ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization
Tazelaar, Gijs H P, Boeynaems, Steven, De Decker, Mathias, van Vugt, Joke J F A, Kool, Lindy, Goedee, H Stephan, McLaughlin, Russell L, Sproviero, William, Iacoangeli, Alfredo, Moisse, Matthieu, Jacquemyn, Maarten, Daelemans, Dirk, Dekker, Annelot M, van der Spek, Rick A, Westeneng, Henk-Jan, Kenna, Kevin P, Assialioui, Abdelilah, Da Silva, Nica, Povedano, Mónica, Pardina, Jesus S Mora, Hardiman, Orla, Salachas, François, Millecamps, Stéphanie, Vourc’h, Patrick, Corcia, Philippe, Couratier, Philippe, Morrison, Karen E, Shaw, Pamela J, Shaw, Christopher E, Pasterkamp, R Jeroen, Landers, John E, Van Den Bosch, Ludo, Robberecht, Wim, Al-Chalabi, Ammar, van den Berg, Leonard H, Van Damme, Philip, Veldink, Jan H, van Es, Michael A
Published in Brain communications (01.01.2020)
Published in Brain communications (01.01.2020)
Get full text
Journal Article
Genetic variability in sporadic amyotrophic lateral sclerosis
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, 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
Published in Brain (London, England : 1878) (01.09.2023)
Published in Brain (London, England : 1878) (01.09.2023)
Get full text
Journal Article
Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis
Dekker, Annelot M., Diekstra, Frank P., Pulit, Sara L., Tazelaar, Gijs H. P., van der Spek, Rick A., van Rheenen, Wouter, van Eijk, Kristel R., Calvo, Andrea, Brunetti, Maura, Damme, Philip Van, Robberecht, Wim, Hardiman, Orla, McLaughlin, Russell, Chiò, Adriano, Sendtner, Michael, Ludolph, Albert C., Weishaupt, Jochen H., Pardina, Jesus S. Mora, van den Berg, Leonard H., Veldink, Jan H.
Published in Scientific reports (11.04.2019)
Published in Scientific reports (11.04.2019)
Get full text
Journal Article
Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis
Zhang, Sai, Cooper-Knock, Johnathan, Weimer, Annika K., Shi, Minyi, Moll, Tobias, Marshall, Jack N.G., Harvey, Calum, Nezhad, Helia Ghahremani, Franklin, John, Souza, Cleide dos Santos, Ning, Ke, Wang, Cheng, Li, Jingjing, Dilliott, Allison A., Farhan, Sali, Elhaik, Eran, Pasniceanu, Iris, Livesey, Matthew R., Eitan, Chen, Hornstein, Eran, Kenna, Kevin P., Blair, Ian, Wray, Naomi R., Kiernan, Matthew, Mitne Neto, Miguel, Chio, Adriano, Cauchi, Ruben, Robberecht, Wim, van Damme, Philip, Corcia, Philippe, Couratier, Philippe, Hardiman, Orla, McLaughin, Russell, Gotkine, Marc, Drory, Vivian, Ticozzi, Nicola, Silani, Vincenzo, Veldink, Jan H., van den Berg, Leonard H., de Carvalho, Mamede, Mora Pardina, Jesus S., Povedano, Monica, Andersen, Peter, Weber, Markus, Başak, Nazli A., Al-Chalabi, Ammar, Shaw, Chris, Shaw, Pamela J., Morrison, Karen E., Landers, John E., Glass, Jonathan D., Veldink, Jan H., Ferraiuolo, Laura, Shaw, Pamela J., Snyder, Michael P.
Published in Neuron (Cambridge, Mass.) (16.03.2022)
Published in Neuron (Cambridge, Mass.) (16.03.2022)
Get full text
Journal Article
Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis
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, van den Berg, Leonard H., Veldink, Jan H., van Es, Michael A.
