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1دورية أكاديمية
المؤلفون: van Rheenen, Wouter, van der Spek, Rick AA, Bakker, Mark K, van Vugt, Joke JFA, Hop, Paul J, Zwamborn, Ramona AJ, de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B, Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M, Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs HP, van Eijk, Kristel R, Kooyman, Maarten, Byrne, Ross P, Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N, Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E, Shaw, Pamela J, Hardy, John, Orrell, Richard W, Sendtner, Michael, Meyer, Thomas, Başak, Nazli, van der Kooi, Anneke J, Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D’Alfonso, Sandra, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H, Bell, Shaughn, Vourc’h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stéphanie, Meininger, Vincent, Salachas, François, Mora Pardina, Jesus S, Assialioui, Abdelilah, Rojas-García, Ricardo, Dion, Patrick A, Ross, Jay P, Ludolph, Albert C, Weishaupt, Jochen H, Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine AM, Saker-Delye, Safa, Wood, Nicholas W, Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, Kraft, Julia
المصدر: Nature Genetics. 53(12)
مصطلحات موضوعية: Human Genome, Neurodegenerative, Clinical Research, Rare Diseases, Prevention, ALS, Neurosciences, Genetics, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Neurological, Amyotrophic Lateral Sclerosis, Brain, Cholesterol, Disease Progression, Female, Genome-Wide Association Study, Glutamine, Humans, Male, Mendelian Randomization Analysis, Microsatellite Repeats, Mutation, Neurodegenerative Diseases, Neurons, Quantitative Trait Loci, RNA-Seq, Risk Factors, SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium, Biological Sciences, Medical and Health Sciences, Developmental Biology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/07c2z7v3
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2دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
3دورية أكاديمية
المؤلفون: Lim, Tiong Y., Perpiñán, Elena, Londoño, Maria-Carlota, Miquel, Rosa, Ruiz, Paula, Kurt, Ada S., Kodela, Elisavet, Cross, Amy R., Berlin, Claudia, Hester, Joanna, Issa, Fadi, Douiri, Abdel, Volmer, Felix H., Taubert, Richard, Williams, Evangelia, Demetris, Anthony J., Lesniak, Andrew, Bensimon, Gilbert, Lozano, Juan José, Martinez-Llordella, Marc, Tree, Tim, Sánchez-Fueyo, Alberto
المصدر: In Journal of Hepatology January 2023 78(1):153-164
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4دورية أكاديميةGenome‐wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy
المؤلفون: Chen, Zhongbo, Chen, Jason A, Shatunov, Aleksey, Jones, Ashley R, Kravitz, Stephanie N, Huang, Alden Y, Lawrence, Lauren, Lowe, Jennifer K, Lewis, Cathryn M, Payan, Christine AM, Lieb, Wolfgang, Franke, Andre, Deloukas, Panagiotis, Amouyel, Philippe, Tzourio, Christophe, Dartigues, Jean‐François, Groups, NNIPPS and BBBIPPS Study, Ludolph, Albert, Bensimon, Gilbert, Leigh, P Nigel, Bronstein, Jeff M, Coppola, Giovanni, Geschwind, Daniel H, Al‐Chalabi, Ammar
