المؤلفون: Van Daele, Sien Hilde, Moisse, Matthieu, van Vugt, Joke J F A, Zwamborn, Ramona A J, van der Spek, Rick, van Rheenen, Wouter, Van Eijk, Kristel, Kenna, Kevin, Corcia, Philippe, Vourc'h, Patrick, Couratier, Philippe, Hardiman, Orla, McLaughin, Russell, Gotkine, Marc, Drory, Vivian, Ticozzi, Nicola, Silani, Vincenzo, Ratti, Antonia, de Carvalho, Mamede, Mora Pardina, Jesús S, Povedano, Monica, Andersen, Peter M., 1962, Weber, Markus, Başak, Nazli A., Shaw, Chris, Shaw, Pamela J., Morrison, Karen E., Landers, John E., Glass, Jonathan D., van Es, Michael A., van den Berg, Leonard H., Al-Chalabi, Ammar, Veldink, Jan, Van Damme, Philip

المصدر: Brain. 146(9):3760-3769

مصطلحات موضوعية: complex genetic disease, motor neuron disease, oligogenic inheritance

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-214248
https://doi.org/10.1093/brain/awad120
https://umu.diva-portal.org/smash/get/diva2:1798190/FULLTEXT01.pdf

المؤلفون: Dilliott, Allison A., Al Nasser, Ahmad, Elnagheeb, Marwa, Fifita, Jennifer, Henden, Lyndal, Keseler, Ingrid M., Lenz, Steven, Marriott, Heather, Mccann, Emily, Mesaros, Maysen, Opie-Martin, Sarah, Owens, Emma, Palus, Brooke, Ross, Justyne, Wang, Zhanjun, White, Hannah, Al-Chalabi, Ammar, Andersen, Peter M., 1962, Benatar, Michael, Blair, Ian, Cooper-Knock, Johnathan, Harrington, Elizabeth A., Heckmann, Jeannine, Landers, John, Moreno, Cristiane, Nel, Melissa, Rampersaud, Evadnie, Roggenbuck, Jennifer, Rouleau, Guy, Traynor, Bryan, Van Blitterswijk, Marka, Van Rheenen, Wouter, Veldink, Jan, Weishaupt, Jochen, Drury, Luke, Harms, Matthew B., Farhan, Sali M. K.

المصدر: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 24(5-6):420-435

مصطلحات موضوعية: Amyotrophic lateral sclerosis, clinical laboratories, gene panels, gene-disease relationships, genetic testing

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-206369
https://doi.org/10.1080/21678421.2023.2173015
https://umu.diva-portal.org/smash/get/diva2:1752870/FULLTEXT02.pdf

المؤلفون: Tazelaar, Gijs H.P., Hop, Paul J., Seelen, Meinie, van Vugt, Joke J.F.A., van Rheenen, Wouter, Kool, Lindy, van Eijk, Kristel R., Gijzen, Marleen, Dooijes, Dennis, Moisse, Matthieu, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Nordin, Angelica, Pardina, Jesus S. Mora, Ravits, John, Al-Chalabi, Ammar, Chio, Adriano, McLaughlin, Russell L., Hardiman, Orla, Van Damme, Philip, de Carvalho, Mamede, Neuwirth, Christoph, Weber, Markus, Andersen, Peter M., 1962, van den Berg, Leonard H., Veldink, Jan H., van Es, Michael A.

المصدر: Neurobiology of Aging. 122:76-87

مصطلحات موضوعية: Amyotrophic Lateral Sclerosis, Genetic modifiers, Post-zygotic mutations, Repeat expansions

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-201947
https://doi.org/10.1016/j.neurobiolaging.2022.11.010
https://umu.diva-portal.org/smash/get/diva2:1722422/FULLTEXT01.pdf

المؤلفون: Restuadi, Restuadi, Steyn, Frederik J, Kabashi, Edor, Ngo, Shyuan T, Cheng, Fei-Fei, Nabais, Marta F, Thompson, Mike J, Qi, Ting, Wu, Yang, Henders, Anjali K, Wallace, Leanne, Bye, Chris R, Turner, Bradley J, Ziser, Laura, Mathers, Susan, McCombe, Pamela A, Needham, Merrilee, Schultz, David, Kiernan, Matthew C, van Rheenen, Wouter, van den Berg, Leonard H, Veldink, Jan H, Ophoff, Roel, Gusev, Alexander, Zaitlen, Noah, McRae, Allan F, Henderson, Robert D, Wray, Naomi R, Giacomotto, Jean, Garton, Fleur C

المصدر: Genome Medicine. 14(1)

