, Tijms, Betty, Uitterlinden, André G., van der Lee, Sven J., Visser, Pieter Jelle, Wagner, Michael, Wallon, David, Wang, Li-San, Zarea, Aline, Clarimon, Jordi, van Swieten, John C., Greicius, Michael D., Yokoyama, Jennifer S., Cruchaga, Carlos, Hardy, John, Ramirez, Alfredo, Mead, Simon, van der Flier, Wiesje M., van Duijn, Cornelia M., Williams, Julie, Nicolas, Gaël, Bellenguez, Céline, Lambert, Jean-Charles

المصدر: Nature Genetics; 20220101, Issue: Preprints p1-9, 9p

المؤلفون: Hogervorst, Frans B L, Nederlof, Petra M, Gille, Johan J P, McElgunn, Cathal J, Grippeling, Maartje, Pruntel, Roelof, Regnerus, Rein, van Welsem, Tibor, van Spaendonk, Resie, Menko, Fred H, Kluijt, Irma, Dommering, Charlotte, Verhoef, Senno, Schouten, Jan P, van't Veer, Laura J, Pals, Gerard

المصدر: Hogervorst , F B L , Nederlof , P M , Gille , J J P , McElgunn , C J , Grippeling , M , Pruntel , R , Regnerus , R , van Welsem , T , van Spaendonk , R , Menko , F H , Kluijt , I , Dommering , C , Verhoef , S , Schouten , J P , van't Veer , L J & Pals , G 2003 , ' Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method ' , Cancer Research , vol. ....

الاتاحة: https://research.vumc.nl/en/publications/fb3d5be9-99cd-45d6-8e48-bb2647401021

المؤلفون: Hogervorst, Frans B. L., Nederlof, Petra M., Gille, Johan J. P., McElgunn, Cathal J., Grippeling, Maartje, Pruntel, Roelof, Regnerus, Rein, van Welsem, Tibor, van Spaendonk, Resie, Menko, Fred H., Kluijt, Irma, Dommering, Charlotte, Verhoef, Senno, Schouten, Jan P., van't Veer, Laura J., Pals, Gerard

المساهمون: Human genetics, CCA - Cancer biology and immunology, Human Genetics

المصدر: Cancer Research, 63(7), 1449-53. American Association for Cancer Research Inc.
Hogervorst, F B L, Nederlof, P M, Gille, J J P, McElgunn, C J, Grippeling, M, Pruntel, R, Regnerus, R, van Welsem, T, van Spaendonk, R, Menko, F H, Kluijt, I, Dommering, C, Verhoef, S, Schouten, J P, van't Veer, L J & Pals, G 2003, ' Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method ', Cancer Research, vol. 63, no. 7, pp. 1449-53 .
Cancer research, 63(7), 1449-1453. American Association for Cancer Research Inc.

مصطلحات موضوعية: endocrine system diseases, skin and connective tissue diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c4550809006aa5968ccd31648db88cdc
https://research.vumc.nl/en/publications/fb3d5be9-99cd-45d6-8e48-bb2647401021

المؤلفون: UCL - SSS/IONS - Institute of NeuroScience, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique, Biancheri, Roberta, Zara, Federico, Rossi, Andrea, Mathot, Mikaël, Nassogne, Marie-Cécile, Yalcinkaya, Cengiz, Erturk, Ozdem, Tuysuz, Behyan, Di Rocco, Maja, Gazzerro, Elisabetta, Bugiani, Marianna, van Spaendonk, Resie, Sistermans, Erik A, Minetti, Carlo, van der Knaap, Marjo S, Wolf, Nicole I

المصدر: Archives of Neurology, Vol. 68, no. 9, p. 1191-1194 (2011)

مصطلحات الفهرس: Cataract, Child, Preschool, Demyelinating Diseases, Humans, Infant, Intracellular Signaling Peptides and Proteins, Membrane Proteins, Phenotype, Severity of Illness Index, info:eu-repo/semantics/article

URL: http://hdl.handle.net/2078/118445

المؤلفون: Hung, Christy, Tuck, Eleanor, Stubbs, Victoria, van der Lee, Sven J., Aalfs, Cora, van Spaendonk, Resie, Scheltens, Philip, Hardy, John, Holstege, Henne, Livesey, Frederick J.

