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1Academic Journal
المؤلفون: Wallon, David, Boluda, Susana, Rovelet-Lecrux, Anne, Thierry, Manon, Lagarde, Julien, Miguel, Laetitia, Lecourtois, Magalie, Bonnevalle, Antoine, Sarazin, Marie, Bottlaender, Michel, Mula, Mathieu, Marty, Serge, Nakamura, Natsuko, Schramm, Catherine, Sellal, François, Jonveaux, Thérèse, Heitz, Camille, Le Ber, Isabelle, Epelbaum, Stéphane, Magnin, Eloi, Zarea, Aline, Rousseau, Stéphane, Quenez, Olivier, Hannequin, Didier, Clavaguera, Florence, Campion, Dominique, Duyckaerts, Charles, Nicolas, Gaël
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 Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Neurologie de la mémoire et du langage CHU Ste Anne, Université Paris Descartes - Paris 5 (UPD5), Institute for Research and Innovation in Biomedicine (IRIB), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Sainte Anne Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), LaBoratoire d'Imagerie biOmédicale MultimodAle Paris-Saclay (BIOMAPS), Service Hospitalier Frédéric Joliot (SHFJ), Université Paris-Saclay-Institut des Sciences du Vivant Frédéric JOLIOT (JOLIOT), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Institut des Sciences du Vivant Frédéric JOLIOT (JOLIOT), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), ANR-11-INBS-0011,NeurATRIS,Infrastructure de Recherche Translationnelle pour les Biothérapies en Neurosciences(2011)
المصدر: ISSN: 0001-6322.
مصطلحات موضوعية: MAPT duplication, Pick disease, Progressive supranuclear palsy, Tau, Tau seeding, MESH: Age of Onset, MESH: Middle Aged, MESH: Cognitive Dysfunction, MESH: Female, MESH: Heterozygote, MESH: Humans, MESH: Inclusion Bodies, MESH: Male, MESH: Tauopathies, MESH: tau Proteins, MESH: Alzheimer Disease, MESH: Brain, [SDV]Life Sciences [q-bio]
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2Academic Journal
المؤلفون: Kalman, Janos, Olde Loohuis, Loes, Vreeker, Annabel, Mcquillin, Andrew, Stahl, Eli, Ruderfer, Douglas, Grigoroiu-Serbanescu, Maria, Panagiotaropoulou, Georgia, Ripke, Stephan, Bigdeli, Tim, Stein, Frederike, Meller, Tina, Meinert, Susanne, Pelin, Helena, Streit, Fabian, Papiol, Sergi, Adams, Mark, Adolfsson, Rolf, Adorjan, Kristina, Agartz, Ingrid, Aminoff, Sofie, Anderson-Schmidt, Heike, Andreassen, Ole, Ardau, Raffaella, Aubry, Jean-Michel, Balaban, Ceylan, Bass, Nicholas, Baune, Bernhard, Bellivier, Frank, Benabarre, Antoni, Bengesser, Susanne, Berrettini, Wade, Boks, Marco, Bromet, Evelyn, Brosch, Katharina, Budde, Monika, Byerley, William, Cervantes, Pablo, Chillotti, Catina, Cichon, Sven, Clark, Scott, Comes, Ashley, Corvin, Aiden, Coryell, William, Craddock, Nick, Craig, David, Croarkin, Paul, Cruceanu, Cristiana, Czerski, Piotr, Dalkner, Nina, Dannlowski, Udo, Degenhardt, Franziska, del Zompo, Maria, Depaulo, J Raymond, Djurovic, Srdjan, Edenberg, Howard, Eissa, Mariam Al, Elvsåshagen, Torbjørn, Etain, Bruno, Fanous, Ayman, Fellendorf, Frederike, Fiorentino, Alessia, Forstner, Andreas, Frye, Mark, Fullerton, Janice, Gade, Katrin, Garnham, Julie, Gershon, Elliot, Gill, Michael, Goes, Fernando, Gordon-Smith, Katherine, Grof, Paul, Guzman-Parra, Jose, Hahn, Tim, Hasler, Roland, Heilbronner, Maria, Heilbronner, Urs, Jamain, Stephane, Jimenez, Esther, Jones, Ian, Jones, Lisa, Jonsson, Lina, Kahn, Rene, Kelsoe, John, Kennedy, James, Kircher, Tilo, Kirov, George, Kittel-Schneider, Sarah, Klöhn-Saghatolislam, Farah, Knowles, James, Kranz, Thorsten, Lagerberg, Trine Vik, Landen, Mikael, Lawson, William, Leboyer, Marion, Li, Qingqin, Maj, Mario, Malaspina, Dolores, Manchia, Mirko, Mayoral, Fermin, Mcelroy, Susan, Mcinnis, Melvin, McIntosh, Andrew, Medeiros, Helena, Melle, Ingrid, Milanova, Vihra, Mitchell, Philip, Monteleone, Palmiero, Monteleone, Alessio Maria, Nöthen, Markus, Novak, Tomas, Nurnberger, John, O'Brien, Niamh, O'Connell, Kevin, O'Donovan, Claire, O'Donovan, Michael, Opel, Nils, Ortiz, Abigail, Owen, Michael, Pålsson, Erik, Pato, Carlos, Pato, Michele, Pawlak, Joanna, Pfarr, Julia-Katharina, Pisanu, Claudia, Potash, James, Rapaport, Mark, Reich-Erkelenz, Daniela, Reif, Andreas, Reininghaus, Eva, Repple, Jonathan, Richard-Lepouriel, Hélène, Rietschel, Marcella, Ringwald, Kai, Roberts, Gloria, Rouleau, Guy, Schaupp, Sabrina, Scheftner, William, Schmitt, Simon, Schofield, Peter, Schubert, K Oliver, Schulte, Eva, Schweizer, Barbara, Senner, Fanny, Severino, Giovanni, Sharp, Sally, Slaney, Claire, Smeland, Olav, Sobell, Janet, Squassina, Alessio, Stopkova, Pavla, Strauss, John, Tortorella, Alfonso, Turecki, Gustavo, Twarowska-Hauser, Joanna, Veldic, Marin, Vieta, Eduard, Vincent, John, Xu, Wei, Zai, Clement, Zandi, Peter, Di Florio, Arianna, Smoller, Jordan, Biernacka, Joanna, Mcmahon, Francis, Alda, Martin, Müller-Myhsok, Bertram, Koutsouleris, Nikolaos, Falkai, Peter, Freimer, Nelson, Andlauer, Till, Schulze, Thomas, Ophoff, Roel, Depaulo, J. Raymond, Schubert, K. Oliver, Andlauer, Till F.M.
المساهمون: Optimisation thérapeutique en Neuropsychopharmacologie (OPTeN (UMR_S 1144 / U1144)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hôpital Lariboisière-Fernand-Widal APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), IMRB - "Neuropsychiatrie translationnelle" Créteil (U955 Inserm - UPEC), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)
المصدر: ISSN: 0007-1250.