مصطلحات موضوعية: Biological Sciences, Genetics, ALS, Neurodegenerative, Human Genome, Neurosciences, Rare Diseases, Brain Disorders, 2.1 Biological and endogenous factors, Neurological, Amyotrophic Lateral Sclerosis, Animals, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Neurodegenerative Diseases, Polymorphism, Single Nucleotide, Zebrafish, Motor neurone disease, MND, Genome-wide association study, Computational biology, Neurodegenerative diseases, Quantitative trait loci, Genes, Regulator, Disease progression, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5ms535m1
https://escholarship.org/content/qt5ms535m1/qt5ms535m1.pdf

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
https://escholarship.org/content/qt07c2z7v3/qt07c2z7v3.pdf

المؤلفون: Saez-Atienzar, Sara, Souza, Cleide dos Santos, Chia, Ruth, Beal, Selina N., Lorenzini, Ileana, Huang, Ruili, Levy, Jennifer, Burciu, Camelia, Ding, Jinhui, Gibbs, J. Raphael, Jones, Ashley, Dewan, Ramita, Pensato, Viviana, Peverelli, Silvia, Corrado, Lucia, van Vugt, Joke J. F. A., van Rheenen, Wouter, Tunca, Ceren, Bayraktar, Elif, Xia, Menghang, Baloh, Robert H., Bowser, Robert, Brady, Christopher B., Brice, Alexis, Broach, James, Camu, William, Chio, Adriano, Cooper-Knock, John, Cusi, Daniele, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Feldman, Eva, Floeter, Mary Kay, Fratta, Pietro, Gerhard, Glenn, Gibson, Summer B., Glass, Jonathan D., Goutman, Stephen A., Hardy, John, Harms, Matthew B., Heiman-Patterson, Terry D., Jansson, Lilja, Kirby, Janine, Laaksovirta, Hannu, Landers, John E., Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, Guissart, Claire, MacGowan, Daniel JL., Maragakis, Nicholas J., Mora, Gabriele, Mouzat, Kevin, Myllykangas, Liisa, Orrell, Richard W., Ostrow, Lyle W., Pickering-Brown, Stuart, Pioro, Erik P., Pulst, Stefan M., Ravits, John M., Renton, Alan E., Robberecht, Wim, Rogaeva, Ekaterina, Rothstein, Jeffrey D., Salvi, Erika, Scholz, Sonja W., Sendtner, Michael, Shaw, Pamela J., Sidle, Katie C., Simmons, Zachary, Stone, David J., Tienari, Pentti J., Traynor, Bryan J., Trojanowski, John Q., Troncoso, Juan C., Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Angelocola, Stefania M., Ausiello, Francesco P., Barberis, Marco, Bartolomei, Ilaria, Battistini, Stefania, Bersano, Enrica, Bisogni, Giulia, Borghero, Giuseppe, Brunetti, Maura, Cabona, Corrado, Calvo, Andrea, Canale, Fabrizio, Canosa, Antonio, Cantisani, Teresa A., Capasso, Margherita, Caponnetto, Claudia, Cardinali, Patrizio, Carrera, Paola, Casale, Federico, Colletti, Tiziana, Conforti, Francesca L., Conte, Amelia, Conti, Elisa, Corbo, Massimo, Cuccu, Stefania, Bella, Eleonora Dalla, D'Errico, Eustachio, DeMarco, Giovanni, Dubbioso, Raffaele, Ferrarese, Carlo, Ferraro, Pilar M., Filippi, Massimo, Fini, Nicola, Floris, Gianluca, Fuda, Giuseppe, Gallone, Salvatore, Gianferrari, Giulia, Giannini, Fabio, Grassano, Maurizio, Greco, Lucia, Iazzolino, Barbara, Introna, Alessandro, La Bella, Vincenzo, Lattante, Serena, Lauria, Giuseppe, Liguori, Rocco, Logroscino, Giancarlo, Logullo, Francesco O., Lunetta, Christian, Mandich, Paola, Mandrioli, Jessica, Manera, Umberto, Manganelli, Fiore, Marangi, Giuseppe, Marinou, Kalliopi, Marrosu, Maria Giovanna, Martinelli, Ilaria, Messina, Sonia, Moglia, Cristina, Monsurrò, Maria Rosaria, Mosca, Lorena, Murru, Maria R., Origone, Paola, Passaniti, Carla, Petrelli, Cristina, Petrucci, Antonio, Pirisi, Angelo, Pozzi, Susanna, Pugliatti, Maura, Quattrini, Angelo, Ricci, Claudia, Riolo, Giulia, Riva, Nilo, Russo, Massimo, Sabatelli, Mario, Salamone, Paolina, Salivetto, Marco, Salvi, Fabrizio, Santarelli, Marialuisa, Sbaiz, Luca, Sideri, Riccardo, Simone, Isabella, Simonini, Cecilia, Spataro, Rossella, Tanel, Raffaella, Tedeschi, Gioacchino, Ticca, Anna, Torriello, Antonella, Tranquilli, Stefania, Tremolizzo, Lucio, Trojsi, Francesca, Vasta, Rosario, Vacchiano, Veria, Vita, Giuseppe, Volanti, Paolo, Zollino, Marcella, Zucchi, Elisabetta, Silani, Vincenzo, Fogh, Isabella, Ticozzi, Nicola, Ratti, Antonia, Tiloca, Cinzia, Gellera, Cinzia, Pinter, Giuseppe Lauria, Taroni, Franco, Castellotti, Barbara, Comi, Giacomo P., Corti, Stefania, Del Bo, Roberto, Cereda, Cristina, Ceroni, Mauro, Gagliardi, Stella, Mazzini, Letizia, Sorarù, Gianni, Raggi, Flavia, Siciliano, Gabriele, Simoncini, Costanza, Lo Gerfo, Annalisa, Filosto, Massimiliano, Inghilleri, Maurizio, Ferlini, Alessandra, Corcia, Philippe, Couratier, Philippe, Vourc'h, Patrick, Hardiman, Orla, McLaughlin, Russell, Gotkine, Marc, Drory, Vivian, van den Veldink, Jan H., Berg, Leonard H., de Carvalho, Mamede, Mora Pardina, Jesus S., Povedano, Monica, Andersen, Peter, Weber, Markus, Başak, Ayşe Nazlı, Al-Chalabi, Ammar, Shaw, Chris, Morrison, Karen E., Iacoangeli, Alfredo, Shatunov, Aleksey, Verde, Federico, Kenna, Kevin, Al Khleifat, Ahmad, Opie-Martin, Sarah, Piccinelli, Stefano Cotti, Padovani, Alessandro, Galimberti, Daniela, Serpente, Maria, Fenoglio, Chiara, Scarpini, Elio, Curtis, Charles J., Lee, Sang Hyuck, Chung, Raymond, Patel, Hamel, Cooper-Knock, Johnathan, Breen, Gerome, Dobson, Richard J. B., Dalgard, Clifton L., Adeleye, Adelani, Alba, Camille, Bacikova, Dagmar, Hupalo, Daniel N., McGrath Martinez, Elisa, Soltis, Anthony R., Sukumar, Gauthaman, Viollet, Coralie, Wilkerson, Matthew D., van den Berg, Leonard H., D'Alfonso, Sandra, Chandran, Siddharthan, Pal, Suvankar, Johnson, Kory, Doucet-O'Hare, Tara, Pasternack, Nicholas, Wang, Tongguang, Nath, Avindra, Veldink, Jan H., Chiò, Adriano, Sattler, Rita, Shaw, Christopher E., Ferraiuolo, Laura