المصدر: Movement Disorders. 34(7)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Prevention, Clinical Research, Neurodegenerative, Genetics, Brain Disorders, Rare Diseases, Genetic Testing, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adult, Age of Onset, Aged, Aged, 80 and over, DNA Copy Number Variations, Female, Genome-Wide Association Study, Genotype, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Supranuclear Palsy, Progressive, tau Proteins, copy number variation, genome-wide association study, progressive supranuclear palsy, NNIPPS and BBBIPPS Study Groups, Human Movement and Sports Sciences, Neurology & Neurosurgery, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/1fg3g3t6
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5دورية أكاديمية
المؤلفون: Chen, Jason A, Chen, Zhongbo, Won, Hyejung, Huang, Alden Y, Lowe, Jennifer K, Wojta, Kevin, Yokoyama, Jennifer S, Bensimon, Gilbert, Leigh, P Nigel, Payan, Christine, Shatunov, Aleksey, Jones, Ashley R, Lewis, Cathryn M, Deloukas, Panagiotis, Amouyel, Philippe, Tzourio, Christophe, Dartigues, Jean-Francois, Ludolph, Albert, Boxer, Adam L, Bronstein, Jeff M, Al-Chalabi, Ammar, Geschwind, Daniel H, Coppola, Giovanni
المصدر: Molecular neurodegeneration. 13(1)
مصطلحات موضوعية: Humans, Supranuclear Palsy, Progressive, Neurodegenerative Diseases, Genetic Predisposition to Disease, Genotype, Polymorphism, Single Nucleotide, Female, Male, Genome-Wide Association Study, Genome-wide association study, Neurodegeneration, Progressive supranuclear palsy, Supranuclear Palsy, Progressive, Polymorphism, Single Nucleotide, Prevention, Clinical Trials and Supportive Activities, Neurodegenerative, Rare Diseases, Genetics, Human Genome, Clinical Research, 2.1 Biological and endogenous factors, Neurological, Clinical Sciences, Neurosciences, Neurology & Neurosurgery
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/79n4d1xn
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6دورية أكاديمية
المؤلفون: van Rheenen, Wouter, Shatunov, Aleksey, Dekker, Annelot M, McLaughlin, Russell L, Diekstra, Frank P, Pulit, Sara L, van der Spek, Rick AA, Võsa, Urmo, de Jong, Simone, Robinson, Matthew R, Yang, Jian, Fogh, Isabella, van Doormaal, Perry Tc, Tazelaar, Gijs HP, Koppers, Max, Blokhuis, Anna M, Sproviero, William, Jones, Ashley R, Kenna, Kevin P, van Eijk, Kristel R, Harschnitz, Oliver, Schellevis, Raymond D, Brands, William J, Medic, Jelena, Menelaou, Androniki, Vajda, Alice, Ticozzi, Nicola, Lin, Kuang, Rogelj, Boris, Vrabec, Katarina, Ravnik-Glavač, Metka, Koritnik, Blaž, Zidar, Janez, Leonardis, Lea, Grošelj, Leja Dolenc, Millecamps, Stéphanie, Salachas, François, Meininger, Vincent, de Carvalho, Mamede, Pinto, Susana, Mora, Jesus S, Rojas-García, Ricardo, Polak, Meraida, Chandran, Siddharthan, Colville, Shuna, Swingler, Robert, Morrison, Karen E, Shaw, Pamela J, Hardy, John, Orrell, Richard W, Pittman, Alan, Sidle, Katie, Fratta, Pietro, Malaspina, Andrea, Topp, Simon, Petri, Susanne, Abdulla, Susanne, Drepper, Carsten, Sendtner, Michael, Meyer, Thomas, Ophoff, Roel A, Staats, Kim A, Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, Van Deerlin, Vivianna M, Trojanowski, John Q, Elman, Lauren, McCluskey, Leo, Basak, A Nazli, Tunca, Ceren, Hamzeiy, Hamid, Parman, Yesim, Meitinger, Thomas, Lichtner, Peter, Radivojkov-Blagojevic, Milena, Andres, Christian R, Maurel, Cindy, Bensimon, Gilbert, Landwehrmeyer, Bernhard, Brice, Alexis, Payan, Christine AM, Saker-Delye, Safaa, Dürr, Alexandra, Wood, Nicholas W, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Rietschel, Marcella, Cichon, Sven, Nöthen, Markus M, Amouyel, Philippe, Tzourio, Christophe, Dartigues, Jean-François, Uitterlinden, Andre G, Rivadeneira, Fernando, Estrada, Karol, Hofman, Albert, Curtis, Charles, Blauw, Hylke M