مصطلحات موضوعية: Bipolar disorder, GWAS, age at onset, polarity at onset, polygenic score, MESH: Age of Onset, MESH: Autism Spectrum Disorder, MESH: Bipolar Disorder, MESH: Depressive Disorder, Major, MESH: Genome-Wide Association Study, MESH: Humans, MESH: Multifactorial Inheritance, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health
Relation: info:eu-repo/semantics/altIdentifier/pmid/35048876; PUBMED: 35048876; PUBMEDCENTRAL: PMC8636611
الاتاحة: https://inserm.hal.science/inserm-03827490
https://inserm.hal.science/inserm-03827490v1/document
https://inserm.hal.science/inserm-03827490v1/file/characterisation-of-age-and-polarity-at-onset-in-bipolar-disorder.pdf
https://doi.org/10.1192/bjp.2021.102 -
3Academic Journal
المؤلفون: Imbert-Bouteille, Marion, Corsini, Carole, Picot, Marie-Christine, Mizrahy, Lucas, Akouete, Sandrine, Huguet, Helena, Thomas, Frédéric, Geneviève, David, Taourel, Patrice, Ychou, Marc, Galibert, Virginie, Rideau, Chloé, Baudry, Karen, Kogut-Kubiak, Tatiana, Coupier, Isabelle, Hobeika, Rémy, Macary, Yvette, Toledano, Alain, Solassol, Jérôme, Maalouf, Antoine, Daurès, Jean-Pierre, Pujol, Pascal
المساهمون: Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Université de Montpellier (UM), Federal University of Juiz de Fora (UFIJ), Institut de Génomique Fonctionnelle (IGF), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), CIC Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Hôpital Saint Eloi CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherches Ecologiques et Evolutives sur le Cancer (MIVEGEC-CREEC), Processus Écologiques et Évolutifs au sein des Communautés (PEEC), Maladies infectieuses et vecteurs : écologie, génétique, évolution et contrôle (MIVEGEC), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD Occitanie )-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD Occitanie )-Maladies infectieuses et vecteurs : écologie, génétique, évolution et contrôle (MIVEGEC), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD Occitanie )-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD Occitanie ), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Institut Desbrest de santé publique (IDESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Institut de Recherche en Cancérologie de Montpellier (IRCM - U1194 Inserm - UM), CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Clinique Hartmann Neuilly-sur-Seine, Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD Occitanie )
المصدر: ISSN: 2073-4425 ; Genes ; https://hal.science/hal-03648649 ; Genes, 2021, 12 (7), pp.1100. ⟨10.3390/genes12071100⟩.
مصطلحات موضوعية: BRCA1, BRCA2, Breast cancer, Early-onset, Ovarian cancer, MESH: Adult, MESH: Age of Onset, MESH: Breast Neoplasms, MESH: Family, MESH: Female, MESH: France, MESH: Genetic Predisposition to Disease, MESH: Humans, MESH: Middle Aged, MESH: Mutation, MESH: Ovarian Neoplasms, MESH: Retrospective Studies, MESH: Risk Factors, MESH: Young Adult, MESH: BRCA1 Protein, MESH: BRCA2 Protein, [SDV.CAN]Life Sciences [q-bio]/Cancer, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics
Relation: info:eu-repo/semantics/altIdentifier/pmid/34356116; PUBMED: 34356116; PUBMEDCENTRAL: PMC8305427; WOS: 000676758900001
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4Academic Journal
المؤلفون: Sellami, Leila, Rucheton, Benoit, Ben Younes, Imen, Camuzat, Agnès, Saracino, Dario, Rinaldi, Daisy, Epelbaum, Stéphane, Azuar, Carole, Levy, Richard, Auriacombe, Sophie, Hannequin, Didier, Pariente, Jérémie, Barbier, Mathieu, Boutoleau-Bretonnière, Claire, Couratier, Philippe, Pasquier, Florence, Deramecourt, Vincent, Sauvee, Mathilde, Sarazin, Marie, Lagarde, Julien, Roué-Jagot, Carole, Forlani, Sylvie, Jornea, Ludmila, David, Isabelle, Leguern, Eric, Dubois, Bruno, Brice, Alexis, Clot, Fabienne, Lamari, Foudil, Le Ber, Isabelle
المساهمون: Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut de la Mémoire et de la Maladie d'Alzheimer CHU Pitié-Salpétriêre (IM2A), Université Pierre et Marie Curie - Paris 6 (UPMC)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Bordeaux (CHU Bordeaux), Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques, Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Toulouse NeuroImaging Center (ToNIC), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Toulouse Mind & Brain Institut (TMBI), Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT), Département Neurologie CHU Toulouse, Pôle Neurosciences CHU Toulouse, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de neurologie Nantes, Université de Nantes (UN)-Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes)-Hôpital Guillaume-et-René-Laennec Saint-Herblain, Neuroépidémiologie Tropicale (NET), CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Service de Neurologie CHU Limoges, CHU Limoges, Neuroendocrinologie et physiopathologie neuronale, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Droit et Santé, Pôle Psychiatrie et Neurologie Grenoble, Centre Hospitalier Universitaire CHU Grenoble (CHUGA), Neurologie et thérapeutique expérimentale, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), ANR-11-INBS-0011,NeurATRIS,Infrastructure de Recherche Translationnelle pour les Biothérapies en Neurosciences(2011)
المصدر: ISSN: 0197-4580 ; Neurobiology of Aging ; https://unilim.hal.science/hal-02870179 ; Neurobiology of Aging, 2020, 91, pp.167.e1-167.e9. ⟨10.1016/j.neurobiolaging.2020.02.014⟩.
مصطلحات موضوعية: Frontotemporal dementia, Progranulin (GRN), Plasma progranulin levels, C9orf72, MESH: Adult, MESH: Age of Onset, MESH: Humans, MESH: Male, MESH: Middle Aged, MESH: Mutation, MESH: Predictive Value of Tests, MESH: Progranulins / blood, MESH: Progranulins / genetics, MESH: Sex Characteristics, MESH: Time Factors, MESH: Aged, MESH: Female, MESH: France, MESH: Frontotemporal Dementia / diagnosis, MESH: Frontotemporal Dementia / genetics, MESH: Frontotemporal Lobar Degeneration / diagnosis, MESH: Frontotemporal Lobar Degeneration / genetics, MESH: Heterozygote, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie
Relation: info:eu-repo/semantics/altIdentifier/pmid/32171590; PUBMED: 32171590
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5Academic Journal
المؤلفون: Huin, Vincent, Barbier, Mathieu, Bottani, Armand, Lobrinus, Johannes, Alexander, Clot, Fabienne, Lamari, Foudil, Chat, Laureen, Rucheton, Benoît, Fluchère, Frédérique, Auvin, Stéphane, Myers, Peter, Gelot, Antoinette, Camuzat, Agnès, Caillaud, Catherine, Jornéa, Ludmila, Forlani, Sylvie, Saracino, Dario, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Le Ber, Isabelle
المساهمون: Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Geneva University Hospital (HUG), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital de la Timone CHU - APHM (TIMONE), Aix Marseille Université (AMU), Service de neurologie pédiatrique et maladies métaboliques, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Cité (UPCité), Medical Office Geneva, Switzerland, CHU Trousseau APHP, Institut de Neurobiologie de la Méditerranée Aix-Marseille Université (INMED - INSERM U1249), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), ANR-11-INBS-0011,NeurATRIS,Infrastructure de Recherche Translationnelle pour les Biothérapies en Neurosciences(2011)
المصدر: ISSN: 0006-8950.