المساهمون: Saez-Atienzar, Sara, Souza, Cleide dos Santo, Chia, Ruth, Beal, Selina N., Lorenzini, Ileana, Huang, Ruili, Levy, Jennifer, Burciu, Camelia, Ding, Jinhui, Gibbs, J. Raphael, Jones, Ashley, Dewan, Ramita, Pensato, Viviana, Peverelli, Silvia, Corrado, Lucia, van Vugt, Joke J. F. A., van Rheenen, Wouter, Tunca, Ceren, Bayraktar, Elif, Xia, Menghang, Baloh, Robert H., Bowser, Robert, Brady, Christopher B., Brice, Alexi, Broach, Jame, Camu, William, Chio, Adriano, Cooper-Knock, John, Cusi, Daniele, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Feldman, Eva, Floeter, Mary Kay, Fratta, Pietro, Gerhard, Glenn, Gibson, Summer B., Glass, Jonathan D., Goutman, Stephen A., Hardy, John, Harms, Matthew B., Heiman-Patterson, Terry D., Jansson, Lilja, Kirby, Janine, Laaksovirta, Hannu, Landers, John E., Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, Guissart, Claire, Macgowan, Daniel JL., Maragakis, Nicholas J., Mora, Gabriele, Mouzat, Kevin, Myllykangas, Liisa, Orrell, Richard W., Ostrow, Lyle W., Pickering-Brown, Stuart, Pioro, Erik P., Pulst, Stefan M., Ravits, John M., Renton, Alan E., Robberecht, Wim, Rogaeva, Ekaterina, Rothstein, Jeffrey D., Salvi, Erika, Scholz, Sonja W., Sendtner, Michael, Shaw, Pamela J., Sidle, Katie C., Simmons, Zachary, Stone, David J., Tienari, Pentti J., Traynor, Bryan J., Trojanowski, John Q., Troncoso, Juan C., Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Angelocola, Stefania M., Ausiello, Francesco P., Barberis, Marco, Bartolomei, Ilaria, Battistini, Stefania, Bersano, Enrica, Bisogni, Giulia, Borghero, Giuseppe, Brunetti, Maura, Cabona, Corrado, Calvo, Andrea, Canale, Fabrizio, Canosa, Antonio, Cantisani, Teresa A., Capasso, Margherita, Caponnetto, Claudia