المصدر: Nature genetics. 48(9)
مصطلحات موضوعية: PARALS Registry, SLALOM Group, SLAP Registry, FALS Sequencing Consortium, SLAGEN Consortium, NNIPPS Study Group, Humans, Amyotrophic Lateral Sclerosis, Genetic Predisposition to Disease, Proteins, Cytoskeletal Proteins, Myelin Proteins, Case-Control Studies, Cohort Studies, Mutation, Netherlands, Munc18 Proteins, Genome-Wide Association Study, Neurosciences, Rare Diseases, Brain Disorders, Biotechnology, Prevention, Human Genome, Neurodegenerative, Genetics, ALS, Aetiology, 2.1 Biological and endogenous factors, Biological Sciences, Medical and Health Sciences, Developmental Biology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/22r175sv
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7دورية أكاديمية
المؤلفون: van Rheenen, WouterAff1, IDs41588022010203_cor1, van der Spek, Rick A. A., Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Zwamborn, Ramona A. J., de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B., Deelen, PatrickAff2, Aff3, Shireby, Gemma, Hannon, Eilis, Moisse, MatthieuAff5, Aff6, Aff7, Baird, DenisAff8, Aff9, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M., Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, AlfredoAff14, Aff15, Aff16, Shatunov, Aleksey, Ticozzi, NicolaAff17, Aff18, Cooper-Knock, Johnathan, Smith, Bradley N., Gromicho, Marta, Chandran, SiddharthanAff21, Aff22, Pal, SuvankarAff21, Aff22, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, Başak, Nazli, van der Kooi, Anneke J., Ratti, AntoniaAff17, Aff30, Fogh, Isabella, Gellera, Cinzia, Lauria, GiuseppeAff32, Aff33, Corti, StefaniaAff18, Aff34, Cereda, Cristina, Sproviero, Daisy, D’Alfonso, Sandra, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, AdrianoAff40, Aff41, Calvo, AndreaAff40, Aff41, Moglia, CristinaAff40, Aff41, Brunetti, Maura, Canosa, AntonioAff40, Aff41, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, AlmaAff45, Aff46, Nordin, Angelica, Lerner, YossefAff48, Aff49, Zabari, MichalAff48, Aff49, Gotkine, MarcAff48, Aff49, Baloh, Robert H.Aff50, Aff51, Bell, ShaughnAff50, Aff51, Vourc’h, PatrickAff52, Aff53, Corcia, PhilippeAff53, Aff54, Couratier, PhilippeAff55, Aff56, Millecamps, Stéphanie, Meininger, Vincent, Salachas, FrançoisAff57, Aff59, Mora Pardina, Jesus S., Assialioui, Abdelilah, Rojas-García, Ricardo, Dion, Patrick A.Aff63, Aff64, Ross, Jay P.Aff63, Aff65, Ludolph, Albert C., Weishaupt, Jochen H., Brenner, David, Freischmidt, AxelAff66, Aff68, Bensimon, GilbertAff69, Aff70, Aff71, Aff72, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, StephanAff79, Aff80, Aff81, Braun, Alice, Kraft, Julia, Whiteman, David C., Olsen, Catherine M., Uitterlinden, Andre G.Aff83, Aff84, Hofman, Albert, Rietschel, MarcellaAff85, Aff86, Cichon, SvenAff87, Aff88, Aff89, Aff90, Nöthen, Markus M.Aff87, Aff88, Amouyel, Philippe, Traynor, Bryan J.Aff92, Aff93, Singleton, Andrew B., Mitne Neto, Miguel, Cauchi, Ruben J., Ophoff, Roel A.Aff97, Aff98, Aff99, Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, van Deerlin, Vivianna M., Grosskreutz, JulianAff103, Aff104, Roediger, Annekathrin, Gaur, Nayana, Jörk, Alexander, Barthel, Tabea, Theele, Erik, Ilse, Benjamin, Stubendorff, Beatrice, Witte, Otto W., Steinbach, Robert, Hübner, Christian