مصطلحات موضوعية: Progranulin, GRN, Cerebellar ataxia, Neuronal ceroid lipofuscinosis, Frontotemporal dementia, frontotemporal lobar degeneration, TDP-43, MESH: Adolescent, MESH: Adult, MESH: Frontotemporal Dementia / diagnostic imaging, MESH: Heterozygote, MESH: RNA Splicing / genetics, MESH: Homozygote, MESH: Humans, MESH: Middle Aged, MESH: Neuronal Ceroid-Lipofuscinoses / physiopathology, MESH: Mutation, MESH: Neuronal Ceroid-Lipofuscinoses / diagnostic imaging, MESH: Age of Onset, MESH: Young Adult, MESH: Parkinsonian Disorders / diagnostic imaging, MESH: Parkinsonian Disorders / genetics, MESH: Parkinsonian Disorders / physiopathology, MESH: Rare Diseases, MESH: Progranulins / genetics, MESH: Progranulins / metabolism, MESH: Frontotemporal Dementia / genetics, MESH: Retinitis Pigmentosa / genetics, MESH: TDP-43 Proteinopathies / diagnostic imaging, MESH: TDP-43 Proteinopathies / genetics
Relation: info:eu-repo/semantics/altIdentifier/pmid/31855245; PUBMED: 31855245
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6Academic Journal
المؤلفون: Krohn, Lynne, Ruskey, Jennifer A., Rudakou, Uladzislau, Leveille, Etienne, Asayesh, Farnaz, Hu, Michele T.M., Arnulf, Isabelle, Dauvilliers, Yves, Högl, Birgitte, Stefani, Ambra, Charley-Monaca, Christelle, Abril, Beatriz, Plazzi, Giuseppe, Antelmi, Elena, Ferini-Strambi, Luigi, Heidbreder, Anna, Boeve, Bradley F., Espay, Alberto J., Cochen de Cock, Valerie, Mollenhauer, Brit, Sixel-Döring, Friederike, Trenkwalder, Claudia, Sonka, Karel, Kemlink, David, Figorilli, Michela, Puligheddu, Monica, Dijkstra, Femke, Viaene, Mineke, Oertel, Wolfgang, Toffoli, Marco, Gigli, Gian Luigi, Valente, Mariarosaria, Gagnon, Jean-François, Desautels, Alex, Montplaisir, Jacques, Postuma, Ronald B., Rouleau, Guy A, Gan-Or, Ziv
المساهمون: McGill University = Université McGill Montréal, Canada, McGill University Health Center Montreal (MUHC), Institut Interdisciplinaire d'Innovation Technologique Sherbrooke (3IT), Université de Sherbrooke (UdeS), Department of Neurology and Neurosurgery Montreal, Montreal Neurological Institute and Hospital, McGill University = Université McGill Montréal, Canada -McGill University = Université McGill Montréal, Canada, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), Troubles cognitifs dégénératifs et vasculaires - U 1171 - EA 1046 (TCDV), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Alma Mater Studiorum Università di Bologna = University of Bologna (UNIBO), Universita Vita Salute San Raffaele = Vita-Salute San Raffaele University Milan, Italie (UniSR), University Hospital Münster - Universitaetsklinikum Muenster Germany (UKM), Mayo Clinic Rochester, University of Cincinnati (UC), Euromov (EuroMov), Université de Montpellier (UM), University Medical Center Göttingen (UMG), Philipps Universität Marburg = Philipps University of Marburg, Univerzita Karlova Praha, Česká republika = Charles University Prague, Czech Republic (UK), 1. lékařská fakulta, Univerzita Karlova Praha, Česká republika = First Faculty of Medicine, Charles University Prague, Czech Republic (1. LF UK / 1st Faculty of Medicine), University of Cagliari, Università degli Studi di Udine - University of Udine Italie, University of Alberta, Université de Montréal (UdeM), Hôpital du Sacré-Coeur de Montréal, National Institutes of Health Bethesda, MD, USA (NIH)
المصدر: ISSN: 0028-3878.
مصطلحات موضوعية: MESH: Age of Onset, MESH: Aged, MESH: Glucosylceramidase, MESH: Humans, MESH: Male, MESH: Middle Aged, MESH: Neurodegenerative Diseases, MESH: REM Sleep Behavior Disorder, MESH: Disease Progression, MESH: Female, MESH: Genetic Predisposition to Disease, MESH: Genetic Variation, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV]Life Sciences [q-bio]
Relation: info:eu-repo/semantics/altIdentifier/pmid/32591474; PUBMED: 32591474; PUBMEDCENTRAL: PMC7668554; WOS: 000582382800014
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7Academic Journal
المؤلفون: Malki, Liron, Sarig, Ofer, Romano, Maria-Teresa, Mechin, Marie-Claire, Peled, Alon, Pavlovsky, Mor, Warshauer, Emily, Samuelov, Liat, Uwakwe, Laura, Briskin, Valeria, Mohamad, Janan, Gat, Andrea, Isakov, Ofer, Rabinowitz, Tom, Shomron, Noam, Adir, Noam, Simon, Michel, Mcmichael, Amy, Dlova, Ncoza, C, Betz, Regina, C, Sprecher, Eli
المساهمون: Tel Aviv Sourasky Medical Center Tel Aviv, Sackler Faculty of Medicine, Tel Aviv University (TAU), Institut für Genetik - Universität Bonn / Institute of Genetics - University of Bonn, Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Wake Forest Baptist Medical Center, Schulich faculty of chemistry, Technion - Israel Institute of Technology Haifa, University of KwaZulu-Natal Durban, Afrique du Sud (UKZN)
المصدر: ISSN: 0028-4793.
مصطلحات موضوعية: MESH: Adolescent, MESH: Adult, MESH: Genetic Predisposition to Disease, MESH: Hair / growth & development, MESH: Heterozygote, MESH: Humans, MESH: Middle Aged, MESH: Mutagenesis, MESH: Mutation, MESH: Pedigree, MESH: Protein-Arginine Deiminase Type 3, MESH: Protein-Arginine Deiminases / genetics, MESH: African Americans / genetics, MESH: Protein-Arginine Deiminases / metabolism, MESH: Scalp / pathology, MESH: Sequence Analysis, DNA, MESH: Age of Onset, MESH: Alopecia / ethnology, MESH: Alopecia / genetics, MESH: Chi-Square Distribution, MESH: Cicatrix / genetics, MESH: Exome, MESH: Female, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases
Relation: info:eu-repo/semantics/altIdentifier/pmid/30763140; hal-03180564; https://ut3-toulouseinp.hal.science/hal-03180564; https://ut3-toulouseinp.hal.science/hal-03180564/document; https://ut3-toulouseinp.hal.science/hal-03180564/file/MalkiLiron_2019.pdf; PUBMED: 30763140
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8Academic JournalMechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia
المؤلفون: Newton, Timothy, Allison, Rachel, Edgar, James, R, Lumb, Jennifer, H, Rodger, Catherine, E, Manna, Paul, T, Rizo, Tania, Kohl, Zacharias, Nygren, Anders, O H, Arning, Larissa, Schüle, Rebecca, Depienne, Christel, Goldberg, Lisa, Frahm, Christiane, Stevanin, Giovanni, Durr, Alexandra, Schöls, Ludger, Winner, Beate, Beetz, Christian, Reid, Evan
المساهمون: Cambridge Institute for Medical Research (CIMR), University of Cambridge UK (CAM), Friedrich-Alexander Universität Erlangen-Nürnberg = University of Erlangen-Nuremberg (FAU), MRC-Holland, Ruhr University Bochum = Ruhr-Universität Bochum (RUB), Eberhard Karls Universität Tübingen = University of Tübingen, German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Jena University Hospital Jena, Friedrich-Schiller-Universität = Friedrich Schiller University Jena Jena, Germany, École Pratique des Hautes Études (EPHE), Université Paris Sciences et Lettres (PSL), ANR-13-RARE-0003,NEUROLIPID,Lipid metabolism in the pathogenesis of hereditary spastic paraplegia: genes, biomarkers, and models for therapy(2013)
المصدر: ISSN: 0006-8950.