المصدر: Cell Reports; June 2021, Vol. 35 Issue: 11

المؤلفون: Holstege, Henne, Hulsman, Marc, Charbonnier, Camille, Grenier-Boley, Benjamin, Quenez, Olivier, Grozeva, Detelina, van Rooij, Jeroen G. J., Sims, Rebecca, Ahmad, Shahzad, Amin, Najaf, Norsworthy, Penny J., Dols-Icardo, Oriol, Hummerich, Holger, Kawalia, Amit, Amouyel, Philippe, Beecham, Gary W., Berr, Claudine, Bis, Joshua C., Boland, Anne, Bossu, Paola, Bouwman, Femke, Bras, Jose, Campion, Dominique, Cochran, J. Nicholas, Daniele, Antonio, Dartigues, Jean-Francois, Debette, Stephanie, Deleuze, Jean-Francois, Denning, Nicola, DeStefano, Anita L., Farrer, Lindsay A., Fernandez, Maria Victoria, Fox, Nick C., Galimberti, Daniela, Genin, Emmanuelle, Gille, Johan J. P., Le Guen, Yann, Guerreiro, Rita, Haines, Jonathan L., Holmes, Clive, Ikram, M. Arfan, Ikram, M. Kamran, Jansen, Iris E., Kraaij, Robert, Lathrop, Marc, Lemstra, Afina W., Lleo, Alberto, Luckcuck, Lauren, Mannens, Marcel M. A. M., Marshall, Rachel, Martin, Eden R., Masullo, Carlo, Mayeux, Richard, Mecocci, Patrizia, Meggy, Alun, Mol, Merel O., Morgan, Kevin, Myers, Richard M., Nacmias, Benedetta, Naj, Adam C., Napolioni, Valerio, Pasquier, Florence, Pastor, Pau, Pericak-Vance, Margaret A., Raybould, Rachel, Redon, Richard, Reinders, Marcel J. T., Richard, Anne-Claire, Riedel-Heller, Steffi G., Rivadeneira, Fernando, Rousseau, Stephane, Ryan, Natalie S., Saad, Salha, Sanchez-Juan, Pascual, Schellenberg, Gerard D., Scheltens, Philip, Schott, Jonathan M., Seripa, Davide, Seshadri, Sudha, Sie, Daoud, Sistermans, Erik A., Sorbi, Sandro, van Spaendonk, Resie, Spalletta, Gianfranco, Tesi, Niccolo', Tijms, Betty, Uitterlinden, Andre G., van der Lee, Sven J., Visser, Pieter Jelle, Wagner, Michael, Wallon, David, Wang, Li-San, Zarea, Aline, Clarimon, Jordi, van Swieten, John C., Greicius, Michael D., Yokoyama, Jennifer S., Cruchaga, Carlos, Hardy, John, Ramirez, Alfredo, Mead, Simon, van der Flier, Wiesje M., van Duijn, Cornelia M., Williams, Julie, Nicolas, Gael, Bellenguez, Celine, Lambert, Jean-Charles