مصطلحات موضوعية: C9orf72, acamprosate, age at onset, amyotrophic lateral sclerosi, drug repurposing, frontotemporal dementia, translation

Relation: info:eu-repo/semantics/altIdentifier/pmid/39437787; firstpage:1; lastpage:16; journal:CELL GENOMICS; https://hdl.handle.net/11380/1362846

الاتاحة: https://hdl.handle.net/11380/1362846
https://doi.org/10.1016/j.xgen.2024.100679

المؤلفون: Van Wijk, Iris F., Van Eijk, Ruben P.A., Van Boxmeer, Loes, Westeneng, Henk Jan, Van Es, Michael A., Van Rheenen, Wouter, Van Den Berg, Leonard H., Eijkemans, Marinus J.C., Veldink, Jan H.

المساهمون: Datamanagement Team 1, Opleiding Neurologie, Projectafdeling ALS, Brain, Neurologen, Neuromuscular Disorders, Biostatistiek Onderzoek, Neurogenetica, Genetic Risks

مصطلحات موضوعية: c9orf72, penetrance, Neurology, Clinical Neurology

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/454453

الاتاحة: https://dspace.library.uu.nl/handle/1874/454453

المؤلفون: Taş, Gizem, Westerdijk, Timo, Postma, Eric, van Rheenen, Wouter, Bakker, Mark K, van Eijk, Kristel R, Kooyman, Maarten, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Ticozzi, Nicola, Cooper-Knock, Johnathan, Gromicho, Marta, Chandran, Siddharthan, Morrison, Karen E, Shaw, Pamela J, Hardy, John, Sendtner, Michael, Meyer, Thomas, Başak, Nazli, Fogh, Isabella, Chiò, Adriano, Calvo, Andrea, Pupillo, Elisabetta, Logroscino, Giancarlo, Gotkine, Marc, Vourc’h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stèphanie, Salachas, François, Mora Pardina, Jesus S, Rojas-García, Ricardo, Dion, Patrick, Ross, Jay P, Ludolph, Albert C, Weishaupt, Jochen H, Freischmidt, Axel, Bensimon, Gilbert, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Whiteman, David C, Olsen, Catherine M, Uitterlinden, Andre G, Hofman, Albert, Amouyel, Philippe, Traynor, Bryan, Singleton, Adrew B, Neto, Miguel Mitne

المساهمون: Robinson, Peter, Dutch ALS Foundation

المصدر: Bioinformatics ; volume 40, issue 6 ; ISSN 1367-4811

الاتاحة: http://dx.doi.org/10.1093/bioinformatics/btae326
https://academic.oup.com/bioinformatics/advance-article-pdf/doi/10.1093/bioinformatics/btae326/57825840/btae326.pdf
https://academic.oup.com/bioinformatics/article-pdf/40/6/btae326/58343458/btae326.pdf

المؤلفون: Dewan, Ramita, Chia, Ruth, Ding, Jinhui, Hickman, Richard A, Stein, Thor D, Abramzon, Yevgeniya, Ahmed, Sarah, Sabir, Marya S, Portley, Makayla K, Tucci, Arianna, Ibáñez, Kristina, Shankaracharya, FNU, Keagle, Pamela, Rossi, Giacomina, Caroppo, Paola, Tagliavini, Fabrizio, Waldo, Maria L, Johansson, Per M, Nilsson, Christer F, Rowe, James B, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Jabbari, Edwin, Viollet, Coralie, Glass, Jonathan D, Singleton, Andrew B, Silani, Vincenzo, Ross, Owen A, Ryten, Mina, Torkamani, Ali, Tanaka, Toshiko, Ferrucci, Luigi, Resnick, Susan M, Pickering-Brown, Stuart, Brady, Christopher B, Kowal, Neil, Hardy, John A, Van Deerlin, Vivianna, Vonsattel, Jean Paul, Harms, Matt, Morris, Christopher M, Ferrari, Raffaele, Landers, John E, Chiò, Adriano, Gibbs, Jesse Raphael, Dalgard, Clifton L, Scholz, Sonja W, Traynor, Bryan J, Adeleye, Adelani, Alba, Camille, Bacikova, Dagmar, Hupalo, Daniel N, Martinez, Elisa McGrath, Pollard, Harvey B, Sukumar, Gauthaman, Soltis, Anthony R, Tuck, Meila, Zhang, Xijun, Wilkerson, Matthew D, Smith, Bradley N, Ticozzi, Nicola, Fallini, Claudia, Gkazi, Athina Soragia, Topp, Simon D, Kost, Jason, Scotter, Emma L, Kenna, Kevin P, Miller, Jack W, Tiloca, Cinzia, Vance, Caroline, Danielson, Eric W, Troakes, Claire, Colombrita, Claudia, Al-Sarraj, Safa, Lewis, Elizabeth A, King, Andrew, Calini, Daniela, Pensato, Viviana, Castellotti, Barbara, de Belleroche, Jacqueline, Baas, Frank, Asbroek, Anneloor LMA ten, Sapp, Peter C, McKenna-Yasek, Diane, McLaughlin, Russell L, Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesús, Muñoz-Blanco, José Luis, Stevic, Zorica, D’Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P, Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, van Rheenen, Wouter