مصطلحات موضوعية: Axonopathy, Histone methyltransferase, Epistasis, Endosomal tubule fission, Lysosome, MESH: Adult, MESH: Age of Onset, MESH: Lysosomes, MESH: Male, MESH: Membrane Proteins, MESH: Middle Aged, MESH: Mutation, MESH: Nuclear Proteins, MESH: Protein Transport, MESH: Spastic Paraplegia, Hereditary, MESH: Spastin, MESH: Transcription Factors, MESH: CD8 Antigens, MESH: DNA-Binding Proteins, MESH: Epistasis, Genetic, MESH: Female, MESH: Guanine Nucleotide Exchange Factors, MESH: HeLa Cells, MESH: Humans, MESH: Lysosomal-Associated Membrane Protein 1, [SDV]Life Sciences [q-bio]
Relation: info:eu-repo/semantics/altIdentifier/pmid/29481671; PUBMED: 29481671; PUBMEDCENTRAL: PMC5917785
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9Academic Journal
المؤلفون: Charbit-Henrion, Fabienne, Parlato, Marianna, Hanein, Sylvain, Duclaux-Loras, Rémi, Nowak, Jan, Begue, Bernadette, Rakotobe, Sabine, Bruneau, Julie, Fourrage, Cécile, Alibeu, Olivier, Rieux-Laucat, Frédéric, Lévy, Eva, Stolzenberg, Marie-Claude, Mazerolles, Fabienne, Latour, Sylvain, Lenoir, Christelle, Fischer, Alain, Picard, Capucine, Aloi, Marina, Amil Dias, Jorge, Ben Hariz, Mongi, Bourrier, Anne, Breuer, Christian, Breton, Anne, Buderus, Stephan, Cananzi, Mara, Coopman, Stéphanie, Crémilleux, Clara, Dabadie, Alain, Dumant-Forest, Clémentine, Egritas Gurkan, Odul, Fabre, Alexandre, Fischer, Aude, German Diaz, Marta, Gonzalez-Lama, Yago, Goulet, Olivier, Guariso, Graziella, Gurcan, Neslihan, Homan, Matjaz, Hugot, Jean-Pierre, Jeziorski, Eric, Karanika, Evi, Lachaux, Alain, Lewindon, Peter, Lima, Rosa, Magro, Fernando, Major, Janos, Malamut, Georgia, Mas, Emmanuel, Mattyus, Istvan, Mearin, Luisa M., Melek, Jan, Navas-Lopez, Victor Manuel, Paerregaard, Anders, Pelatan, Cecile, Pigneur, Bénédicte, Pinto Pais, Isabel, Rebeuh, Julie, Romano, Claudio, Siala, Nadia, Strisciuglio, Caterina, Tempia-Caliera, Michela, Tounian, Patrick, Turner, Dan, Urbonas, Vaidotas, Willot, Stéphanie, Ruemmele, Frank, Cerf-Bensussan, Nadine, N.
المساهمون: Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratory of Intestinal Immunity (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Poznan University of Medical Sciences Poland (PUMS), The Clinical Bioinformatics laboratory (Equipe Inserm U1163), Immunogenetics of pediatric autoimmune diseases (Equipe Inserm U1163), Lymphocyte activation and susceptibility to EBV (Equpie Inserm U1163), Collège de France (CdF (institution)), Université Paris Descartes - Paris 5 (UPD5), Università degli Studi di Roma "La Sapienza" = Sapienza University Rome (UNIROMA), Hospital de São João Porto, Centre Hospitalier Universitaire Mongi Slim La Marsa, CHU Saint-Antoine AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf Hamburg (UKE), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), University Hospital Motol Prague, University Hospital Bonn, Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Centre Hospitalier Universitaire de Saint-Etienne CHU Saint-Etienne (CHU ST-E), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Pontchaillou, Service de pédiatrie médicale et médecine de l'adolescent Rouen, CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Gazi University, Assistance Publique - Hôpitaux de Marseille (APHM), CHU Saint-Pierre, Hospital Universitario 12 de Octubre Madrid, Hospital Universitario Puerta de Hierro-Majadahonda Madrid, Spain, Università degli Studi di Padova = University of Padua (Unipd), University Medical Centre Ljubljana Ljubljana, Slovenia (UMCL), Inflammation intestinale pathologique de l'enfant, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), AP-HP Hôpital universitaire Robert-Debré Paris, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Pathogenesis and Control of Chronic and Emerging Infections (PCCEI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Université des Antilles (UA)-Etablissement français du don du sang Montpellier, General Hospital of Thessaloniki "Ippokrateio", Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Femme Mère Enfant CHU - HCL (HFME), Hospices Civils de Lyon (HCL), The University of Queensland (UQ All campuses : Brisbane, Dutton Park Gatton, Herston, St Lucia and other locations ), Universidade do Porto = University of Porto, Pál Heim Children's Hospital = Heim Pál Gyermekkórház Budapest, Hôpital Européen Georges Pompidou APHP (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Service de Gastroentérologie et pancréatologie CHU Toulouse, Pôle Maladies de l'appareil digestif CHU Toulouse, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service Gastroentérologie, hépatologie nutrition, diabétologie et maladies héréditaires du métabolisme pédiatrique CHU Toulouse, Pôle Enfants CHU Toulouse, Semmelweis University Budapest, Universiteit Leiden = Leiden University, University of Hradec Králové, Hospital Regional Universitario de Málaga = Regional University Hospital of Malaga Spain, Copenhagen University Hospital, Centre Hospitalier Le Mans (CH Le Mans), Centre Hospitalier Universitaire Strasbourg (CHU Strasbourg), Les Hôpitaux Universitaires de Strasbourg (HUS), Università degli Studi di Messina = University of Messina (UniMe), Seconda Università degli Studi di Napoli = Second University of Naples, CHU Trousseau APHP, Vilnius University Vilnius, CHU Trousseau Tours, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), This work was supported by ERC-2013-AdG-339407-IMMUNOBIOTA, Investissement d’Avenir ANR-10-IAHU-01, Fondation des Maladies Rares, and Association François Aupetit. FC-H was supported by a fellowship from INSERM. JN received a fellowship from the Polish National Science Centre 2015/16/T/NZ5/00168 ., The authors acknowledge the use of the bioresources of the Necker Imagine DNA biobank BB-033-00065 . They are grateful to the members of the Department of Clinical Research of the Imagine Institute, headed by Elisabeth Hullier-Ammar, for their guidance with ethical procedures, and to Pauline Touche for her help with the Immunobiota protocol., ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), European Project: 339407,EC:FP7:ERC,ERC-2013-ADG,IMMUNOBIOTA(2014)
المصدر: ISSN: 1873-9946.