مصطلحات موضوعية: ddc:no

Relation: Holstege, Henne, Hulsman, Marc orcid:0000-0002-9889-3606 , Charbonnier, Camille orcid:0000-0003-1172-0196 , Grenier-Boley, Benjamin, Quenez, Olivier orcid:0000-0002-8273-8505 , Grozeva, Detelina orcid:0000-0003-3239-8415 , van Rooij, Jeroen G. J., Sims, Rebecca orcid:0000-0002-3885-1199 , Ahmad, Shahzad orcid:0000-0002-8658-3790 , Amin, Najaf, Norsworthy, Penny J., Dols-Icardo, Oriol orcid:0000-0003-2656-8748 , Hummerich, Holger, Kawalia, Amit, Amouyel, Philippe, Beecham, Gary W., Berr, Claudine, Bis, Joshua C., Boland, Anne, Bossu, Paola, Bouwman, Femke, Bras, Jose, Campion, Dominique, Cochran, J. Nicholas, Daniele, Antonio, Dartigues, Jean-Francois, Debette, Stephanie, Deleuze, Jean-Francois, Denning, Nicola, DeStefano, Anita L., Farrer, Lindsay A., Fernandez, Maria Victoria, Fox, Nick C., Galimberti, Daniela orcid:0000-0002-9284-5953 , Genin, Emmanuelle, Gille, Johan J. P., Le Guen, Yann, Guerreiro, Rita, Haines, Jonathan L., Holmes, Clive, Ikram, M. Arfan, Ikram, M. Kamran, Jansen, Iris E., Kraaij, Robert, Lathrop, Marc, Lemstra, Afina W., Lleo, Alberto, Luckcuck, Lauren, Mannens, Marcel M. A. M., Marshall, Rachel, Martin, Eden R., Masullo, Carlo, Mayeux, Richard, Mecocci, Patrizia, Meggy, Alun, Mol, Merel O., Morgan, Kevin, Myers, Richard M., Nacmias, Benedetta, Naj, Adam C., Napolioni, Valerio, Pasquier, Florence, Pastor, Pau orcid:0000-0002-7493-8777 , Pericak-Vance, Margaret A., Raybould, Rachel, Redon, Richard, Reinders, Marcel J. T., Richard, Anne-Claire, Riedel-Heller, Steffi G., Rivadeneira, Fernando, Rousseau, Stephane, Ryan, Natalie S., Saad, Salha, Sanchez-Juan, Pascual, Schellenberg, Gerard D., Scheltens, Philip, Schott, Jonathan M., Seripa, Davide, Seshadri, Sudha, Sie, Daoud, Sistermans, Erik A., Sorbi, Sandro, van Spaendonk, Resie, Spalletta, Gianfranco, Tesi, Niccolo', Tijms, Betty, Uitterlinden, Andre G., van der Lee, Sven J., Visser, Pieter Jelle, Wagner, Michael, Wallon, David, Wang, Li-San, Zarea, Aline, Clarimon, Jordi, van Swieten, John C., Greicius, Michael D., Yokoyama, Jennifer S., Cruchaga, Carlos, Hardy, John orcid:0000-0002-3122-0423 , Ramirez, Alfredo orcid:0000-0003-4991-763X , Mead, Simon orcid:0000-0002-4326-1468 , van der Flier, Wiesje M., van Duijn, Cornelia M., Williams, Julie, Nicolas, Gael, Bellenguez, Celine orcid:0000-0002-1240-7874 and Lambert, Jean-Charles . Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease. Nature Genet. BERLIN: NATURE PORTFOLIO. ISSN 1546-1718

الاتاحة: https://kups.ub.uni-koeln.de/69931/

المؤلفون: Holstege, Henne, Hulsman, Marc, Charbonnier, Camille, Grenier-Boley, Benjamin, Quenez, Olivier, Grozeva, Detelina, van Rooij, Jeroen, Sims, Rebecca, Ahmad, Shahzad, Amin, Najaf, Norsworthy, Penny, Dols-Icardo, Oriol, Hummerich, Holger, Kawalia, Amit, Amouyel, Philippe, Beecham, Gary, Berr, Claudine, Bis, Joshua, Boland, Anne, Bossu, Paola, Bouwman, Femke, Bras, Jose, Campion, Dominique, Cochran, Jesse Nicholas, Daniele, Antonio, Dartigues, Jean-Francois, Debette, Stephanie, Deleuze, Jean-Francois, Denning, Nicola, Destefano, Anita, Farrer, Lindsay, Fernandez, Maria-Victoria, Fox, Nick, Galimberti, Daniela, Genin, Emmanuelle, Gille, Johan JP, Le Guen, Yann, Guerreiro, Rita, Haines, Jonathan, Holmes, Clive, Ikram, M. Arfan, Ikram, M. Kamran, Jansen, Iris E., Kraaij, Robert, Lathrop, Mark, Lemstra, Afina W., Lleo, Alberto, Luckcuck, Lauren, Mannens, Marcel M.A.M., Marschall, Rachel, Martin, Eden, Masullo, Carlo, Mayeux, Richard, Mecocci, Patrizia, Meggy, Alun, Mol, Merel, Morgan, Kevin, Myers, Richard M., Nacmias, Benedetta, Naj, Adam, Napolioni, Valerio, Pasquier, Florence, Pastor, Pau, Pericak-Vance, Margaret, Raybould, Rachel, Redon, Richard, Reinders, Marcel J.T., Richard, Anne-Claire, Riedel-Heller, Steffi, Rivadeneira, Fernando, Rousseau, Stephane, Ryan, Natalie, Saad, Salha, Sanchez-Juan, Pascual, Schellenberg, Gerard, Scheltens, Philip, Schott, Jonathan M., Seripa, Davide, Seshadri, Sudha, Sie, Daoud, Sistermans, Erik A, Sorbi, Sandro, van Spaendonk, Resie, Spalletta, Gianfranco, Tesi, Niccolo, Tijms, Betty, Uitterlinden, Andre, van der Lee, Sven, Wagner, Michael, Wallon, David, Wang, Li San, Zarea, Aline, Clarimon, Jordi, van Swieten, John, Greicius, Michael D., Yokoyama, Jennifer S., Cruchaga, Carlos, Hardy, John, Ramirez, Alfredo, Mead, Simon H, van der Flier, Wiesje, van Duijn, Cornelia, Williams, Julie, Nicolas, Gael, Bellenguez, Celine, Lambert, Jean-Charles

