المؤلفون: Isabelle Boothman, Lisa M. Clayton, Mark McCormack, Alexandra McKibben Driscoll, Remi Stevelink, Patrick Moloney, Roland Krause, Wolfram S. Kunz, Sarah Diehl, Terence J. O’Brien, Graeme J. Sills, Gerrit-Jan de Haan, Federico Zara, Bobby P. Koeleman, Chantal Depondt, Anthony G. Marson, Hreinn Stefansson, Kari Stefansson, John Craig, Michael R. Johnson, Pasquale Striano, Holger Lerche, Simon J. Furney, Norman Delanty, Consortium EpiPGX, Sanjay M. Sisodiya, Gianpiero L. Cavalleri, Joseph Willis, Mojgansadat Borghei, Simona Donatello, Martin J. Brodie, Pauls Auce, Andrea Jorgensen, Sarah R. Langley, Yvonne Weber, Christian Hengsbach, Martin Krenn, Fritz Zimprich, Ekaterina Pataraia, Karl Martin Klein, Hiltrud Muhle, Rikke S. Møller, Marina Nikanorova, Stefan Wolking, Ellen Campbell, Antonella Riva, Marcello Scala

المصدر: Frontiers in Neuroscience, Vol 17 (2023)

مصطلحات موضوعية: adverse drug reaction, epilepsy, retina, genome wide association study, polygenic risk score, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2023.1156362/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/9ba7aecc0196466792d32bdb7c7d0945

المؤلفون: Mahmoud Koko, Roland Krause, Thomas Sander, Dheeraj Reddy Bobbili, Michael Nothnagel, Patrick May, Holger Lerche, Epi25 Collaborative, Gianpiero Cavalleri, Norman Delanty

مصطلحات موضوعية: Genetics, Central nervous system, Neurology and neuromuscular diseases, Burden analysis, Epilepsy, Exome sequencing, Gene-sets, Ultra-rare variants, URVs, epileptogenesis, genome-wide association studies (GWAS), neuro-developmental disorders (NDDs), genetic generalized epilepsies (GGEs), non-acquired focal epilepsies (NAFEs), developmental and epileptic encephalopathies (DEE), Missense URVs, focal epilepsies, risk-variants

Relation: 10779/rcsi.24512872.v1; https://figshare.com/articles/journal_contribution/Distinct_gene-set_burden_patterns_underlie_common_generalized_and_focal_epilepsies/24512872

الاتاحة: https://figshare.com/articles/journal_contribution/Distinct_gene-set_burden_patterns_underlie_common_generalized_and_focal_epilepsies/24512872

المؤلفون: Johanna Krüger, Julian Schubert, Josua Kegele, Audrey Labalme, Miaomiao Mao, Jacqueline Heighway, Guiscard Seebohm, Pu Yan, Mahmoud Koko, Kezban Aslan-Kara, Hande Caglayan, Bernhard J. Steinhoff, Yvonne G. Weber, Pascale Keo-Kosal, Samuel F. Berkovic, Michael S. Hildebrand, Steven Petrou, Roland Krause, Patrick May, Gaetan Lesca, Snezana Maljevic, Holger Lerche

المصدر: EBioMedicine, Vol 84, Iss , Pp 104244- (2022)

مصطلحات موضوعية: KCNQ5, Genetic generalized epilepsy, Exome sequencing, Loss-of-function, Patch-clamp, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396422004261; https://doaj.org/toc/2352-3964

URL الوصول: https://doaj.org/article/aa9f823e4e9b426daf63245606235ec0

المؤلفون: Stefan Wolking, Claudia Moreau, Mark McCormack, Roland Krause, Martin Krenn, EpiPGx Consortium, Samuel Berkovic, Gianpiero L. Cavalleri, Norman Delanty, Chantal Depondt, Michael R. Johnson, Bobby P. C. Koeleman, Wolfram S. Kunz, Holger Lerche, Anthony G. Marson, Terence J. O’Brien, Slave Petrovski, Josemir W. Sander, Graeme J. Sills, Pasquale Striano, Federico Zara, Fritz Zimprich, Sanjay M. Sisodiya, Simon L. Girard, Patrick Cossette

المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 7, Pp 1376-1387 (2021)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/483d5fc6a76a46ce8fb02fcec7fc8db0