المصدر: Neuron. 109(3)

مصطلحات موضوعية: Genetics, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Clinical Research, Neurodegenerative, Acquired Cognitive Impairment, Dementia, Frontotemporal Dementia (FTD), Alzheimer's Disease Related Dementias (ADRD), ALS, Rare Diseases, Brain Disorders, Neurosciences, Huntington's Disease, 2.1 Biological and endogenous factors, Aetiology, Neurological, Amyotrophic Lateral Sclerosis, DNA Repeat Expansion, Frontotemporal Dementia, Humans, Huntingtin Protein, Mutation, Whole Genome Sequencing, American Genome Center, FALS Sequencing Consortium, Genomics England Research Consortium, International ALS/FTD Genomics Consortium, International FTD Genetics Consortium, International LBD Genomics Consortium, NYGC ALS Consortium, PROSPECT Consortium, amyotrophic lateral sclerosis, frontotemporal dementia, huntingtin, repeat expansions, whole-genome sequencing, Psychology, Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/01n02333

المؤلفون: Bakker, Mark K, van der Spek, Rick AA, van Rheenen, Wouter, Morel, Sandrine, Bourcier, Romain, Hostettler, Isabel C, Alg, Varinder S, van Eijk, Kristel R, Koido, Masaru, Akiyama, Masato, Terao, Chikashi, Matsuda, Koichi, Walters, Robin G, Lin, Kuang, Li, Liming, Millwood, Iona Y, Chen, Zhengming, Rouleau, Guy A, Zhou, Sirui, Rannikmäe, Kristiina, Sudlow, Cathie LM, Houlden, Henry, van den Berg, Leonard H, Dina, Christian, Naggara, Olivier, Gentric, Jean-Christophe, Shotar, Eimad, Eugène, François, Desal, Hubert, Winsvold, Bendik S, Børte, Sigrid, Johnsen, Marianne Bakke, Brumpton, Ben M, Sandvei, Marie Søfteland, Willer, Cristen J, Hveem, Kristian, Zwart, John-Anker, Verschuren, WM Monique, Friedrich, Christoph M, Hirsch, Sven, Schilling, Sabine, Dauvillier, Jérôme, Martin, Olivier, Jones, Gregory T, Bown, Matthew J, Ko, Nerissa U, Kim, Helen, Coleman, Jonathan RI, Breen, Gerome, Zaroff, Jonathan G, Klijn, Catharina JM, Malik, Rainer, Dichgans, Martin, Sargurupremraj, Muralidharan, Tatlisumak, Turgut, Amouyel, Philippe, Debette, Stéphanie, Rinkel, Gabriel JE, Worrall, Bradford B, Pera, Joanna, Slowik, Agnieszka, Gaál-Paavola, Emília I, Niemelä, Mika, Jääskeläinen, Juha E, von Und Zu Fraunberg, Mikael, Lindgren, Antti, Broderick, Joseph P, Werring, David J, Woo, Daniel, Redon, Richard, Bijlenga, Philippe, Kamatani, Yoichiro, Veldink, Jan H, Ruigrok, Ynte M

المصدر: Nature Genetics. 52(12)

مصطلحات موضوعية: Genetics, Brain Disorders, Human Genome, Clinical Research, Prevention, Stroke, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Cardiovascular, Asian People, Blood Pressure, Case-Control Studies, Endothelial Cells, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Hypertension, Intracranial Aneurysm, Polymorphism, Single Nucleotide, Risk Factors, Smoking, Subarachnoid Hemorrhage, White People, HUNT All-In Stroke, China Kadoorie Biobank Collaborative Group, BioBank Japan Project Consortium, ICAN Study Group, CADISP Group, Genetics and Observational Subarachnoid Haemorrhage (GOSH) Study investigators, International Stroke Genetics Consortium, Biological Sciences, Medical and Health Sciences, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8797n0zr

المؤلفون: Schijven, Dick, Stevelink, Remi, McCormack, Mark, van Rheenen, Wouter, Luykx, Jurjen J, Koeleman, Bobby PC, Veldink, Jan H, Consortium, Project MinE ALS GWAS, Epilepsies, International League Against Epilepsy Consortium on Complex