وصف الملف: PDF

URL الوصول: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::5eb71320d50d12bedaff0b381889150b

المؤلفون: Holstege, Henne, Hulsman, Marc, Charbonnier, Camille, Grenier-Boley, Benjamin, Quenez, Olivier, Grozeva, Detelina, van Rooij, Jeroen G. J., Sims, Rebecca, Ahmad, Shahzad, Amin, Najaf, Norsworthy, Penny J., Dols-Icardo, Oriol, Hummerich, Holger, Kawalia, Amit, Amouyel, Philippe, Beecham, Gary W., Berr, Claudine, Bis, Joshua C., Boland, Anne, Bossu, Paola, Bouwman, Femke, Bras, Jose, Campion, Dominique, Cochran, J. Nicholas, Daniele, Antonio, Dartigues, Jean-Francois, Debette, Stephanie, Deleuze, Jean-Francois, Denning, Nicola, DeStefano, Anita L., Farrer, Lindsay A., Fernandez, Maria Victoria, Fox, Nick C., Galimberti, Daniela, Genin, Emmanuelle, Gille, Johan J. P., Le Guen, Yann, Guerreiro, Rita, Haines, Jonathan L., Holmes, Clive, Ikram, M. Arfan, Ikram, M. Kamran, Jansen, Iris E., Kraaij, Robert, Lathrop, Marc, Lemstra, Afina W., Lleo, Alberto, Luckcuck, Lauren, Mannens, Marcel M. A. M., Marshall, Rachel, Martin, Eden R., Masullo, Carlo, Mayeux, Richard, Mecocci, Patrizia, Meggy, Alun, Mol, Merel O., Morgan, Kevin, Myers, Richard M., Nacmias, Benedetta, Naj, Adam C., Napolioni, Valerio, Pasquier, Florence, Pastor, Pau, Pericak-Vance, Margaret A., Raybould, Rachel, Redon, Richard, Reinders, Marcel J. T., Richard, Anne-Claire, Riedel-Heller, Steffi G., Rivadeneira, Fernando, Rousseau, Stephane, Ryan, Natalie S., Saad, Salha, Sanchez-Juan, Pascual, Schellenberg, Gerard D., Scheltens, Philip, Schott, Jonathan M., Seripa, Davide, Seshadri, Sudha, Sie, Daoud, Sistermans, Erik A., Sorbi, Sandro, van Spaendonk, Resie, Spalletta, Gianfranco, Tesi, Niccolo', Tijms, Betty, Uitterlinden, Andre G., van der Lee, Sven J., Visser, Pieter Jelle, Wagner, Michael, Wallon, David, Wang, Li-San, Zarea, Aline, Clarimon, Jordi, van Swieten, John C., Greicius, Michael D., Yokoyama, Jennifer S., Cruchaga, Carlos, Hardy, John, Ramirez, Alfredo, Mead, Simon, van der Flier, Wiesje M., van Duijn, Cornelia M., Williams, Julie, Nicolas, Gael, Bellenguez, Celine, Lambert, Jean-Charles

مصطلحات الفهرس: ddc:no, doc-type:article, publishedVersion

URL: https://kups.ub.uni-koeln.de/69931/
https://kups.ub.uni-koeln.de/69931
10.1038/s41588-022-01208-7

المؤلفون: Geli, Vincent, Lloubes, Roland, Zaat, Sebastian A.J., van Spaendonk, Resie M.L., Rollin, Caroline, Benedetti, Hélène, Lazdunski, Claude

المصدر: FEMS Microbiology Letters; May 1993, Vol. 109 Issue: 2-3 p335-335, 1p