مصطلحات موضوعية: Genetics and molecular epidemiology, Paediatrics, TNGS, Monogenic disorders, VEO-IBD, MESH: Adolescent, MESH: Age of Onset, MESH: Male, MESH: Predictive Value of Tests, MESH: Child, Preschool, MESH: Cohort Studies, MESH: Female, MESH: Hight-Throughput Nucleotide Sequencing, MESH: Humans, MESH: Infant, MESH: Inflammatory Bowel Diseases, [SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology
Relation: info:eu-repo/semantics/altIdentifier/pmid/29788237; info:eu-repo/grantAgreement/EC/FP7/339407/EU/Host-microbiota interactions across the gut immune system:lessons from early onset inflammatory bowel diseases and from gnotobiotic mice/IMMUNOBIOTA; PUBMED: 29788237; PUBMEDCENTRAL: PMC6113703; WOS: 000443561000013
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10Academic Journal
المؤلفون: Metz, Kyle A., Teng, Xinchen, Coppens, Isabelle, Lamb, Heather M., Wagner, Bart E., Rosenfeld, Jill A., Chen, Xianghui, Zhang, Yu, Kim, Hee Jong, Meadow, Michael E., Wang, Tim Sen, Haberlandt, Edda D., Anderson, Glenn W., Leshinsky‐silver, Esther, Bi, Weimin, Markello, Thomas C., Pratt, Marsha, Makhseed, Nawal, Garnica, Adolfo, Danylchuk, Noelle R., Burrow, Thomas A., Jayakar, Parul, Mcknight, Dianalee, Agadi, Satish, Gbedawo, Hatha, Stanley, Christine, Alber, Michael, Prehl, Isabelle, Peariso, Katrina, Ong, Min Tsui, Mordekar, Santosh R., Parker, Michael J., Crooks, Daniel, Agrawal, Pankaj B., Berry, Gerard T., Loddenkemper, Tobias, Yang, Yapin, Maegawa, Gustavo H. B., Aouacheria, Abdel, Markle, Janet G., Wohlschlegel, James A., Hartman, Adam L., Hardwick, J. Marie
المساهمون: Institut des Sciences de l'Evolution de Montpellier (UMR ISEM), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-École Pratique des Hautes Études (EPHE), Université Paris Sciences et Lettres (PSL)-Université Paris Sciences et Lettres (PSL)-Université de Montpellier (UM)-Institut de recherche pour le développement IRD : UR226-Centre National de la Recherche Scientifique (CNRS), R01 NS037402/NH/NIH HHS/United StatesR01 NS083373/NH/NIH HHS/United StatesT32 AI007417/AI/NIAID NIH HHS/United StatesCURE/CURE, Citizens United for Research in Epilepsy/United StatesR01 NS037402/NS/NINDS NIH HHS/United StatesR21 NS096677/NS/NINDS NIH HHS/United StatesK08 NS070931/NS/NINDS NIH HHS/United StatesK08 NS070931/NH/NIH HHS/United StatesR01 GM077875/GM/NIGMS NIH HHS/United StatesR01 GM089778/GM/NIGMS NIH HHS/United StatesR01 GM089778/NH/NIH HHS/United StatesR01 NS083373/NS/NINDS NIH HHS/United States
المصدر: ISSN: 0364-5134.
مصطلحات موضوعية: MESH: Age of Onset, MESH: Autophagy/genetics, MESH: Humans, MESH: Infant, MESH: Lysosomes/genetics, MESH: Lysosomes/pathology, MESH: Male, MESH: Mutation, MESH: Neurodegenerative Diseases/genetics, MESH: Neurodegenerative Diseases/pathology, MESH: Pedigree, MESH: Potassium Channels/deficiency, MESH: Potassium Channels/genetics, MESH: Saccharomyces cerevisiae Proteins/genetics, MESH: Child, Preschool, MESH: Female, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.BC]Life Sciences [q-bio]/Cellular Biology, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM]
Relation: hal-02347981; https://hal.science/hal-02347981; https://hal.science/hal-02347981/document; https://hal.science/hal-02347981/file/SubmittedManuscriptFigs_Aug2018.pdf
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11Academic Journal
المؤلفون: Zhang, Ming, Ferrari, Raffaele, Tartaglia, Maria Carmela, Keith, Julia, Surace, Ezequiel, I, Wolf, Uri, Sato, Christine, Grinberg, Mark, Liang, Yan, Xi, Zhengrui, Dupont, Kyle, Mcgoldrick, Philip, Weichert, Anna, Mckeever, Paul, M, Schneider, Raphael, Mccorkindale, Michael, D, Manzoni, Claudia, Rademakers, Rosa, Graff-Radford, Neill, R, Dickson, Dennis, W, Parisi, Joseph, E, Boeve, Bradley, F, Petersen, Ronald, C, Miller, Bruce, L, Seeley, William, W, van Swieten, John, C, van Rooij, Jeroen, Pijnenburg, Yolande, a L, van der Zee, Julie, van Broeckhoven, Christine, Le Ber, Isabelle, van Deerlin, Vivianna, Suh, Eunran, Rohrer, Jonathan, D, Mead, Simon, Graff, Caroline, Öijerstedt, Linn, Pickering-Brown, Stuart, Rollinson, Sara, Rossi, Giacomina, Tagliavini, Fabrizio, Brooks, William, S, Dobson-Stone, Carol, Halliday, Glenda, M, Hodges, John, R, Piguet, Olivier, Binetti, Giuliano, Benussi, Luisa, Ghidoni, Roberta, Nacmias, Benedetta, Sorbi, Sandro, Bruni, Amalia, C, Galimberti, Daniela, Scarpini, Elio, Rainero, Innocenzo, Rubino, Elisa, Clarimon, Jordi, Lleó, Alberto, Ruiz, Agustin, Hernández, Isabel, Pastor, Pau, Diez-Fairen, Monica, Borroni, Barbara, Pasquier, Florence, Deramecourt, Vincent, Lebouvier, Thibaud, Perneczky, Robert, Diehl-Schmid, Janine, Grafman, Jordan, Huey, Edward, D, Mayeux, Richard, Nalls, Michael, A, Hernandez, Dena, Singleton, Andrew, B, Momeni, Parastoo, Zeng, Zhen, Hardy, John, Robertson, Janice, Zinman, Lorne, Rogaeva, Ekaterina
المساهمون: Tongji University, Tanz Center Research in Neurodegenerative Diseases Toronto, University of Toronto, UCL Institute of Neurology, Queen Square London, Toronto Western Hospital, University of Reading (UOR), Mayo Clinic Jacksonville, Mayo Clinic Rochester, University of California San Francisco (UC San Francisco), University of California (UC), Erasmus University Medical Center Rotterdam (Erasmus MC), Alzheimer Center Amsterdam, VU University Medical Center Amsterdam, University of Antwerp (UA), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Perelman School of Medicine, University of Pennsylvania, Institute of Neurology London, University College of London London (UCL), MRC Prion Unit London, Karolinska Institutet Stockholm, Karolinska University Hospital Stockholm, University of Manchester Manchester, Fondazione IRCCS Istituto Neurologico "Carlo Besta", University of New South Wales Sydney (UNSW), The University of Sydney, Istituto Centro San Giovanni di Dio Fatebenefratelli, Partenaires INRAE, Università degli Studi di Firenze = University of Florence = Université de Florence (UniFI), Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Università degli studi di Torino = University of Turin (UNITO), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona = Autonomous University of Barcelona = Universidad Autónoma de Barcelona (UAB), Centro de Investigacion Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III Madrid (ISC), Universitat Internacional de Catalunya Barcelona (UIC), Hospital Universitari Mútua de Terrassa, Università degli Studi di Brescia = University of Brescia (UniBs), Troubles cognitifs dégénératifs et vasculaires - U 1171 - EA 1046 (TCDV), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Université de Lille-Université de Lille, Technische Universität Munchen - Technical University Munich - Université Technique de Munich (TUM), Northwestern University Chicago, Ill. USA, Feinberg School of Medicine, Northwestern University Evanston, Columbia University Medical Center (CUMC), Columbia University New York, National Institute on Aging Bethesda, USA (NIA), National Institutes of Health Bethesda, MD, USA (NIH), Sunnybrook Health Sciences Centre Toronto (Sunnybrook), ANR-10-IAHU-0006,IHU-A-ICM,Institut de Neurosciences Translationnelles de Paris(2010)
المصدر: ISSN: 0006-8950.
