المؤلفون: Yilmaz, Rüstem, Grehl, Torsten, Eckrich, Lukas, Marschalkowski, Ines, Weishaupt, Kanchi, Valkadinov, Ivan, Simic, Melita, Brenner, David, Andersen, Peter M., 1962, Wolf, Joachim, Weishaupt, Jochen H.

المصدر: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 24(5-6):414-419

مصطلحات موضوعية: Amyotrophic lateral sclerosis, motor neuron disease, neurodegeneration, neurogenetics, sporadic ALS

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-204513Test
https://doi.org/10.1080/21678421.2023.2165946Test
https://umu.diva-portal.org/smash/get/diva2:1734847/FULLTEXT02.pdfTest

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

الوصول الحر: https://escholarship.org/uc/item/07c2z7v3Test

المؤلفون: Brenner, David, Müller, Kathrin, Lattante, Serena, Yilmaz, Rüstem, Knehr, Antje, Freischmidt, Axel, Ludolph, Albert C., Andersen, Peter M., 1962, Weishaupt, Jochen H.

المصدر: Neurogenetics. 23:59-65

مصطلحات موضوعية: ALS, Amyotrophic lateral sclerosis, Frontotemporal dementia, FTD, FUS, TBK1

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-187747Test
https://doi.org/10.1007/s10048-021-00671-4Test
https://umu.diva-portal.org/smash/get/diva2:1595736/FULLTEXT02.pdfTest

المؤلفون: Dorst, Johannes, Weydt, Patrick, Brenner, David, Witzel, Simon, Kandler, Katharina, Huss, André, Herrmann, Christine, Wiesenfarth, Maximilian, Knehr, Antje, Günther, Kornelia, Müller, Kathrin, Weishaupt, Jochen H., Prudlo, Johannes, Forsberg, Karin, Andersen, Peter M., 1962, Rosenbohm, Angela, Schuster, Joachim, Roselli, Francesco, Dupuis, Luc, Mayer, Benjamin, Tumani, Hayrettin, Kassubek, Jan, Ludolph, Albert C.

المصدر: EBioMedicine. 90

مصطلحات موضوعية: Amyotrophic lateral sclerosis, Metabolic, Metabolism, Mutations carriers, Presymptomatic

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-206371Test
https://doi.org/10.1016/j.ebiom.2023.104521Test
https://umu.diva-portal.org/smash/get/diva2:1748792/FULLTEXT01.pdfTest

المؤلفون: Brenner, David, Müller, Kathrin, Lattante, Serena, Yılmaz, Rüstem, Knehr, Antje, Freischmidt, Axel, Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H.

مصطلحات موضوعية: Amyotrophic lateral sclerosis, ALS, Frontotemporal dementia, FTD, TBK1, FUS, DDC 570 / Life sciences, DDC 610 / Medicine & health

وصف الملف: application/pdf

العلاقة: https://link.springer.com/article/10.1007/s10048-021-00671-4#Sec12Test; http://dx.doi.org/10.18725/OPARU-50984Test; https://oparu.uni-ulm.de/xmlui/123456789/51060Test; http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-51060-4Test

الإتاحة: https://doi.org/10.18725/OPARU-50984Test
https://oparu.uni-ulm.de/xmlui/123456789/51060Test
http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-51060-4Test

المؤلفون: Ruf, Wolfgang P, Boros, Matej, Weyen, Ute, Guenther, Rene, Regensburger, Martin, Hagenacker, Tim, Koch, Jan C, Emmer, Alexander, Roediger, Annekathrin, Steinbach, Robert, Wolf, Joachim, Weishaupt, Jochen H, Freischmidt, Axel-Dieter, Lingor, Paul, Deschauer, Marcus, Cordts, Isabell, Klopstock, Thomas, Reilich, Peter, Schoeberl, Florian, Schrank, Berthold, Zeller, Daniel, Hermann, Andreas, Knehr, Antje, Brenner, David, Günther, Kornelia, Dorst, Johannes, Schuster, Joachim, Siebert, Reiner, Ludolph, Albert C, Müller, Kathrin, Grozdanov, Veselin, de Meirelles, Joao, Meyer, Thomas, Grehl, Torsten, Petri, Susanne, Grosskreutz, Julian

المصدر: Brain communications 5(3), fcad152 (2023). doi:10.1093/braincomms/fcad152

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, amyotrophic lateral sclerosis, genetics, motor neuron disease

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/issn/2632-1297; info:eu-repo/semantics/altIdentifier/pmid/pmid:37223130; https://pub.dzne.de/record/258242Test; https://pub.dzne.de/search?p=id:%22DZNE-2023-00588%22Test

الإتاحة: https://doi.org/10.1093/braincomms/fcad152Test
https://pub.dzne.de/record/258242Test
https://pub.dzne.de/search?p=id:%22DZNE-2023-00588%22Test

المؤلفون: Freischmidt, Axel, Brenner, David, Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H.