المؤلفون: Dennis Lal, Patrick May, Eduardo Perez-Palma, Kaitlin E. Samocha, Jack A. Kosmicki, Elise B. Robinson, Rikke S. Møller, Roland Krause, Peter Nürnberg, Sarah Weckhuysen, Peter De Jonghe, Renzo Guerrini, Lisa M. Niestroj, Juliana Du, Carla Marini, EuroEPINOMICS-RES Consortium, James S. Ware, Mitja Kurki, Padhraig Gormley, Sha Tang, Sitao Wu, Saskia Biskup, Annapurna Poduri, Bernd A. Neubauer, Bobby P. C. Koeleman, Katherine L. Helbig, Yvonne G. Weber, Ingo Helbig, Amit R. Majithia, Aarno Palotie, Mark J. Daly

المصدر: Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2020)

مصطلحات موضوعية: Paralogs, Gene family, Conservation, Missense variants, Neurodevelopmental disorders, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13073-020-00725-6; https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/45a19bc663e847f68db119e08f35c85f

المؤلفون: Mahmoud Koko, Roland Krause, Thomas Sander, Dheeraj Reddy Bobbili, Michael Nothnagel, Patrick May, Holger Lerche

المصدر: EBioMedicine, Vol 72, Iss , Pp 103588- (2021)

مصطلحات موضوعية: Burden analysis, Ultra-rare variants, Gene-sets, Epilepsy, Exome sequencing, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396421003819; https://doaj.org/toc/2352-3964

URL الوصول: https://doaj.org/article/75699a2b380747bc94f6ea212dbb81c3

المؤلفون: Sinéad B. Heavin, Mark McCormack, Stefan Wolking, Lisa Slattery, Nicole Walley, Andreja Avbersek, Jan Novy, Saurabh R. Sinha, Rod Radtke, Colin Doherty, Pauls Auce, John Craig, Michael R. Johnson, Bobby P. C. Koeleman, Roland Krause, Wolfram S. Kunz, Anthony G. Marson, Terence J. O'Brien, Josemir W. Sander, Graeme J. Sills, Hreinn Stefansson, Pasquale Striano, Federico Zara, EPIGEN Consortium, EpiPGX Consortium, Chantal Depondt, Sanjay Sisodiya, David Goldstein, Holger Lerche, Gianpiero L. Cavalleri, Norman Delanty

المصدر: Epilepsia Open, Vol 4, Iss 4, Pp 563-571 (2019)

مصطلحات موضوعية: GWAS, lacosamide, pharmacogenomics, pharmacoresistance, refractory, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2470-9239

URL الوصول: https://doaj.org/article/7ae7a2327ac4494c96ca814b3ce3c63f

المؤلفون: Katri Silvennoinen, Nikola deLange, Sara Zagaglia, Simona Balestrini, Ganna Androsova, Merel Wassenaar, Pauls Auce, Andreja Avbersek, Felicitas Becker, Bianca Berghuis, Ellen Campbell, Antonietta Coppola, Ben Francis, Stefan Wolking, Gianpiero L. Cavalleri, John Craig, Norman Delanty, Michael R. Johnson, Bobby P. C. Koeleman, Wolfram S. Kunz, Holger Lerche, Anthony G. Marson, Terence J. O’Brien, Josemir W. Sander, Graeme J. Sills, Pasquale Striano, Federico Zara, Job van derPalen, Roland Krause, Chantal Depondt, Sanjay M. Sisodiya, the EpiPGX Consortium

المصدر: Epilepsia Open, Vol 4, Iss 3, Pp 420-430 (2019)

مصطلحات موضوعية: seizures, tolerability, adverse drug reactions, valproate, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2470-9239

URL الوصول: https://doaj.org/article/7e0bae26f0854a818290ffd6aefbb5da

المؤلفون: Stefan Wolking, Ciarán Campbell, Caragh Stapleton, Mark McCormack, Norman Delanty, Chantal Depondt, Michael R. Johnson, Bobby P. C. Koeleman, Roland Krause, Wolfram S. Kunz, Anthony G. Marson, Josemir W. Sander, Graeme J. Sills, Pasquale Striano, Federico Zara, Sanjay M. Sisodiya, Gianpiero L. Cavalleri, Holger Lerche, EpiPGX Consortium

المصدر: Frontiers in Pharmacology, Vol 12 (2021)