مصطلحات موضوعية: C9orf72 genetic association age of onset amyotrophic lateral sclerosis frontotemporal dementia, C9orf72, genetic association, age of onset, amyotrophic lateral sclerosis, frontotemporal dementia, MESH: Age of Onset, MESH: Aged, MESH: Heterozygote, MESH: Humans, MESH: Male, MESH: Middle Aged, MESH: Polymorphism, Single Nucleotide, MESH: Amyotrophic Lateral Sclerosis, MESH: C9orf72 Protein, MESH: CpG Islands, MESH: DNA Methylation, MESH: Female, MESH: Frontotemporal Dementia, MESH: Gene Expression Regulation, MESH: Genotype, [SDV]Life Sciences [q-bio]
Relation: info:eu-repo/semantics/altIdentifier/pmid/30252044; hal-04541446; https://hal.sorbonne-universite.fr/hal-04541446; https://hal.sorbonne-universite.fr/hal-04541446/document; https://hal.sorbonne-universite.fr/hal-04541446/file/awy238.pdf; PUBMED: 30252044; PUBMEDCENTRAL: PMC6158742
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12
المؤلفون: Frank Bellivier, Joséphine Loftus, Jan Scott, Florence Vorspan, Bruno Etain
المساهمون: Newcastle University [Newcastle], Université Paris Diderot - Paris 7 (UPD7), Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Optimisation thérapeutique en Neuropsychopharmacologie (OPTeN (UMR_S_1144 / U1144)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hôpital Princesse Grace [Monaco], Etain, Bruno
المصدر: Early intervention in psychiatry
Early intervention in psychiatry, 2022, 16 (8), pp.926-931. ⟨10.1111/eip.13237⟩مصطلحات موضوعية: Psychosis, medicine.medical_specialty, Bipolar Disorder, MESH: Age of Onset, [SDV.MHEP.PSM] Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, Pilot Projects, MESH: Comorbidity, Comorbidity, comorbidities, Group differences, Goodness of fit, MESH: Bipolar Disorder, mental disorders, Epidemiology, medicine, Humans, MESH: Mental Disorders, Age of Onset, Medical diagnosis, Biological Psychiatry, MESH: Humans, Illness trajectory, business.industry, illness trajectories, Mental Disorders, medicine.disease, MESH: Pilot Projects, Psychiatry and Mental health, Relative risk, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, Pshychiatric Mental Health, antecedents, business, Demography
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13Academic Journal
المؤلفون: Sproviero, William, Shatunov, Aleksey, Stahl, Daniel, Shoai, Maryam, van Rheenen, Wouter, Jones, Ashley, R, Al-Sarraj, Safa, Andersen, Peter, M, Bonini, Nancy, M, Conforti, Francesca, L, van Damme, Philip, Daoud, Hussein, del Mar Amador, Maria, Fogh, Isabella, Forzan, Monica, Gaastra, Ben, Gellera, Cinzia, Gitler, Aaron, D, Hardy, John, Fratta, Pietro, La Bella, Vincenzo, Le Ber, Isabelle, van Langenhove, Tim, Lattante, Serena, Lee, Yi-Chung, Malaspina, Andrea, Meininger, Vincent, Millecamps, Stéphanie, Orrell, Richard, Rademakers, Rosa, Robberecht, Wim, Rouleau, Guy, Ross, Owen, A, Salachas, Francois, Sidle, Katie, Smith, Bradley, N, Soong, Bing-Wen, Sorarù, Gianni, Stevanin, Giovanni, Kabashi, Edor, Troakes, Claire, van Broeckhoven, Christine, Veldink, Jan, H, van den Berg, Leonard, H, Shaw, Christopher, E, Powell, John, F, Al-Chalabi, Ammar
المساهمون: King‘s College London, Maurice Wohl Clinical Neuroscience Institut, University College of London London (UCL), University Medical Center Utrecht (UMCU), Umeå University = Umeå Universitet, University of Pennsylvania, Università di Cosenza, Catholic University of Leuven = Katholieke Universiteit Leuven (KU Leuven), McGill University = Université McGill Montréal, Canada, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Università degli Studi di Padova = University of Padua (Unipd), Instituto Neurologico C. Besta, Stanford School of Medicine Stanford, Stanford Medicine, Stanford University-Stanford University, Università degli studi di Palermo - University of Palermo, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), University of Antwerp (UA), National Yang Ming University (NYMU), Taipei Veterans General Hospital Taiwan, Barts Health NHS Trust London, UK, Mayo Clinic Jacksonville, École Pratique des Hautes Études (EPHE), Université Paris Sciences et Lettres (PSL)
المصدر: ISSN: 0197-4580 ; Neurobiology of Aging ; https://hal.sorbonne-universite.fr/hal-04406341 ; Neurobiology of Aging, 2017, 51, pp.178.e1-178.e9. ⟨10.1016/j.neurobiolaging.2016.11.010⟩.
مصطلحات موضوعية: ALS, ATXN2, Age of onset, Amyotrophic lateral sclerosis, CAG, Expansion, Exponential risk, Intermediate expansion, Risk, SCA2, Trinucleotide repeat, Triplet, MESH: Age of Onset, MESH: Alleles, MESH: Trinucleotide Repeat Expansion, MESH: Trinucleotide Repeats, MESH: Amyotrophic Lateral Sclerosis, MESH: Ataxin-2, MESH: Case-Control Studies, MESH: Female, MESH: Genetic Association Studies, MESH: Humans, MESH: Male, MESH: Risk, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Relation: info:eu-repo/semantics/altIdentifier/pmid/28017481; PUBMED: 28017481; PUBMEDCENTRAL: PMC5302215
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14Academic Journal
المؤلفون: Scott, Jan, Vorspan, Florence, Loftus, Josephine, Bellivier, Frank, Etain, Bruno
المساهمون: Newcastle University Newcastle, Université Paris Diderot - Paris 7 (UPD7), Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Optimisation thérapeutique en Neuropsychopharmacologie (OPTeN (UMR_S 1144 / U1144)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hôpital Princesse Grace Monaco
المصدر: ISSN: 1751-7885.
