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Titel: Amyotrophic lateral sclerosis
Auteur(s): van Es, Michael A, Hardiman, Orla, Chio, Adriano, Al-Chalabi, Ammar, Pasterkamp, R Jeroen, Veldink, Jan H, van den Berg, Leonard H
Tijdschrift: Lancet
Start- en eindpagina: 2084 - 2098
Publicatiedatum: 04-11-2017
DOI: 10.1016/S0140-6736(17)31287-4

Titel: Detection of long repeat expansions from PCR-free whole-genome sequence data
Auteur(s): Dolzhenko, Egor, van Vugt, Joke J.F.A., Shaw, Richard J., Bekritsky, Mitchell A., van Blitterswijk, Marka, Narzisi, Giuseppe, Ajay, Subramanian S., Rajan, Vani, Lajoie, Bryan R., Johnson, Nathan H., Kingsbury, Zoya, Humphray, Sean J., Schellevis, Raymond D., Brands, William J., Baker, Matt, Rademakers, Rosa, Kooyman, Maarten, Tazelaar, Gijs H.P., van Es, Michael A., McLaughlin, Russell, Sproviero, William, Shatunov, Aleksey, Jones, Ashley, Al Khleifat, Ahmad, Pittman, Alan, Morgan, Sarah, Hardiman, Orla, Al-Chalabi, Ammar, Shaw, Chris, Smith, Bradley, Neo, Edmund J., Morrison, Karen, Shaw, Pamela J., Reeves, Catherine, Winterkorn, Lara, Wexler, Nancy S., Housman, David E., Ng, Christopher W., Li, Alina L., Taft, Ryan J., van den Berg, Leonard H., Bentley, David R., Veldink, Jan H., Eberle, Michael A.
Tijdschrift: Genome Research
Start- en eindpagina: 1895 - 1903
Publicatiedatum: 08-09-2017
DOI: 10.1101/gr.225672.117

Titel: Gene discovery in amyotrophic lateral sclerosis: implications for clinical management
Auteur(s): Al-Chalabi, Ammar, van den Berg, Leonard H., Veldink, Jan
Tijdschrift: Neurology
Start- en eindpagina: 96 - 104
Publicatiedatum: 16-12-2016
DOI: 10.1038/nrneurol.2016.182

Titel: Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
Auteur(s): van Rheenen, Wouter, Shatunov, Aleksey, Dekker, Annelot M, McLaughlin, Russell L, Diekstra, Frank P, Pulit, Sara L, van der Spek, Rick A A, Võsa, Urmo, de Jong, Simone, Robinson, Matthew R, Yang, Jian, Fogh, Isabella, van Doormaal, Perry TC, Tazelaar, Gijs H P, 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-Glavac, 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 A M, 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, van der Kooi, Anneke J, de Visser, Marianne, Goris, An, Weber, Markus, Shaw, Christopher E, Smith, Bradley N, Pansarasa, Orietta, Cereda, Cristina, Del Bo, Roberto, Comi, Giacomo P, D'Alfonso, Sandra, Bertolin, Cinzia, Sorarù, Gianni, Mazzini, Letizia, Pensato, Viviana, Gellera, Cinzia, Tiloca, Cinzia, Ratti, Antonia, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Arcuti, Simona, Capozzo, Rosa, Zecca, Chiara, Lunetta, Christian, Penco, Silvana, Riva, Nilo, Padovani, Alessandro, Filosto, Massimiliano, Muller, Bernard, Stuit, Robbert Jan, Blair, Ian, Zhang, Katharine, McCann, Emily P, Fifita, Jennifer A, Nicholson, Garth A, Rowe, Dominic B, Pamphlett, Roger, Kiernan, Matthew C, Grosskreutz, Julian, Witte, Otto W, Ringer, Thomas, Prell, Tino, Stubendorff, Beatrice, Kurth, Ingo, Hübner, Christian A, Leigh, P Nigel, Casale, Federico, Chio, Adriano, Beghi, Ettore, Pupillo, Elisabetta, Tortelli, Rosanna, Logroscino, Giancarlo, Powell, John, Ludolph, Albert C, Weishaupt, Jochen H, Robberecht, Wim, Van Damme, Philip, Franke, Lude, Pers, Tune H, Brown, Robert H, Glass, Jonathan D, Landers, John E, Hardiman, Orla, Andersen, Peter M, Corcia, Philippe, Vourc'h, Patrick, Silani, Vincenzo, Wray, Naomi R, Visscher, Peter M, de Bakker, Paul I W, van Es, Michael A, Pasterkamp, R Jeroen, Lewis, Cathryn M, Breen, Gerome, Al-Chalabi, Ammar, van den Berg, Leonard H, Veldink, Jan H
Tijdschrift: Nature Genetics
Start- en eindpagina: 1043 - 1048
Publicatiedatum: 25-07-2016
DOI: 10.1038/ng.3622