Published in Neurobiology of aging (01.02.2023)
Published in Neurobiology of aging (01.02.2023)
Get full text
Journal Article
Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort
Tazelaar, Gijs H.P., Dekker, Annelot M., van Vugt, Joke J.F.A., van der Spek, Rick A., Westeneng, Henk-Jan, Kool, Lindy J.B.G., Kenna, Kevin P., van Rheenen, Wouter, Pulit, Sara L., McLaughlin, Russell L., Sproviero, William, Iacoangeli, Alfredo, Hübers, Annemarie, Brenner, David, Morrison, Karen E., Shaw, Pamela J., Shaw, Christopher E., Panadés, Monica Povedano, Mora Pardina, Jesus S., Glass, Jonathan D., Hardiman, Orla, Al-Chalabi, Ammar, van Damme, Philip, Robberecht, Wim, Landers, John E., Ludolph, Albert C., Weishaupt, Jochen H., van den Berg, Leonard H., Veldink, Jan H., van Es, Michael A.
Published in Neurobiology of aging (01.02.2019)
Published in Neurobiology of aging (01.02.2019)
Get full text
Journal Article
The Effect of SMN Gene Dosage on ALS Risk and Disease Severity
Moisse, Matthieu, Zwamborn, Ramona A. J., Vugt, Joke, Spek, Rick, 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, Carvalho, Mamede, Mora Pardina, Jesús S., Povedano, Monica, Andersen, Peter M., Weber, Markus, Başak, 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, Es, Michael, Berg, Leonard, Veldink, Jan, Van Damme, Philip
Published in Annals of neurology (01.04.2021)
Published in Annals of neurology (01.04.2021)
Get full text
Journal Article
COURAGE-ALS: a randomized, double-blind phase 3 study designed to improve participant experience and increase the probability of success
Shefner, Jeremy M., Al-Chalabi, Ammar, Andrews, Jinsy A., Chio, Adriano, De Carvalho, Mamede, Cockroft, Bettina M., Corcia, Philippe, Couratier, Philippe, Cudkowicz, Merit E., Genge, Angela, Hardiman, Orla, Heiman-Patterson, Terry, Henderson, Robert D., Ingre, Caroline, Jackson, Carlayne E., Johnston, Wendy, Lechtzin, Noah, Ludolph, Albert, Maragakis, Nicholas J., Miller, Timothy M., Mora Pardina, Jesus S., Petri, Susanne, Simmons, Zachary, Van Den Berg, Leonard H., Zinman, Lorne, Kupfer, Stuart, Malik, Fady I., Meng, Lisa, Simkins, Tyrell J., Wei, Jenny, Wolff, Andrew A., Rudnicki, Stacy A.
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (03.07.2023)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (03.07.2023)
Get full text
Journal Article
Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival
Adey, Brett N, Cooper-Knock, Johnathan, Al Khleifat, Ahmad, Fogh, Isabella, van Damme, Philip, Corcia, Philippe, Couratier, Philippe, Hardiman, Orla, McLaughlin, Russell, Gotkine, Marc, Drory, Vivian, Silani, Vincenzo, Ticozzi, Nicola, Veldink, Jan H, van den Berg, Leonard H, de Carvalho, Mamede, Pinto, Susana, Mora Pardina, Jesus S, Povedano Panades, Mónica, Andersen, Peter M, Weber, Markus, Başak, Nazli A, Shaw, Christopher E, Shaw, Pamela J, Morrison, Karen E, Landers, John E, Glass, Jonathan D, Vourc'h, Patrick, Dobson, Richard J B, Breen, Gerome, Al-Chalabi, Ammar, Jones, Ashley R, Iacoangeli, Alfredo
Published in Frontiers in cellular neuroscience (02.03.2023)
Published in Frontiers in cellular neuroscience (02.03.2023)
Get full text
Journal Article
Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS
Marriott, Heather, Spargo, Thomas P., Al Khleifat, Ahmad, Andersen, Peter M, Başak, Nazli A., Cooper‐Knock, Johnathan, Corcia, Philippe, Couratier, Philippe, Carvalho, Mamede, Drory, Vivian, Gotkine, Marc, Landers, John E., McLaughlin, Russell, Pardina, Jesús S. Mora, Morrison, Karen E., Pinto, Susana, Shaw, Christopher E., Shaw, Pamela J., Silani, Vincenzo, Ticozzi, Nicola, Damme, Philip, Berg, Leonard H., Vourc'h, Patrick, Weber, Markus, Veldink, Jan H., Al Khleifat, Ahmad, Al‐Chalabi, Ammar, Andersen, Peter M, Başak, Nazli A., Cooper‐Knock, Johnathan, Corcia, Philippe, Couratier, Philippe, Carvalho, Mamede, Drory, Vivian, Glass, Jonathan D., Gotkine, Marc, Hardiman, Orla, Iacoangeli, Alfredo, Landers, John E., McLaughlin, Russell, Pardina, Jesús S. Mora, Morrison, Karen E., Pinto, Susana, Povedano, Monica, Shaw, Christopher E., Shaw, Pamela J., Silani, Vincenzo, Ticozzi, Nicola, Damme, Philip, Berg, Leonard H., Vourc'h, Patrick, Weber, Markus, Veldink, Jan H., Dobson, Richard J., Schwab, Patrick, Al‐Chalabi, Ammar, Iacoangeli, Alfredo
Published in Annals of clinical and translational neurology (01.07.2024)
Published in Annals of clinical and translational neurology (01.07.2024)
Get full text
Journal Article
The impact of age on genetic testing decisions in amyotrophic lateral sclerosis
Mehta, Puja R, Iacoangeli, Alfredo, Opie-Martin, Sarah, van Vugt, Joke J F A, Al Khleifat, Ahmad, Bredin, Andrea, Ossher, Lynn, Andersen, Peter M, Hardiman, Orla, Mehta, Arpan R, Fratta, Pietro, Talbot, Kevin, Al-Chalabi, Ammar
Published in Brain (London, England : 1878) (19.12.2022)
Published in Brain (London, England : 1878) (19.12.2022)
Get full text
Journal Article
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS
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, van Eijk, Kristel R, Moisse, Matthieu, Baird, Denis, Al Khleifat, Ahmad, Iacoangeli, Alfredo, 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, de 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, Wray, Naomi R, McLaughlin, Russell L, Hardiman, Orla, Kenna, Kevin P, Tsai, Ellen, Runz, Heiko, Al-Chalabi, Ammar, van den Berg, Leonard H, Van Damme, Philip, Mill, Jonathan, Veldink, Jan H
Published in Science translational medicine (23.02.2022)
Published in Science translational medicine (23.02.2022)
Get more information
Journal Article
Computing linkage disequilibrium aware genome embeddings using autoencoders
Taş, Gizem, Westerdijk, Timo, Postma, Eric, Veldink, Jan H, Schönhuth, Alexander, Balvert, Marleen
Published in Bioinformatics (Oxford, England) (03.06.2024)
Published in Bioinformatics (Oxford, England) (03.06.2024)
Get full text
Journal Article
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (vol 53, pg 1636, 2021)
van, Rheenen W, van, der Spek RAA, Bakker, MK, van, Vugt JJFA, Hop, PJ, Zwamborn, RAJ, de, Klein N, Westra, H-J, Bakker, OB, Deelen, P
Published in NATURE GENETICS (01.03.2022)
Published in NATURE GENETICS (01.03.2022)
Get full text
Publication
Spanish adaptation of the revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R)
Campos, Teresa Salas, Rodríguez-Santos, Francisco, Esteban, Jesus, Vázquez, Pilar Cordero, Mora Pardina, Jesus S., Carmona, Alejandra Cano
Published in Amyotrophic lateral sclerosis (01.10.2010)
Published in Amyotrophic lateral sclerosis (01.10.2010)
Get full text
Journal Article