مصطلحات موضوعية: Biological Psychology, Biomedical and Clinical Sciences, Neurosciences, Psychology, Epilepsy, Biotechnology, Brain Disorders, Genetics, Human Genome, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, Amyotrophic Lateral Sclerosis, Gene Frequency, Genetic Variation, Genome-Wide Association Study, Humans, Negative Results, Risk, Project MinE ALS GWAS Consortium, International League Against Epilepsy Consortium on Complex Epilepsies, ALS, Genetic correlation, Clinical Sciences, Neurology & Neurosurgery, Biological psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5kk4r20c
https://escholarship.org/content/qt5kk4r20c/qt5kk4r20c.pdf

المؤلفون: Moisse, Matthieu, Zwamborn, Ramona A. J., van Vugt, Joke, van Der Spek, Rick, van Rheenen, Wouter, Kenna, Brendan, Van Eijk, Kristel, Kenna, Kevin, Corcia, Philippe, Couratier, Philippe, Vourc'h, Patrick, Hardiman, Orla, McLaughin, Russell, Gotkine, Marc, Drory, Vivian, Ticozzi, Nicola, Silani, Vincenzo, de Carvalho, Mamede, Mora Pardina, Jesús S., Povedano, Monica, Andersen, Peter M., 1962, Weber, Markus, Basak, Nazli A., Chen, Xiao, Eberle, Michael A., Al-Chalabi, Ammar, Shaw, Chris, Shaw, Pamela J., Morrison, Karen E., Landers, John E., Glass, Jonathan D., Robberecht, Wim, van Es, Michael, van den Berg, Leonard, Veldink, Jan, Van Damme, Philip

المصدر: Annals of Neurology. 89(4):686-697

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-179430
https://doi.org/10.1002/ana.26009
https://umu.diva-portal.org/smash/get/diva2:1525569/FULLTEXT02.pdf

المؤلفون: de Boer, Eva M. J., de Vries, Bálint S., Van Hecke, Wim, Mühlebner, Angelika, Vincken, Koen L., Mol, Christian P., van Rheenen, Wouter, Westeneng, Henk-Jan, Veldink, Jan H., Höglinger, Günter U., Morris, Huw R., Litvan, Irene, Raaphorst, Joost, Ticozzi, Nicola, Corcia, Philippe, Vandenberghe, Wim, Pijnenburg, Yolande A. L., Seelaar, Harro, Ingre, Caroline, Van Damme, Philip

المصدر: Journal of Neurology; Jan2025, Vol. 272 Issue 1, p1-12, 12p

المؤلفون: Nicolas, Aude, Kenna, Kevin P, Renton, Alan E, Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A, Kenna, Brendan J, Nalls, Mike A, Keagle, Pamela, Rivera, Alberto M, van Rheenen, Wouter, Murphy, Natalie A, van Vugt, Joke JFA, Geiger, Joshua T, Van der Spek, Rick A, Pliner, Hannah A, Shankaracharya, Smith, Bradley N, Marangi, Giuseppe, Topp, Simon D, Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D, Kenna, Aoife, ITALSGEN Consortium, Mora, Gabriele, Calvo, Andrea, Mazzini, Letizia, Riva, Nilo, Mandrioli, Jessica, Caponnetto, Claudia, Battistini, Stefania, Volanti, Paolo, La Bella, Vincenzo, Conforti, Francesca L, Borghero, Giuseppe, Messina, Sonia, Simone, Isabella L, Trojsi, Francesca, Salvi, Fabrizio, Logullo, Francesco O, D'Alfonso, Sandra, Corrado, Lucia, Capasso, Margherita, Ferrucci, Luigi, Genomic Translation for ALS Care (GTAC) Consortium, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Goldstein, David B, ALS Sequencing Consortium, Gitler, Aaron D, Harris, Tim, Myers, Richard M, NYGC ALS Consortium, Phatnani, Hemali, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C, Answer ALS Foundation, Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia K, LeNail, Alex, Lima, Leandro, Fraenkel, Ernest, Svendsen, Clive N, Thompson, Leslie M, Van Eyk, Jennifer E, Berry, James D, Miller, Timothy M, Kolb, Stephen J, Cudkowicz, Merit, Baxi, Emily, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar, Michael, Taylor, J Paul, Rampersaud, Evadnie, Wu, Gang, Wuu, Joanne, SLAGEN Consortium, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P, Sorarù, Gianni, Cereda, Cristina, French ALS Consortium, Corcia, Philippe, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W

المصدر: Neuron. 97(6)

مصطلحات موضوعية: ITALSGEN Consortium, Genomic Translation for ALS Care (GTAC) Consortium, ALS Sequencing Consortium, NYGC ALS Consortium, Answer ALS Foundation, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, SLAGEN Consortium, French ALS Consortium, Project MinE ALS Sequencing Consortium, Humans, Amyotrophic Lateral Sclerosis, Cohort Studies, Amino Acid Sequence, Adult, Aged, Aged, 80 and over, Middle Aged, Female, Male, Genome-Wide Association Study, Young Adult, Loss of Function Mutation, Kinesins, ALS, GWAS, KIF5A, WES, WGS, axonal transport, cargo, Brain Disorders, Genetics, Human Genome, Rare Diseases, Neurosciences, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Neurological, Psychology, Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1qm5c9x5

المؤلفون: Janse Van Mantgem, Mark R., Van Rheenen, Wouter, Hackeng, Anemone V., Van Es, Michael A., Veldink, Jan H., Van Den Berg, Leonard H., Van Eijk, Ruben P.A.