مصطلحات موضوعية: drug-resistant epilepsies, polygenic risk score (PRS), GWAS, anti-seizure medication (ASM), single nucelotide polymorphisms, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphar.2021.688386/full; https://doaj.org/toc/1663-9812

URL الوصول: https://doaj.org/article/78987acf68884737b5ff6ca6d0770371

المؤلفون: Kim T Gurwitz, Prakash Singh Gaur, Louisa J Bellis, Lee Larcombe, Eva Alloza, Balint Laszlo Balint, Alexander Botzki, Jure Dimec, Victoria Dominguez Del Angel, Pedro L Fernandes, Eija Korpelainen, Roland Krause, Mateusz Kuzak, Loredana Le Pera, Brane Leskošek, Jessica M Lindvall, Diana Marek, Paula A Martinez, Tuur Muyldermans, Ståle Nygård, Patricia M Palagi, Hedi Peterson, Fotis Psomopoulos, Vojtech Spiwok, Celia W G van Gelder, Allegra Via, Marko Vidak, Daniel Wibberg, Sarah L Morgan, Gabriella Rustici

المصدر: PLoS Computational Biology, Vol 16, Iss 7, p e1007976 (2020)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-734X; https://doaj.org/toc/1553-7358

URL الوصول: https://doaj.org/article/3b4fa506a1d845a1ae7b825a25d82921

المؤلفون: Leyla Garcia, Bérénice Batut, Melissa L Burke, Mateusz Kuzak, Fotis Psomopoulos, Ricardo Arcila, Teresa K Attwood, Niall Beard, Denise Carvalho-Silva, Alexandros C Dimopoulos, Victoria Dominguez Del Angel, Michel Dumontier, Kim T Gurwitz, Roland Krause, Peter McQuilton, Loredana Le Pera, Sarah L Morgan, Päivi Rauste, Allegra Via, Pascal Kahlem, Gabriella Rustici, Celia W G van Gelder, Patricia M Palagi

المصدر: PLoS Computational Biology, Vol 16, Iss 5, p e1007854 (2020)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-734X; https://doaj.org/toc/1553-7358

URL الوصول: https://doaj.org/article/076c5999d13d41318e459708c1a9096b

المؤلفون: Alexandra Holinski, Alexia Cardona, Alice Matimba, Allegra Via, Anastasios Anastasios Papaioannou, Anna Swan, Bruna Piereck, Celia van Gelder, Daniel Thomas Lopez, Daniel Wibberg, Fred de Lamotte, Geert van Geest, Helen Clare, Helena Schnitzer, Hélène Chiapello, Iryna Kuchma, Iulianna van der Lek, Kathryn Unsworth, Krzys Poterlowicz, Leyla Jael Castro, Lisanna Paladin, Loredana Le Pera, Lucie Khamvongsa-Charbonnier, Maja Rey, Marcela Davila, Maria Doyle, Marta Lloret, Melissa Burke, Michelle D Brazas, Monique Zahn, Nazeefa Fatima, Nicola Mulder, Olivier Sand, Patricia Carvajal Lopez, Patricia M. Palagi, Rachel Berkson, Renato Alves, Roland KRAUSE, Russell Schwartz, Sara El-Gebali, Sarah Morgan, Saskia Hiltemann, Shaun Aron, Steven Morgan, Suzanne Duce, Tarcisio Mendes de Farias, Vera Matser, Verena Ras, Wai Keat Yam

Relation: https://github.com/elixir-europe-training/ELIXIR-TrP-FAIR-training-handbook/tree/v1.0.0; https://doi.org/10.5281/zenodo.8239503; https://doi.org/10.5281/zenodo.10839551; oai:zenodo.org:10839551

الاتاحة: https://doi.org/10.5281/zenodo.10839551

المؤلفون: Michael Keck, Ganna Androsova, Fabio Gualtieri, Andreas Walker, Eva-Lotta von Rüden, Vera Russmann, Cornelia A. Deeg, Stefanie M. Hauck, Roland Krause, Heidrun Potschka

المصدر: Neurobiology of Disease, Vol 105, Iss , Pp 164-178 (2017)

مصطلحات موضوعية: Status epilepticus, WGCNA, Epilepsy, Network, Mass spectrometry, Bioinformatics, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996117301274; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/b09bb45ef2fc4963888a49748a876b56