A., Graff, Caroline, Brylev, LevAff107, Aff108, Aff109, Fominykh, VeraAff107, Aff109, Demeshonok, Vera, Ataulina, Anastasia, Rogelj, BorisAff111, Aff112, Aff113, Koritnik, Blaž, Zidar, Janez, Ravnik-Glavač, Metka, Glavač, Damjan, Stević, Zorica, Drory, VivianAff44, Aff118, Povedano, Monica, Blair, Ian P., Kiernan, Matthew C., Benyamin, BebenAff10, Aff121, Henderson, Robert D.Aff122, Aff123, Furlong, Sarah, Mathers, Susan, McCombe, Pamela A.Aff123, Aff125, Needham, MerrileeAff126, Aff127, Aff128, Ngo, Shyuan T.Aff122, Aff123, Aff125, Nicholson, Garth A.Aff119, Aff129, Aff130, Pamphlett, Roger, Rowe, Dominic B., Steyn, Frederik J.Aff123, Aff132, Williams, Kelly L., Mather, Karen A.Aff133, Aff134, Sachdev, Perminder S.Aff133, Aff135, Henders, Anjali K., Wallace, Leanne, de Carvalho, Mamede, Pinto, Susana, Petri, Susanne, Weber, Markus, Rouleau, Guy A.Aff63, Aff64, Aff65, Silani, VincenzoAff17, Aff18, Curtis, Charles J.Aff137, Aff138, Breen, GeromeAff137, Aff138, Glass, Jonathan D., Brown, Jr., Robert H., Landers, John E., Shaw, Christopher E., Andersen, Peter M., Groen, Ewout J. N., van Es, Michael A., Pasterkamp, R. Jeroen, Fan, Dongsheng, Garton, Fleur C., McRae, Allan F., Davey Smith, GeorgeAff9, Aff143, Gaunt, Tom R.Aff9, Aff143, Eberle, Michael A., Mill, Jonathan, McLaughlin, Russell L., Hardiman, Orla, Kenna, Kevin P.Aff1, Aff141, Wray, Naomi R.Aff10, Aff125, Tsai, Ellen, Runz, Heiko, Franke, Lude, Al-Chalabi, AmmarAff14, Aff144, Van Damme, PhilipAff5, Aff6, Aff7, van den Berg, Leonard H., Veldink, Jan H.Aff1, IDs41588022010203_cor196
المصدر: Nature Genetics. 54(3):361-361
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8دورية أكاديمية
المؤلفون: Fang, Ton, Al Khleifat, Ahmad, Meurgey, Jacques-Henri, Jones, Ashley, Leigh, P Nigel, Bensimon, Gilbert, Al-Chalabi, Ammar
المصدر: In The Lancet Neurology May 2018 17(5):416-422
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9دورية أكاديمية
المؤلفون: Hartemann, Agnès, Bensimon, Gilbert, Payan, Christine A, Jacqueminet, Sophie, Bourron, Olivier, Nicolas, Nathalie, Fonfrede, Michèle, Rosenzwajg, Michelle, Bernard, Claude, Klatzmann, David
المصدر: In The Lancet Diabetes & Endocrinology December 2013 1(4):295-305
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10
المؤلفون: Hop, Paul J., Zwamborn, Ramona A. J., Hannon, Eilis, Shireby, Gemma L., Nabais, Marta F., Walker, Emma M., van Rheenen, Wouter, van Vugt, Joke J. F. A., Dekker, Annelot M., Westeneng, Henk-Jan, Tazelaar, Gijs H. P., Slagboom, P. Eline, Beekman, Marian, Deelen, Joris, van Heemst, Diana, Veldink, Jan H., van den Berg, Leonard H., van Duijn, Cornelia M., Hofman, Bert A., Isaacs, Aaron, Uitterlinden, Andre G., van Eijk, Kristel R., van Meurs, Joyce, Jhamai, P. Mila, Verbiest, Michael, Suchiman, H. Eka D., Verkerk, Marijn, van der Breggen, Ruud, van Rooij, Jeroen, Lakenberg, Nico, Mei, Hailiang, van Iterson, Maarten, Moisse, Matthieu, van Galen, Michiel, Bot, Jan, Zhernakova, Dasha V., Jansen, Rick, van ‘t Hof, Peter, Deelen, Patrick, Nooren, Irene, t Hoen, Peter A. C., Heijmans, Bastiaan T., Moed, Matthijs, Baird, Denis, Franke, Lude, Vermaat, Martijn, Luijk, Rene, Jan Bonder, Marc, van Dijk, Freerk, Arindrarto, Wibowo, Al Khleifat, Ahmad, Kielbasa, Szymon M., Swertz, Morris A., van Zwet, Erik W., Al-Chalabi, Ammar, Wray, Naomi R., Bensimon, Gilbert, Hardiman, Orla, Iacoangeli, Alfredo, Chio, Adriano, Smith, George