المساهمون: Opleiding Neurologie, Neurologen, Brain, Neuromuscular Disorders, Genetic Risks, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Datamanagement Team 1

مصطلحات موضوعية: Clinical Neurology

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/449332

الاتاحة: https://dspace.library.uu.nl/handle/1874/449332

المؤلفون: Chen, Zhongbo, Reynolds, Regina H, Pardiñas, Antonio F, Gagliano Taliun, Sarah A, van Rheenen, Wouter, Lin, Kuang, Shatunov, Aleksey, Gustavsson, Emil K, Fogh, Isabella, Jones, Ashley R, Robberecht, Wim, Corcia, Philippe, Chiò, Adriano, Shaw, Pamela J, Morrison, Karen E, Veldink, Jan H, van den Berg, Leonard H, Shaw, Christopher E, Powell, John F, Silani, Vincenzo, Hardy, John A, Houlden, Henry, Owen, Michael J, Turner, Martin R, Ryten, Mina, Al-Chalabi, Ammar

المساهمون: Neurologen, Brain, Neuromuscular Disorders, Genetic Risks, Projectafdeling ALS, Regenerative Medicine and Stem Cells

مصطلحات موضوعية: Alzheimer's disease, Amyotrophic lateral sclerosis, Evolution, Genetics, Natural selection, Neanderthal, Neurodegenerative diseases, Parkinson's disease, Neurology, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/448867

الاتاحة: https://dspace.library.uu.nl/handle/1874/448867

المؤلفون: Al Khleifat, Ahmad, Iacoangeli, Alfredo, van Vugt, Joke J F A, Bowles, Harry, Moisse, Matthieu, Zwamborn, Ramona A J, van der Spek, Rick A A, Shatunov, Aleksey, Cooper-Knock, Johnathan, Topp, Simon, Byrne, Ross, Gellera, Cinzia, López, Victoria, Jones, Ashley R, Opie-Martin, Sarah, Vural, Atay, Campos, Yolanda, Van Rheenen, Wouter, Kenna, Brendan, van Eijk, Kristel R, Kenna, Kevin, Weber, Markus, Smith, Bradley, Fogh, Isabella, Silani, Vincenzo, Morrison, Karen E, Dobson, Richard, van Es, Michael A, McLaughlin, Russell L, Vourc'h, Patrick, Chio, Adriano, Corcia, Philippe, de Carvalho, Mamede, Gotkine, Marc, Panades, Monica P, Mora, Jesus S, Shaw, Pamela J, Landers, John E, Glass, Jonathan D, Shaw, Christopher E, Basak, Nazli, Hardiman, Orla, Robberecht, Wim, Van Damme, Philip, van den Berg, Leonard H, Veldink, Jan H, Al-Chalabi, Ammar

المساهمون: Neurology

المصدر: NPJ genomic medicine ; 7 ; 1 ; 8 ; United Kingdom ; United States ; England

مصطلحات موضوعية: Amyotrophic lateral sclerosis, Comparative genomics

Relation: NPJ Genomic Medicine; https://doi.org/10.1038/s41525-021-00267-9; Al Khleifat A, Iacoangeli A, van Vugt JJFA, Bowles H, Moisse M, Zwamborn RAJ, van der Spek RAA, Shatunov A, Cooper-Knock J, Topp S, Byrne R, Gellera C, López V, Jones AR, Opie-Martin S, Vural A, Campos Y, van Rheenen W, Kenna B, Van Eijk KR, Kenna K, Weber M, Smith B, Fogh I, Silani V, Morrison KE, Dobson R, van Es MA, McLaughlin RL, Vourc'h P, Chio A, Corcia P, de Carvalho M, Gotkine M, Panades MP, Mora JS, Shaw PJ, Landers JE, Glass JD, Shaw CE, Basak N, Hardiman O, Robberecht W, Van Damme P, van den Berg LH, Veldink JH, Al-Chalabi A. Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis. NPJ Genom Med. 2022 Jan 28;7(1):8. doi:10.1038/s41525-021-00267-9. PMID: 35091648; PMCID: PMC8799638.; http://hdl.handle.net/20.500.14038/52263

الاتاحة: https://doi.org/10.1038/s41525-021-00267-9
https://hdl.handle.net/20.500.14038/52263