المؤلفون: Schijven D., Stevelink R., McCormack M., van Rheenen W., Luykx J. J., Koeleman B. P. C., Veldink J. H., Aleksey Shatunov, Russell L. McLaughlin, Rick A. A. van der Spek, Alfredo Iacoangeli, Kevin P. Kenna, Kristel R. van Eijk, Nicola Ticozzi, Boris Rogelj, Katarina Vrabec, Metka Ravnik-Glavač, Blaž Koritnik, Janez Zidar, Lea Leonardis, Leja Dolenc Grošelj, Stéphanie Millecamps, François Salachas, Vincent Meininger, Mamede de Carvalho, Susana Pinto, Marta Gromicho, Ana Pronto-Laborinho, Jesus S. Mora, Ricardo Rojas-García, Meraida Polak, Siddharthan Chandran, Shuna Colville, Robert Swingler, Karen E. Morrison, Pamela J. Shaw, John Hardy, Richard W. Orrell, Alan Pittman, Katie Sidle, Pietro Fratta, Andrea Malaspina, Simon Topp, Susanne Petri, Susanna Abdulla, Carsten Drepper, Michael Sendtner, Thomas Meyer, Roel A. Ophoff, Kim A. Staats, Martina Wiedau-Pazos, Catherine Lomen-Hoerth, Vivianna M. Van Deerlin, John Q. Trojanowski, Lauren Elman, Leo McCluskey, A. Nazli Basak, Thomas Meitinger, Peter Lichtner, Milena Blagojevic-Radivojkov, Christian R. Andres, Gilbert Bensimon, Bernhard Landwehrmeyer, Alexis Brice, Christine A. M. Payan, Safaa Saker-Delye, Alexandra Dürr, Nicholas W. Wood, Lukas Tittmann, Wolfgang Lieb, Andre Franke, Marcella Rietschel, Sven Cichon, Markus M. Nöthen, Philippe Amouyel, Christophe Tzourio, Jean-François Dartigues, Andre G. Uitterlinden, Fernando Rivadeneira, Karol Estrada, Albert Hofman, Charles Curtis, Anneke J. van der Kooi, Markus Weber, Christopher E. Shaw, Bradley N. Smith, Daisy Sproviero, Cristina Cereda, Mauro Ceroni, Luca Diamanti, Roberto Del Bo, Stefania Corti, Giacomo P. Comi, Sandra D'Alfonso, Lucia Corrado, Cinzia Bertolin, Gianni Sorarù, Letizia Mazzini, Viviana Pensato, Cinzia Gellera, Cinzia Tiloca, Antonia Ratti, Andrea Calvo, Cristina Moglia, Maura Brunetti, Simona Arcuti, Rosa Capozzo, Chiara Zecca, Christian Lunetta, Silvana Penco, Nilo Riva, Alessandro Padovani, Massimiliano Filosto, Ian Blair, Garth A. Nicholson, Dominic B. Rowe, Roger Pamphlett, Matthew C. Kiernan, Julian Grosskreutz, Otto W. Witte, Robert Steinbach, Tino Prell, Beatrice Stubendorff, Ingo Kurth, Christian A. Hübner, P. Nigel Leigh, Federico Casale, Adriano Chio, Ettore Beghi, Elisabetta Pupillo, Rosanna Tortelli, Giancarlo Logroscino, John Powell, Albert C. Ludolph, Jochen H. Weishaupt, Wim Robberecht, Philip Van Damme, Robert H. Brown, Jonathan D. Glass, John E. Landers, Orla Hardiman, Peter M. Andersen, Philippe Corcia, Patrick Vourc'h, Vincenzo Silani, Michael A. van Es, R. Jeroen Pasterkamp, Cathryn M. Lewis, Gerome Breen, Ammar Al-Chalabi, Leonard H. van den Berg, Jan H. Veldink, Daniela Calini, Isabella Fogh, Barbara Castellotti, Franco Taroni, Stella Gagliardi, Giacomo Comi, Sandra D’Alfonso, Elena Pegoraro, Giorgia Querin, Francesca Gerardi, Fabrizio Rinaldi, Maria Sofia Cotelli, Luca Chiveri, Maria Cristina Guaita, Patrizia Perrone, Giancarlo Comi, Carlo Ferrarese, Lucio Tremolizzo, Marialuisa Delodovici, Giorgio Bono, Stefania Cammarosano, Antonio Canosa, Dario Cocito, Leonardo Lopiano, Luca Durelli, Bruno Ferrero, Antonio Bertolotto, Alessandro Mauro, Luca Pradotto, Roberto Cantello, Enrica Bersano, Dario Giobbe, Maurizio Gionco, Daniela Leotta, Lucia Appendino, Cavallo Cavallo, Enrico Odddenino, Claudio Geda, Fabio Poglio, Paola Santimaria, Umberto Massazza, Antonio Villani, Roberto Conti, Fabrizio Pisano, Mario Palermo, Franco Vergnano, Paolo Provera, Maria Teresa Penza, Marco Aguggia, Nicoletta Di Vito, Piero Meineri, Ilaria Pastore, Paolo Ghiglione, Danilo Seliak, Nicola Launaro, Giovanni Astegiano, Bottacchi Edo, Isabella Laura Simone, Stefano Zoccolella, Michele Zarrelli, Franco Apollo, William Camu, Jean Sebastien Hulot, Francois Viallet, Philippe Couratier, David Maltete, Christine Tranchant, Marie Vidailhet, Bassel Abou-Khalil, Pauls Auce, Andreja Avbersek, Melanie Bahlo, David J Balding, Thomas Bast, Larry Baum, Albert J Becker, Felicitas Becker, Bianca Berghuis, Samuel F Berkovic, Katja E Boysen, Jonathan P Bradfield, Lawrence C Brody, Russell J Buono, Ellen Campbell, Gregory D Cascino, Claudia B Catarino, Gianpiero L Cavalleri, Stacey S Cherny, Krishna Chinthapalli, Alison J Coffey, Alastair Compston, Antonietta Coppola, Patrick Cossette, John J Craig, Gerrit-Jan de Haan, Peter De Jonghe, Carolien G F de Kovel, Norman Delanty, Chantal Depondt, Orrin Devinsky, Dennis J Dlugos, Colin P Doherty, Christian E Elger, Johan G Eriksson, Thomas N Ferraro, Martha Feucht, Ben Francis, Jacqueline A French, Saskia Freytag, Verena Gaus, Eric B Geller, Christian Gieger, Tracy Glauser, Simon Glynn, David B Goldstein, Hongsheng Gui, Youling Guo, Kevin F Haas, Hakon Hakonarson, Kerstin Hallmann, Sheryl Haut, Erin L Heinzen, Ingo Helbig, Christian Hengsbach, Helle Hjalgrim, Michele Iacomino, Andrés Ingason, Michael R Johnson, Reetta Kälviäinen, Anne-Mari Kantanen, Dalia Kasperavičiūte, Dorothee Kasteleijn-Nolst Trenite, Heidi E Kirsch, Robert C Knowlton, Bobby P C Koeleman, Roland Krause, Martin Krenn, Wolfram S Kunz, Ruben Kuzniecky, Patrick Kwan, Dennis Lal, Yu-Lung Lau, Anna-Elina Lehesjoki, Holger Lerche, Costin Leu, Dick Lindhout, Warren D Lo, Iscia Lopes-Cendes, Daniel H Lowenstein, Alberto Malovini, Anthony G Marson, Thomas Mayer, Mark McCormack, James L Mills, Nasir Mirza, Martina Moerzinger, Rikke S Møller, Anne M Molloy, Hiltrud Muhle, Mark Newton, Ping-Wing Ng, Markus M Nöthen, Peter Nürnberg, Terence J O’Brien, Karen L Oliver, Aarno Palotie, Faith Pangilinan, Sarah Peter, Slavé Petrovski, Annapurna Poduri, Michael Privitera, Rodney Radtke, Sarah Rau, Philipp S Reif, Eva M Reinthaler, Felix Rosenow, Josemir W Sander, Thomas Sander, Theresa Scattergood, Steven C Schachter, Christoph J Schankin, Ingrid E Scheffer, Bettina Schmitz, Susanne Schoch, Pak C Sham, Jerry J Shih, Graeme J Sills, Sanjay M Sisodiya, Lisa Slattery, Alexander Smith, David F Smith, Michael C Smith, Philip E Smith, Anja C M Sonsma, Doug Speed, Michael R Sperling, Bernhard J Steinhoff, Ulrich Stephani, Remi Stevelink, Konstantin Strauch, Pasquale Striano, Hans Stroink, Rainer Surges, K Meng Tan, Liu Lin Thio, G Neil Thomas, Marian Todaro, Rossana Tozzi, Maria S Vari, Eileen P G Vining, Frank Visscher, Sarah von Spiczak, Nicole M Walley, Yvonne G Weber, Zhi Wei, Judith Weisenberg, Christopher D Whelan, Peter Widdess-Walsh, Markus Wolff, Stefan Wolking, Wanling Yang, Federico Zara, Fritz Zimprich