Titel: NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
Auteur(s): Kenna, Kevin P, van Doormaal, Perry T C, Dekker, Annelot M, Ticozzi, Nicola, Kenna, Brendan J, Diekstra, Frank P, van Rheenen, Wouter, van Eijk, Kristel R, Jones, Ashley R, Keagle, Pamela, Shatunov, Aleksey, Sproviero, William, Smith, Bradley N, van Es, Michael A, Topp, Simon D, Kenna, Aoife, Miller, Jack W, Fallini, Claudia, Tiloca, Cinzia, McLaughlin, Russell L, Vance, Caroline, Troakes, Claire, Colombrita, Claudia, Mora, Gabriele, Calvo, Andrea, Verde, Federico, Al-Sarraj, Safa, King, Andrew, Calini, Daniela, de Belleroche, Jacqueline, Baas, Frank, van der Kooi, Anneke J, de Visser, Marianne, ten Asbroek, Anneloor L M A, Sapp, Peter C, McKenna-Yasek, Diane, Polak, Meraida, Asress, Seneshaw, Muñoz-Blanco, José Luis, Strom, Tim M, Meitinger, Thomas, Morrison, Karen E, Lauria, Giuseppe, Williams, Kelly L, Leigh, P Nigel, Nicholson, Garth A, Blair, Ian P, Leblond, Claire S, Dion, Patrick A, Rouleau, Guy A, Pall, Hardev, Shaw, Pamela J, Turner, Martin R, Talbot, Kevin, Taroni, Franco, Boylan, Kevin B, Van Blitterswijk, Marka, Rademakers, Rosa, Esteban-Pérez, Jesús, García-Redondo, Alberto, Van Damme, Phillip, Robberecht, Wim, Chio, Adriano, Gellera, Cinzia, Drepper, Carsten, Sendtner, Michael, Ratti, Antonia, Glass, Jonathan D, Mora, Jesús S, Basak, Nazli A, Hardiman, Orla, Ludolph, Albert C, Andersen, Peter M, Weishaupt, Jochen H, Brown, Robert H, Al-Chalabi, Ammar, Silani, Vincenzo, Shaw, Christopher E, van den Berg, Leonard H, Veldink, Jan H, Landers, John E
Tijdschrift: Nature Genetics
Start- en eindpagina: 1037 - 1042
Publicatiedatum: 25-07-2016
DOI: 10.1038/ng.3626

Titel: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?
Auteur(s): van Rheenen, Wouter, Diekstra, Frank P., van den Berg, Leonard H., Veldink, Jan H.
Tijdschrift: Brain
Start- en eindpagina: 137 - 137
Publicatiedatum: 10-10-2014
DOI: 10.1093/brain/awu299

Titel: Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS
Auteur(s): Smith, Bradley N., Ticozzi, Nicola, Fallini, Claudia, Gkazi, Athina Soragia, Topp, Simon, Kenna, Kevin P., Scotter, Emma L., Kost, Jason, Keagle, Pamela, Miller, Jack W., Calini, Daniela, Vance, Caroline, Danielson, Eric W., Troakes, Claire, Tiloca, Cinzia, Al-Sarraj, Safa, Lewis, Elizabeth A., King, Andrew, Colombrita, Claudia, Pensato, Viviana, Castellotti, Barbara, de Belleroche, Jacqueline, Baas, Frank, ten Asbroek, Anneloor LMA, Sapp, Peter C., McKenna-Yasek, Diane, McLaughlin, Russell L., Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesús, Muñoz-Blanco, José Luis, Simpson, Michael, van Rheenen, Wouter, Diekstra, Frank P., Lauria, Giuseppe, Duga, Stefano, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, Sorarù, Gianni, Morrison, Karen E., Williams, Kelly L., Nicholson, Garth A., Blair, Ian P., Dion, Patrick A., Leblond, Claire S., Rouleau, Guy A., Hardiman, Orla, Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Pall, Hardev, Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Taroni, Franco, García-Redondo, Alberto, Wu, Zheyang, Glass, Jonathan D., Gellera, Cinzia, Ratti, Antonia, Brown, Robert H., Silani, Vincenzo, Shaw, Christopher E., Landers, John E., D’Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P., Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia
Tijdschrift: Neuron
Start- en eindpagina: 324 - 331
Publicatiedatum: 22-10-2014
DOI: 10.1016/j.neuron.2014.09.027