المؤلفون: Al Khleifat, Ahmad, Iacoangeli, Alfredo, Jones, Ashley R, van Vugt, Joke J F A, Moisse, Matthieu, Shatunov, Aleksey, Zwamborn, Ramona A J, van der Spek, Rick A A, Cooper-Knock, Johnathan, Topp, Simon, Van Rheenen, Wouter, Kenna, Brendan, van Eijk, Kristel R, Kenna, Kevin, Byrne, Ross, López, Victoria, Opie-Martin, Sarah, Vural, Atay, Campos, Yolanda, Weber, Markus, Smith, Bradley, Fogh, Isabella, Silani, Vincenzo, Morrison, Karen E, Dobson, Richard, van Es, Michael A, McLaughlin, Russell L, Vourc'h, Patrick, Chio, Adriano, Corcia, Philippe, de Carvalho, Mamede, Gotkine, Marc, Panades, Monica Povedano, Mora, Jesus S, Shaw, Pamela J, Landers, John E, Glass, Jonathan D, Shaw, Christopher E, Basak, Nazli, Hardiman, Orla, Robberecht, Wim, Van Damme, Philip, van den Berg, Leonard H, Veldink, Jan H, Al-Chalabi, Ammar

المساهمون: Neurology

المصدر: Frontiers in cellular neuroscience ; 16 ; 1050596 ; United Kingdom ; United States ; Switzerland

مصطلحات موضوعية: MND–motor neuron disorders, amyotrophic lateral sclerosis (ALS), bigdata, genomics, telomere–genetics, whole genome sequence (WGS)

Relation: Frontiers in Cellular Neuroscience; https://doi.org/10.3389/fncel.2022.1050596; Al Khleifat A, Iacoangeli A, Jones AR, van Vugt JJFA, Moisse M, Shatunov A, Zwamborn RAJ, van der Spek RAA, Cooper-Knock J, Topp S, van Rheenen W, Kenna B, Van Eijk KR, Kenna K, Byrne R, López V, Opie-Martin S, Vural A, Campos Y, Weber M, Smith B, Fogh I, Silani V, Morrison KE, Dobson R, van Es MA, McLaughlin RL, Vourc'h P, Chio A, Corcia P, de Carvalho M, Gotkine M, Panades MP, Mora JS, Shaw PJ, Landers JE, Glass JD, Shaw CE, Basak N, Hardiman O, Robberecht W, Van Damme P, van den Berg LH, Veldink JH, Al-Chalabi A. Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data. Front Cell Neurosci. 2022 Dec 15;16:1050596. doi:10.3389/fncel.2022.1050596. PMID: 36589292; PMCID: PMC9799999.; http://hdl.handle.net/20.500.14038/52107

الاتاحة: https://doi.org/10.3389/fncel.2022.1050596
https://hdl.handle.net/20.500.14038/52107

المؤلفون: de Klein, Niek, Tsai, Ellen A., Vochteloo, Martijn, Baird, Denis, Huang, Yunfeng, Chen, Chia Yen, van Dam, Sipko, Oelen, Roy, Deelen, Patrick, Bakker, Olivier B., El Garwany, Omar, Ouyang, Zhengyu, Marshall, Eric E., Zavodszky, Maria I., van Rheenen, Wouter, Bakker, Mark K., Veldink, Jan, Gaunt, Tom R., Runz, Heiko, Franke, Lude, Westra, Harm Jan

المصدر: de Klein , N , Tsai , E A , Vochteloo , M , Baird , D , Huang , Y , Chen , C Y , van Dam , S , Oelen , R , Deelen , P , Bakker , O B , El Garwany , O , Ouyang , Z , Marshall , E E , Zavodszky , M I , van Rheenen , W , Bakker , M K , Veldink , J , Gaunt , T R , Runz , H , Franke , L & Westra , H J 2023 , ' Brain ....

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/aff8978c-1045-4edf-ab76-eafb7c31c855
https://research.rug.nl/en/publications/aff8978c-1045-4edf-ab76-eafb7c31c855
https://doi.org/10.1038/s41588-023-01300-6
https://pure.rug.nl/ws/files/646752289/s41588_023_01300_6.pdf

المؤلفون: Willemse, Sean W, Harley, Peter, van Eijk, Ruben PA, Demaegd, Koen C, Zelina, Pavol, Pasterkamp, R Jeroen, van Damme, Philip, Ingre, Caroline, van Rheenen, Wouter, Veldink, Jan H, Kiernan, Matthew C, Al-Chalabi, Ammar, van den Berg, Leonard H, Fratta, Pietro, van Es, Michael A

المصدر: Journal of Neurology, Neurosurgery & Psychiatry (2023) (In press).

مصطلحات موضوعية: ALS, frontotemporal dementia, neurobiology, neurogenetics, neuromuscular

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10164625/1/jnnp-2022-330504.full.pdf; https://discovery.ucl.ac.uk/id/eprint/10164625/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10164625/1/jnnp-2022-330504.full.pdf
https://discovery.ucl.ac.uk/id/eprint/10164625/