المساهمون: D., Schijven, R., Stevelink, M., Mccormack, W., van Rheenen, J. J., Luykx, B. P. C., Koeleman, J. H., Veldink, Shatunov, Aleksey, Mclaughlin, Russell L., van der Spek, Rick A. A., Iacoangeli, Alfredo, Kenna, Kevin P., van Eijk, Kristel R., Ticozzi, Nicola, Rogelj, Bori, Vrabec, Katarina, Ravnik-Glavač, Metka, Koritnik, Blaž, Zidar, Janez, Leonardis, Lea, Dolenc Grošelj, Leja, Millecamps, Stéphanie, Salachas, Françoi, Meininger, Vincent, de Carvalho, Mamede, Pinto, Susana, Gromicho, Marta, Pronto-Laborinho, Ana, 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, Susanna, Drepper, Carsten, Sendtner, Michael, Meyer, Thoma, Ophoff, Roel A., Staats, Kim A., Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, Van Deerlin, Vivianna M., Trojanowski, John Q., Elman, Lauren, Mccluskey, Leo, Nazli Basak, A., Meitinger, Thoma, Lichtner, Peter, Blagojevic-Radivojkov, Milena, Andres, Christian R., Bensimon, Gilbert, Landwehrmeyer, Bernhard, Brice, Alexi, Payan, Christine A. M., Saker-Delye, Safaa, Dürr, Alexandra, Wood, Nicholas W., Tittmann, Luka, Lieb, Wolfgang, Franke, Andre, Rietschel, Marcella, Cichon, Sven, Nöthen, Markus M., Amouyel, Philippe, Tzourio, Christophe, Dartigues, Jean-Françoi, Uitterlinden, Andre G., Rivadeneira, Fernando, Estrada, Karol, Hofman, Albert, Curtis, Charle, van der Kooi, Anneke J., Weber, Marku, Shaw, Christopher E., Smith, Bradley N., Sproviero, Daisy, Cereda, Cristina, Ceroni, Mauro, Diamanti, Luca, Del Bo, Roberto, Corti, Stefania, Comi, Giacomo P., D'Alfonso, Sandra, Corrado, Lucia, Bertolin, Cinzia, Sorarù, Gianni, Mazzini, Letizia, Pensato, Viviana, Gellera, Cinzia