Davey, Mill, Jonathan, Ticozzi, Nicola, Ratti, Antonia, Cooper-Knock, Jonathan, Morrison, Karen E., Shaw, Pamela J., Basak, A. Nazli, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Canosa, Antonio, Brunetti, Maura, Grassano, Maurizio, Gotkine, Marc, Lerner, Yossef, Zabari, Michal, Vourc’h, Patrick, Corcia, Philippe, Couratier, Philippe, Mora Pardina, Jesus S., Salas, Teresa, Dion, Patrick, Ross, Jay P., Henderson, Robert D., Mathers, Susan, McCombe, Pamela A., Needham, Merrilee, Nicholson, Garth, Rowe, Dominic B., Pamphlett, Roger, Mather, Karen A., Sachdev, Perminder S., Furlong, Sarah, Garton, Fleur C., Henders, Anjali K., Lin, Tian, Ngo, Shyuan T., Steyn, Frederik J., Wallace, Leanne, Williams, Kelly L., Neto, Miguel Mitne, Cauchi, Ruben J., Blair, Ian P., Kiernan, Matthew C., Drory, Vivian, Povedano, Monica, Carvalho, Mamede, Pinto, Susana, Weber, Markus, Rouleau, Guy A., Silani, Vincenzo, Landers, John E., Shaw, Christopher E., Andersen, Peter M., McRae, Allan F., van Es, Michael A., Pasterkamp, R. Jeroen, McLaughlin, Russell L., Kenna, Kevin P., Tsai, Ellen, Runz, Heiko, Van Damme, Philip, Boomsma, Dorret I., Pool, Rene, van Dongen, Jenny, Hottenga, Joukje J., van Greevenbroek, Marleen M. J., Stehouwer, Coen D.A., van der Kallen, Carla J.H., Schalkwijk, Casper G., Wijmenga, Cisca, Zhernakova, Sasha, Tigchelaar, Ettje F.
المساهمون: Stem Cell Aging Leukemia and Lymphoma (SALL), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Translational Immunology Groningen (TRIGR), Psychiatry, Amsterdam Neuroscience - Complex Trait Genetics, Laboratory Medicine, APH - Mental Health, Internal Medicine, Epidemiology, Repositório da Universidade de Lisboa
المصدر: Science Translational Medicine, 14(633):eabj0264. AMER ASSOC ADVANCEMENT SCIENCE
Science Translational Medicine, 14(633):eabj0264. American Association for the Advancement of Science
Hop, P J, Zwamborn, R A J, Hannon, E, Shireby, G L, Nabais, M F, Walker, E M, van Rheenen, W, van Vugt, J J F A, Dekker, A M, Westeneng, H J, Tazelaar, G H P, van Eijk, K R, Moisse, M, Baird, D, Al Khleifat, A, Iacoangeli, A, Ticozzi, N, Ratti, A, Cooper-Knock, J, Morrison, K E, Shaw, P J, Basak, A N, Chiò, A, Calvo, A, Moglia, C, Canosa, A, Brunetti, M, Grassano, M, Gotkine, M, Lerner, Y, Zabari, M, Vourc'H, P, Corcia, P, Couratier, P, Mora Pardina, J S, Salas, T, Dion, P, Ross, J P, Henderson, R D, Mathers, S, McCombe, P A, Needham, M, Nicholson, G, Rowe, D B, Pamphlett, R, Mather, K A, Sachdev, P S & Furlong, S & Shaw, C E & Al-Chalabi, A 2022, ' Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS ', Science Translational Medicine, vol. 14, no. 633, eabj0264 . https://doi.org/10.1126/scitranslmed.abj0264
Science Translational Medicine, 14633
BIOS Consortium 2022, ' Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS ', Science Translational Medicine, vol. 14, no. 633, eabj0264, pp. eabj0264 . https://doi.org/10.1126/scitranslmed.abj0264
Sci Transl Medمصطلحات موضوعية: Cholesterol, Amyotrophic Lateral Sclerosis, Humans, Neurodegenerative Diseases, General Medicine, DNA Methylation, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], Article, Epigenesis, Genetic, Genome-Wide Association Study
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04495e1fac05acb2703581971447b8c1
https://hdl.handle.net/11370/70304f9f-5b0d-47ff-a7fa-be1edbd253ff