مصطلحات موضوعية: ALS, FTD, TBK1, neuroinflammation, genetic variants, DDC 150 / Psychology, DDC 610 / Medicine & health, Amyotrophic lateral sclerosis, Frontotemporal dementia, Neuroinflammatory diseases, Genetic counseling, Myatrophische Lateralsklerose, Frontotemporale Demenz, Nervenentzündung, Genetische Beratung

وصف الملف: application/pdf

العلاقة: http://dx.doi.org/10.18725/OPARU-43341Test; https://oparu.uni-ulm.de/xmlui/123456789/43417Test; http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-43417-5Test

الإتاحة: https://doi.org/10.18725/OPARU-43341Test
https://oparu.uni-ulm.de/xmlui/123456789/43417Test
http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-43417-5Test

المؤلفون: Freischmidt, Axel, Brenner, David, Ludolph, Albert C., Andersen, Peter M., 1962, Weishaupt, Jochen H.

المصدر: Frontiers in Neuroscience. 14

مصطلحات موضوعية: amyotrophic lateral sclerosis, ALS, frontotemporal dementia, FTD, TBK1, neuroinflammation, genetic counseling, genetic variants

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-176167Test
https://doi.org/10.3389/fnins.2020.551006Test
https://umu.diva-portal.org/smash/get/diva2:1478362/FULLTEXT01.pdfTest

المؤلفون: Brenner, David, Müller, Kathrin, Lattante, Serena, Yilmaz, Rüstem, Knehr, Antje, Freischmidt, Axel, Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H.

المصدر: http://lobid.org/resources/99370672695206441Test#!, 23(1):59-65.

مصطلحات موضوعية: Mutation [MeSH], Amyotrophic lateral sclerosis, RNA-Binding Protein FUS/genetics [MeSH], Humans [MeSH], Protein Serine-Threonine Kinases/genetics [MeSH], TBK1, Original Article, Pedigree [MeSH], FUS, FTD, ALS, Amyotrophic Lateral Sclerosis/genetics [MeSH], Frontotemporal dementia, Frontotemporal Dementia/genetics [MeSH]

العلاقة: https://repository.publisso.de/resource/frl:6446341Test; https://doi.org/10.1007/s10048-021-00671-4Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8782814Test/

الإتاحة: https://doi.org/10.1007/s10048-021-00671-4Test
https://repository.publisso.de/resource/frl:6446341Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8782814Test/