مصطلحات موضوعية: ALS, Epilepsy, Genetic correlation, Amyotrophic Lateral Sclerosi, Gene Frequency, Human, Risk, Genetic Variation, Genome-Wide Association Study, Negative Results

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/32409253; info:eu-repo/semantics/altIdentifier/wos/WOS:000539467300016; volume:92; firstpage:153; numberofpages:8; journal:NEUROBIOLOGY OF AGING; http://hdl.handle.net/11577/3443731; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084453564

الاتاحة: http://hdl.handle.net/11577/3443731
https://doi.org/10.1016/j.neurobiolaging.2020.04.011

المؤلفون: Oluyomi M, Adesoji, Herbert, Schulz, Patrick, May, Roland, Krause, Holger, Lerche, Michael, Nothnagel

المصدر: Human Mutation. 43:1314-1332

مصطلحات موضوعية: Benchmarking, Epilepsy, Phenotype, Genetics, Humans, Bayes Theorem, Genetic Pleiotropy, Polymorphism, Single Nucleotide, Genetics (clinical), Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::807544eb9ff5310cefd1b36f011322b3
https://doi.org/10.1002/humu.24417

المؤلفون: Borja Gomez Ramos, Jochen Ohnmacht, Nikola de Lange, Aurélien Ginolhac, Elena Valceschini, Aleksandar Rakovic, Rashi Halder, Francois Massart, Christine Klein, Roland Krause, Marcel Schulz, Thomas Sauter, Rejko Krueger, Lasse Sinkkonen

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4e82d5b7ba0106f39777c89cfac9d365
https://doi.org/10.15252/rc.2023216473