مصطلحات موضوعية: antecedents, comorbidities, illness trajectories, MESH: Age of Onset, MESH: Bipolar Disorder, MESH: Comorbidity, MESH: Humans, MESH: Mental Disorders, MESH: Pilot Projects, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health
Relation: info:eu-repo/semantics/altIdentifier/pmid/34816593; PUBMED: 34816593
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15Academic Journal
المؤلفون: Blanc-Lapierre, Audrey, Spence, Andrea, Karakiewicz, Pierre I, Aprikian, Armen, Saad, Fred, Parent, Marie-Élise
المساهمون: Armand-Frappier Santé Biotechnologie Research Centre (INRS-AFSB), Institut National de la Recherche Scientifique Québec (INRS)-Pasteur Network (Réseau International des Instituts Pasteur), Cancer Prognostics and Health Outcomes Unit, Université de Montréal (UdeM), Department of Urology Université de Montréal, McGill University Health Center Montreal (MUHC), This study was supported financially through grants from the Canadian Cancer Society, the Cancer Research Society, the Fonds de Recherche du Québec - Santé (FRQS), FRQS-RRSE, and the Ministère du Développement économique, de l'Innovation et de l'Exportation du Québec. Marie-Élise Parent and Pierre I. Karakiewicz have held career awards from the FRQS. Fred Saad holds the University of Montreal Endowed Chair in Prostate Cancer Research.
المصدر: ISSN: 1471-2458.
مصطلحات موضوعية: Metabolic syndrome, Prostate cancer, Case – control studies, Epidemiology, Risk factors, MESH: Adult, MESH: Age of Onset, MESH: Metabolic Syndrome X, MESH: Middle Aged, MESH: Obesity, Abdominal, MESH: Odds Ratio, MESH: Prevalence, MESH: Prostatic Neoplasms, MESH: Quebec, MESH: Risk Factors, MESH: Aged, MESH: Case-Control Studies, MESH: Diabetes Mellitus, Type 2, MESH: Dyslipidemias, MESH: Humans, MESH: Hypertension, MESH: Logistic Models, MESH: Male, [SDV]Life Sciences [q-bio], [SDV.CAN]Life Sciences [q-bio]/Cancer, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie
Relation: info:eu-repo/semantics/altIdentifier/pmid/26385727; PUBMED: 26385727; PUBMEDCENTRAL: PMC4574395
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16Academic Journal
المؤلفون: El Allali, Yasmine, Hermetet, Coralie, Bacchetta, Justine, Amouroux, Cyril, Rothenbuhler, Anya, Porquet-Bordes, Valérie, Champigny, Marie-Alexandrine, Baron, Sabine, Barat, Pascal, Bony-Trifunovic, Hélène, Bourdet, Karine, Busiah, Kanetee, Cartigny-Maciejewski, Maryse, Compain, Florence, Coutant, Regis, Amsellem-Jager, Jessica, de Kerdanet, Marc, Magontier, Nathalie, Mignot, Brigitte, Richard, Odile, Rossignol, Sylvie, Soskin, Sylvie, Berot, Aurélie, Naud-Saudreau, Catherine, Salles, Jean Pierre, Linglart, Agnes, Edouard, Thomas, Lienhardt-Roussie, Anne
المساهمون: Centre Hospitalier de Blois (CHB), CHU Trousseau Tours, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Hôpital Femme Mère Enfant CHU - HCL (HFME), Hospices Civils de Lyon (HCL), Physiopathologie, diagnostic et traitements des maladies osseuses / Pathophysiology, Diagnosis & Treatments of Bone Diseases (LYOS), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Département Pédiatrie CHRU Montpellier, Pôle Femme Mère Enfant CHRU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Hôpital Bicêtre AP-HP, Le Kremlin-Bicêtre, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de référence des maladies rares du métabolisme du calcium et du phosphate, Institut Toulousain des Maladies Infectieuses et Inflammatoires (Infinity), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Pédiatrie médicale CHU Limoges, CHU Limoges, Département de pédiatrie CHU Nantes, Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Centre Hospitalier Universitaire de Bordeaux (CHU Bordeaux), CHU Amiens-Picardie, CHRU de Brest - Département de Pédiatrie (CHU BREST Pédiatrie), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Service d'endocrinologie, gynécologie et diabétologie pédiatriques CHU Necker, Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'endocrinologie pédiatrique CHU Lille, Hôpital Jeanne de Flandre Lille -Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Centre hospitalier universitaire de Poitiers = Poitiers University Hospital (CHU de Poitiers La Milétrie ), Endocrinologie pédiatrique CHU Angers, Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Pontchaillou, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Centre Hospitalier Universitaire de Saint-Etienne CHU Saint-Etienne (CHU ST-E), Centre Hospitalier Universitaire Strasbourg (CHU Strasbourg), Les Hôpitaux Universitaires de Strasbourg (HUS), Hôpital universitaire Robert Debré Reims (CHU Reims), Université de Bretagne Sud - Lorient (UBS Lorient), Université de Bretagne Sud (UBS)
المصدر: ISSN: 0804-4643.
مصطلحات موضوعية: MESH: Adolescent, MESH: Age of Onset, MESH: Child, Preschool, MESH: Cohort Studies, MESH: Female, MESH: France / epidemiology, MESH: Genetic Association Studies, MESH: Genetic Predisposition to Disease, MESH: Humans, MESH: Hyperparathyroidism, Primary / diagnosis, Primary / epidemiology, Primary / genetics, Primary / pathology, MESH: Infant, Newborn, MESH: Male, MESH: Molecular Biology, MESH: Phenotype, MESH: Retrospective Studies, [SDV]Life Sciences [q-bio], [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics
Relation: info:eu-repo/semantics/altIdentifier/pmid/33361469; PUBMED: 33361469
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17Academic Journal
المؤلفون: Ernst, Michelle, Baugh, Evan, Thomas, Amanda, Bier, Louise, Lippa, Natalie, Stong, Nicholas, Mulhern, Maureen, Kushary, Sulagna, Akman, Cigdem, Heinzen, Erin, Yeh, Raymond, Bi, Weimin, Hanchard, Neil, Burrage, Lindsay, Leduc, Magalie, Chong, Josephine, Bend, Renee, Lyons, Michael, Lee, Jennifer, Suwannarat, Pim, Brilstra, Eva, Simon, Marleen, Koopmans, Marije, van Binsbergen, Ellen, Groepper, Daniel, Fleischer, Julie, Nava, Caroline, Keren, Boris, Mignot, Cyril, Mathieu, Sophie, Mancini, Grazia, Madan-Khetarpal, Suneeta, Infante, Elena, Bluvstein, Judith, Seeley, Andrea, Bachman, Kristine, Klee, Eric, Schultz-Rogers, Laura, Hasadsri, Linda, Barnett, Sarah, Ellingson, Marissa, Ferber, Matthew, Narayanan, Vinodh, Ramsey, Keri, Rauch, Anita, Joset, Pascal, Steindl, Katharina, Sheehan, Theodore, Poduri, Annapurna, Vasquez, Alejandra, Ruivenkamp, Claudia, White, Susan, Pais, Lynn, Monaghan, Kristin, Goldstein, David, Sands, Tristan, Aggarwal, Vimla
المساهمون: Columbia University Irving Medical Center (CUIMC), University of North Carolina at Chapel Hill NC, USA (UNC), Baylor College of Medicine (BCM), Baylor University, The Chinese University of Hong Kong Hong Kong (CUHK), The Greenwood Genetic Center, University Medical Center Utrecht (UMCU), Southern Illinois University School of Medicine, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Trousseau APHP, Erasmus University Medical Center Rotterdam (Erasmus MC), Children's Hospital of Pittsburgh of UPMC Etats-Unis, New York University School of Medicine, NYU System (NYU), Mayo Clinic Rochester, The Translational Genomics Research Institute (TGen), Universität Zürich Zürich = University of Zurich (UZH), Boston Children's Hospital, Harvard Medical School Boston (HMS), Leiden University Medical Center (LUMC), Universiteit Leiden = Leiden University, Murdoch Children's Research Institute (MCRI), University of Melbourne, Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School Boston (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital Boston, GeneDx Gaithersburg, MD, USA
المصدر: ISSN: 0013-9580.