المؤلفون: Rheenen, Wouter van, Spek, Rick A. A. van der, Bakker, Mark K., Vugt, Joke J. F. A. van, Hop, Paul J., Zwamborn, Ramona A. J., Klein, Niek de, Westra, Harm Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Siciliano, Gabriele, Petri, Susanne, Breen, Gerome, Weber, Markus, Rouleau, Guy A., Rojas García, Ricardo, Silani, Vincenzo, Amouyel, Philippe, Ghiglione, Paolo, Davey Smith, George, Needham, Merrilee, Curtis, Charles J., Shatunov, Aleksey, Mill, Jonathan, Mclaughlin, Russell L., Filosto, Massimiliano, Comi, Cristoforo, Gerfo, Annalisa lo, Ferlini, Alessandra, Riva, Nilo, Mora Pardina, Jesus S., Ceroni, Mauro, Chiveri, Luca, Hardiman, Orla, Torrieri, Maria Claudia, Kenna, Kevin P., Wray, Naomi R., Tsai, Ellen, Runz, Heiko, Franke, Lude, Padovani, Alessandro, Chandran, Siddharthan, Simoncini, Costanza, Al Chalabi, Ammar, Assialioui, Abdelilah, Labate, Carmelo, Damme, Philip van, Ticozzi, Nicola, Palumbo, Francesca, Inghilleri, Maurizio, Chiò, Adriano, Pal, Suvankar, Lunetta, Christian, Gagliardi, Stella, Jörk, Alexander, Cichon, Sven, Kraft, Julia, Morrison, Karen E., Ruiz, Luigi, Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, Corrado, Lucia, Dion, Patrick A., Calvo, Andrea, Kooyman, Maarten, Başak, Nazli, Gerardi, Francesca, Simone, Isabella L., Kooi, Anneke J. van der, Ratti, Antonia, Ferrandi, Delfina, Garton, Fleur C., Fogh, Isabella, Ludolph, Albert C., Moglia, Cristina, Brunetti, Maura, Diamanti, Luca, Barthel, Tabea, Blair, Ian P., Es, Michael A. van, Gallone, Salvatore, Canosa, Antonio, Mazzini, Letizia, Guerra, Vito, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Ferrarese, Carlo, Nefussy, Beatrice, Theele, Erik, Rinaldi, Fabrizio, Weishaupt, Jochen H., Westeneng, Henk Jan, Kiernan, Matthew C., Barberis, Marco, Osmanovic, Alma, Baloh, Robert H., Nordin, Angelica, Lerner, Yossef, Vito, Nicoletta di, Zabari, Michal, Zoccolella, Stefano, Heverin, Mark, Ross, Jay P., Gotkine, Marc, Guaita, Maria Cristina, Brenner, David, Freischmidt, Axel, Sbaiz, Luca, Benyamin, Beben, Glass, Jonathan D., Landers, John E., Tazelaar, Gijs H. P., Rota, Eugenia, Valluzzi, Francesco, Bensimon, Gilbert, Ilse, Benjamin, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Gentile, Salvatore, Moisse, Matthieu, Topp, Simon, Aguggia, Marco, Henderson, Robert D., Rademakers, Rosa, Perrone, Patrizia, Stubendorff, Beatrice, Brown, Robert H., Restuadi, Restuadi, Tremolizzo, Lucio, Mundi, Ciro, Berg, Leonard H. van den, Passarella, Bruno, Raggi, Flavia, Delodovici, Maria Luisa, Furlong, Sarah, Bono, Giorgio, Manera, Umberto, Vasta, Rosario, Bombaci, Alessandro, Meineri, Piero, Mauro, Alessandro, Hannon, Eilis, Rini, Augusto, Casale, Federico, Leone, Maurizio, Shaw, Christopher E., Fuda, Giuseppe, Salamone, Paolina, Mathers, Susan, Baird, Denis, Launaro, Nicola, Marchi, Fabiola de, Traynor, Bryan J., Veldink, Jan H., Gellera, Cinzia, Salachas, François, Witte, Otto W., Andersen, Peter M., D’alfonso, Sandra, Bertolotto, Antonio, Gionco, Maurizio, Leotta, Daniela, Singleton, Andrew B., Odddenino, Enrico, Slalom Consortium, Tamma, Filippo, Dotta, Michele, Lauria, Giuseppe, Steinbach, Robert, Imperiale, Daniele, Geda, Claudio, Dolzhenko, Egor, Cavallo, Roberto, Ngo, Shyuan T., Pignatta, Pietro, Groen, Ewout J. N., Cotelli, Maria Sofia, Mattei, Marco de, Calabrese, Gianluigi, Sapio, Alessia di, Giardini, Guido, Hübner, Christian A., Corti, Stefania, Bell, Shaughn, Corcia, Philippe, Comi, Giancarlo, Mccombe, Pamela A., Tiloca, Cinzia, Parals Consortium, Gawor, Klara, Peverelli, Silvia, Taroni, Franco, Pensato, Viviana, Castellotti, Barbara, Graff, Caroline, Olsen, Catherine M., Comi, Giacomo P., Cereda, Cristina, Bo, Roberto del, Boero, Giovanni, Slagen Consortium, Vourc’h, Patrick, Hofman, Albert, Van Eijk, Kristel R., Pasterkamp, R. Jeroen, Tittmann, Lukas, Iacoangeli, Alfredo, Mitne Neto, Miguel, Sproviero, Daisy, Cauchi, Ruben J., Ophoff, Roel A., Wiedau Pazos, Martina, Lomen-Hoerth, Catherine, Deerlin, Vivianna M. van, Nicholson, Garth A., Brylev, Lev, Whiteman, David C., Grosskreutz, Julian, Fan, Dongsheng, Couratier, Philippe, Roediger, Annekathrin, Gaur, Nayana, Uitterlinden, André G., Pamphlett, Roger, Fominykh, Vera, Byrne, Ross P., Lieb, Wolfgang, Iazzolino, Barbara, Dekker, Annelot M., Slap Consortium, Demeshonok, Vera, Millecamps, Stéphanie, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaž, Zidar, Janez, Ravnik-Glavač, Metka, Franke, Andre, Mcrae, Allan F., Rowe, Dominic B., Peotta, Laura, Cooper-Knock, Johnathan, Glavač, Damjan, Doherty, Mark, Rietschel, Marcella, Stević, Zorica, Drory, Vivian, Meininger, Vincent, Zarrelli, Michele, Povedano Panades, Mónica, Gaunt, Tom R., Steyn, Frederik J., Williams, Kelly L., Smith, Bradley N., Cugnasco, Paolo, Papurello, Diego Maria, Nozzoli, Cecilia, Sorarù, Gianni, Mather, Karen A., Ripke, Stephan, Nöthen, Markus M., Sachdev, Perminder S., Henders, Anjali K., Wallace, Leanne, Carvalho, Mamede de, Gromicho, Marta, Pinto, Susana, Marco, Giovanni de, Al Khleifat, Ahmad, Eberle, Michael A., Braun, Alice, Gusmaroli, Graziano

المصدر: Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

مصطلحات موضوعية: Esclerosi lateral amiotròfica, Genètica mèdica, Amyotrophic lateral sclerosis, Medical genetics

وصف الملف: 32 p.; application/pdf

العلاقة: Reproducció del document publicat a: https://doi.org/10.1038/s41588-021-00973-1Test; Nature Genetics, 2021, vol 53, num 12, p. 1636-1648; https://doi.org/10.1038/s41588-021-00973-1Test; http://hdl.handle.net/2445/182764Test

الإتاحة: https://doi.org/10.1038/s41588-021-00973-1Test
http://hdl.handle.net/2445/182764Test