المؤلفون: Borja Gomez Ramos, Jochen Ohnmacht, Nikola de Lange, Aurélien Ginolhac, Elena Valceschini, Aleksandar Rakovic, Rashi Halder, François Massart, Christine Klein, Roland Krause, Marcel H. Schulz, Thomas Sauter, Rejko Krüger, Lasse Sinkkonen

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5cf29981961bd6b312f1d61426cd9fd5
https://doi.org/10.1101/2023.01.27.525898

المؤلفون: Patricia Palagi, olisand, Melissa Burke, Bruna Piereck, annaswan1, Geert van Geest, Helene Chiapello, Iulianna van der Lek, lkhamvongsa, Lisanna Paladin, Allegra Via, Fred de Lamotte, HelenaSchnitzer, Roland Krause, Martin Cook, Sara, dwibberg, m-zahn

Relation: https://github.com/elixir-europe-training/ELIXIR-TrP-FAIR-training-handbook/tree/v0.1.0; https://doi.org/10.5281/zenodo.8239503; https://doi.org/10.5281/zenodo.8239504; oai:zenodo.org:8239504

الاتاحة: https://doi.org/10.5281/zenodo.8239504

المؤلفون: Alexandra Holinski, Alexia Cardona, Alice Matimba, Allegra Via, Anastasios Anastasios Papaioannou, Anna Swan, Bruna Piereck, Celia van Gelder, Daniel Thomas Lopez, Daniel Wibberg, Fred de Lamotte, Geert van Geest, Helen Clare, Helena Schnitzer, Hélène Chiapello, Iryna Kuchma, Iulianna van der Lek, Kathryn Unsworth, Krzys Poterlowicz, Leyla Jael Castro, Lisanna Paladin, Loredana Le Pera, Lucie Khamvongsa-Charbonnier, Maja Rey, Marcela Davila, Maria Doyle, Marta Lloret, Melissa Burke, Michelle D Brazas, Monique Zahn, Nazeefa Fatima, Nicola Mulder, Olivier Sand, Patricia Carvajal Lopez, Patricia M. Palagi, Rachel Berkson, Renato Alves, Roland KRAUSE, Russell Schwartz, Sara El-Gebali, Sarah Morgan, Saskia Hiltemann, Shaun Aron, Steven Morgan, Suzanne Duce, Tarcisio Mendes de Farias, Vera Matser, Verena Ras, Wai Keat Yam

Relation: https://github.com/elixir-europe-training/ELIXIR-TrP-FAIR-training-handbook/tree/v0.1.4; https://doi.org/10.5281/zenodo.8239503; https://doi.org/10.5281/zenodo.8239572; oai:zenodo.org:8239572

الاتاحة: https://doi.org/10.5281/zenodo.8239572

المؤلفون: Isabelle Boothman, Lisa M. Clayton, Mark McCormack, Alexandra McKibben Driscoll, Remi Stevelink, Patrick Moloney, Roland Krause, Wolfram S. Kunz, Sarah Diehl, Terence J. O’Brien, Graeme J. Sills, Gerrit-Jan de Haan, Federico Zara, Bobby P. Koeleman, Chantal Depondt, Anthony G. Marson, Hreinn Stefansson, Kari Stefansson, John Craig, Michael R. Johnson, Pasquale Striano, Holger Lerche, Simon J. Furney, Norman Delanty, EpiPGX Consortium, Sanjay M. Sisodiya, Gianpiero L. Cavalleri

مصطلحات موضوعية: Neuroscience, Biological Engineering, Developmental Biology, Stem Cells, Artificial Intelligence and Image Processing, Endocrinology, Radiology and Organ Imaging, Autonomic Nervous System, Cellular Nervous System, Central Nervous System, Sensory Systems, Clinical Nursing: Tertiary (Rehabilitative), Decision Making, Rehabilitation Engineering, Biomedical Engineering not elsewhere classified, Signal Processing, Neurogenetics, Image Processing, adverse drug reaction, epilepsy, retina, genome wide association study, polygenic risk score

Relation: https://figshare.com/articles/dataset/Data_Sheet_1_Testing_for_pharmacogenomic_predictors_of_ppRNFL_thinning_in_individuals_exposed_to_vigabatrin_docx/24104778

الاتاحة: https://doi.org/10.3389/fnins.2023.1156362.s001
https://figshare.com/articles/dataset/Data_Sheet_1_Testing_for_pharmacogenomic_predictors_of_ppRNFL_thinning_in_individuals_exposed_to_vigabatrin_docx/24104778