مصطلحات موضوعية: CSNK2A1, CK2, MSNE, casein kinase II, generalized epilepsy, myoclonic seizures, myoclonic status epilepticus, MESH: Adolescent, MESH: Adult, MESH: Genetic Variation, MESH: Humans, MESH: Infant, MESH: Intellectual Disability, MESH: Male, MESH: Mutation, MESH: Phenotype, MESH: Status Epilepticus, MESH: Young Adult, MESH: Age of Onset, MESH: Child, Preschool, MESH: Developmental Disabilities, MESH: Epilepsies, Myoclonic, MESH: Epilepsy, Generalized, MESH: Exome, MESH: Female, [SDV]Life Sciences [q-bio]
Relation: info:eu-repo/semantics/altIdentifier/pmid/34041744; hal-04574838; https://hal.science/hal-04574838; PUBMED: 34041744; PUBMEDCENTRAL: PMC9189716
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18Academic Journal
المؤلفون: Yu, Eric, Rudakou, Uladzislau, Krohn, Lynne, Mufti, Kheireddin, Ruskey, Jennifer, Asayesh, Farnaz, Estiar, Mehrdad, Spiegelman, Dan, Surface, Matthew, Fahn, Stanley, Waters, Cheryl, Greenbaum, Lior, Espay, Alberto, Dauvilliers, Yves, Dupré, Nicolas, Rouleau, Guy, Hassin-Baer, Sharon, Fon, Edward, Alcalay, Roy, Gan-Or, Ziv
المساهمون: Montreal Neurological Institute and Hospital, McGill University = Université McGill Montréal, Canada, Columbia University College of Physicians and Surgeons, Columbia University Medical Center (CUMC), Columbia University New York, Chaim Sheba Medical Center, Kfar Saba and Sackler School of Medicine, Tel Aviv University (TAU), Hôpital Gui de Chauliac CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Centre Hospitalier Université Laval Quebec (CHUL), CHU de Québec–Université Laval, Université Laval Québec (ULaval)-Université Laval Québec (ULaval)
المصدر: ISSN: 0885-3185.
مصطلحات موضوعية: Parkinson's disease, copy-number variation, association study, genetics, neurodegeneration, MESH: Age of Onset, MESH: DNA Copy Number Variations, MESH: Female, MESH: Heterozygote, MESH: Humans, MESH: Male, MESH: Mutation, MESH: Parkinson Disease, MESH: Ubiquitin-Protein Ligases, [SDV]Life Sciences [q-bio]
Relation: info:eu-repo/semantics/altIdentifier/pmid/32970363; hal-03653056; https://hal.science/hal-03653056; MEDRXIV: 2020.05.07.20072728; PUBMED: 32970363
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19Academic Journal
المؤلفون: Delplanque, Jérôme, Devos, David, Huin, Vincent, Genet, Alexandre, Sand, Olivier, Moreau, Caroline, Goizet, Cyril, Charles, Perrine, Anheim, Mathieu, Monin, Marie Lorraine, Buée, Luc, Destée, Alain, Grolez, Guillaume, Delmaire, Christine, Dujardin, Kathy, Dellacherie, Delphine, Brice, Alexis, Stevanin, Giovanni, Strubi-Vuillaume, Isabelle, Durr, Alexandra, Sablonnière, Bernard
المساهمون: Metabolic functional (epi)genomics and molecular mechanisms involved in type 2 diabetes and related diseases - UMR 8199 - UMR 1283 (EGENODIA (GI3M)), Institut Pasteur de Lille, Pasteur Network (Réseau International des Instituts Pasteur)-Pasteur Network (Réseau International des Instituts Pasteur)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U837 (JPArc), Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Département de neurologie Lille, Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Pôle de Biologie Pathologie Génétique CHU Lille, Maladies Rares - Génétique et Métabolisme (MRGM), Université Bordeaux Segalen - Bordeaux 2-Centre Hospitalier Universitaire de Bordeaux (CHU Bordeaux)-Hôpital Pellegrin, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre for Integrative Biology (CBI), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Departement de Neuroradiologie Lille, Service de neurologie pédiatrique CHU Lille, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), École Pratique des Hautes Études (EPHE), Université Paris Sciences et Lettres (PSL), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM), ANR-10-EQPX-0007,LIGAN PM,Plate forme Lilloise de séquençage du génome humain pour une médecine personnalisée(2010)
المصدر: ISSN: 0006-8950.
مصطلحات موضوعية: Spinocerebellar ataxia, TMEM240, exome, MESH: Adolescent, MESH: Age of Onset, MESH: Spinocerebellar Degenerations / psychology, MESH: Young Adult, MESH: Intellectual Disability / psychology, MESH: Child, Preschool, MESH: Chromosomes, Human, Pair 1 / genetics, MESH: Cognition Disorders / genetics, MESH: Exome / genetics, MESH: Cognition Disorders / psychology, MESH: Cohort Studies, MESH: Conserved Sequence, MESH: Mutation / physiology, MESH: Female, MESH: France, MESH: Genetic Linkage, MESH: Intelligence Tests, MESH: Humans, MESH: Infant, MESH: Intellectual Disability / genetics, MESH: Amino Acid Sequence, MESH: Introns, MESH: Male, MESH: Neuropsychological Tests
Relation: info:eu-repo/semantics/altIdentifier/arxiv/2011.10771; info:eu-repo/semantics/altIdentifier/pmid/25070513; ARXIV: 2011.10771; PUBMED: 25070513
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20Academic Journal
المساهمون: Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Faculty of Medicine, Imperial College London, Institute of Psychiatry, Queen Mary University of London (QMUL)-King‘s College London, Novartis
المصدر: ISSN: 0002-953X.
مصطلحات موضوعية: agoraphobia, anxiety, depression, suicidal ideation, elderly, longitudinal study, MESH: Age Factors, MESH: Age of Onset, MESH: Male, MESH: Panic Disorder, MESH: Prevalence, MESH: Risk Factors, MESH: Aged, 80 and over, MESH: Agoraphobia, MESH: Female, MESH: France, MESH: Humans, MESH: Incidence, MESH: Interview, Psychological, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, [SDV.MHEP.GEG]Life Sciences [q-bio]/Human health and pathology/Geriatry and gerontology
Relation: info:eu-repo/semantics/altIdentifier/pmid/23820832; inserm-00908016; https://inserm.hal.science/inserm-00908016; https://inserm.hal.science/inserm-00908016/document; https://inserm.hal.science/inserm-00908016/file/Ritchie_Am_J_Psychiatry170790.pdf; PUBMED: 23820832