Titel: Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
Auteur(s): Cirulli, E. T., Lasseigne, B. N., Petrovski, S., Sapp, P. C., Dion, P. A., Leblond, C. S., Couthouis, J., Lu, Y.-F., Wang, Q., Krueger, B. J., Ren, Z., Keebler, J., Han, Y., Levy, S. E., Boone, B. E., Wimbish, J. R., Waite, L. L., Jones, A. L., Carulli, J. P., Day-Williams, A. G., Staropoli, J. F., Xin, W. W., Chesi, A., Raphael, A. R., McKenna-Yasek, D., Cady, J., Vianney de Jong, J. M. B., Kenna, K. P., Smith, B. N., Topp, S., Miller, J., Gkazi, A., Al-Chalabi, A., van den Berg, L. H., Veldink, J., Silani, V., Ticozzi, N., Shaw, C. E., Baloh, R. H., Appel, S., Simpson, E., Lagier-Tourenne, C., Pulst, S. M., Gibson, S., Trojanowski, J. Q., Elman, L., McCluskey, L., Grossman, M., Shneider, N. A., Chung, W. K., Ravits, J. M., Glass, J. D., Sims, K. B., Van Deerlin, V. M., Maniatis, T., Hayes, S. D., Ordureau, A., Swarup, S., Landers, J., Baas, F., Allen, A. S., Bedlack, R. S., Harper, J. W., Gitler, A. D., Rouleau, G. A., Brown, R., Harms, M. B., Cooper, G. M., Harris, T., Myers, R. M., Goldstein, D. B.
Tijdschrift: Neuron
Start- en eindpagina: 1436 - 1441
Publicatiedatum: 19-02-2015
DOI: 10.1126/science.aaa3650

Titel: Comment: The environmental and genetic impact of spatial cluster analysis in ALS
Auteur(s): Veldink, J. H.
Tijdschrift: Neurology
Start- en eindpagina: 1543 - 1543
Publicatiedatum: 13-03-2015
DOI: 10.1212/WNL.0000000000001481

Titel: C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits
Auteur(s): Koppers, Max, Blokhuis, Anna M., Westeneng, Henk-Jan, Terpstra, Margo L., Zundel, Caroline A. C., Vieira de Sá, Renata, Schellevis, Raymond D., Waite, Adrian J., Blake, Derek J., Veldink, Jan H., van den Berg, Leonard H., Pasterkamp, R. Jeroen
Tijdschrift: Annals of Neurology
Start- en eindpagina: 426 - 438
Publicatiedatum: 03-07-2015
DOI: 10.1002/ana.24453

Titel: Brain morphologic changes in asymptomaticC9orf72repeat expansion carriers
Auteur(s): Walhout, Renée, Schmidt, Ruben, Westeneng, Henk-Jan, Verstraete, Esther, Seelen, Meinie, van Rheenen, Wouter, de Reus, Marcel A., van Es, Michael A., Hendrikse, Jeroen, Veldink, Jan H., van den Heuvel, Martijn P., van den Berg, Leonard H.
Tijdschrift: Neurology
Start- en eindpagina: 1780 - 1788
Publicatiedatum: 23-10-2015
DOI: 10.1212/WNL.0000000000002135

Titel: Genomic signals of migration and continuity in Britain before the Anglo-Saxons
Auteur(s): Martiniano, Rui, Caffell, Anwen, Holst, Malin, Hunter-Mann, Kurt, Montgomery, Janet, Müldner, Gundula, McLaughlin, Russell L., Teasdale, Matthew D., van Rheenen, Wouter, Veldink, Jan H., van den Berg, Leonard H., Hardiman, Orla, Carroll, Maureen, Roskams, Steve, Oxley, John, Morgan, Colleen, Thomas, Mark G., Barnes, Ian, McDonnell, Christine, Collins, Matthew J., Bradley, Daniel G.
Tijdschrift: Nature Communications
Start- en eindpagina: 10326 - 10326
Publicatiedatum: 19-01-2016
DOI: 10.1038/ncomms10326

Titel: Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers
Auteur(s): Dekker, Annelot M., Seelen, Meinie, van Doormaal, Perry T.C., van Rheenen, Wouter, Bothof, Reinoud J.P., van Riessen, Tim, Brands, William J., van der Kooi, Anneke J., de Visser, Marianne, Voermans, Nicol C., Pasterkamp, R. Jeroen, Veldink, Jan H., van den Berg, Leonard H., van Es, Michael A.
Tijdschrift: Neurobiology of Aging
Start- en eindpagina: 9 - 15
Publicatiedatum: 01-03-2016
DOI: 10.1016/j.neurobiolaging.2015.12.012

Titel: Serotonin 2B receptor slows disease progression and prevents degeneration of spinal cord mononuclear phagocytes in amyotrophic lateral sclerosis
Auteur(s): El Oussini, Hajer, Bayer, Hanna, Scekic-Zahirovic, Jelena, Vercruysse, Pauline, Sinniger, Jérôme, Dirrig-Grosch, Sylvie, Dieterlé, Stéphane, Echaniz-Laguna, Andoni, Larmet, Yves, Müller, Kathrin, Weishaupt, Jochen H., Thal, Dietmar R., van Rheenen, Wouter, van Eijk, Kristel, Lawson, Roland, Monassier, Laurent, Maroteaux, Luc, Roumier, Anne, Wong, Philip C., van den Berg, Leonard H., Ludolph, Albert C., Veldink, Jan H., Witting, Anke, Dupuis, Luc
Tijdschrift: Acta Neuropathologica
Start- en eindpagina: 465 - 480
Publicatiedatum: 01-03-2016
DOI: 10.1007/s00401-016-1534-4

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