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by Majounie, Elisa, PhD and Renton, Alan E, PhD and Mok, Kin, MSc and Dopper, Elise GP and Waite, Adrian, PhD and Rollinson, Sara, PhD and Chiò, Adriano, MD and Restagno, Gabriella, MD and Nicolaou, Nayia, MSc and Simon-Sanchez, Javier, PhD and van Swieten, John C, Prof and Abramzon, Yevgeniya and Johnson, Janel O, PhD and Sendtner, Michael, Prof and Pamphlett, Roger, MD and Orrell, Richard W, MD and Mead, Simon, MD and Sidle, Katie C, MD and Houlden, Henry, Prof and Rohrer, Jonathan D, MD and Morrison, Karen E, Prof and Pall, Hardev, MD and Talbot, Kevin, Prof and Ansorge, Olaf, MD and Hernandez, Dena G, MSc and Arepalli, Sampath, MS and Sabatelli, Mario, MD and Mora, Gabriele, MD and Corbo, Massimo, MD and Giannini, Fabio, MD and Calvo, Andrea, MD and Englund, Elisabet, MD and Borghero, Giuseppe, MD and Floris, Gian Luca, MD and Remes, Anne M, Prof and Laaksovirta, Hannu, MD and McCluskey, Leo, MD and Trojanowski, John Q, Prof and Van Deerlin, Vivianna M, MD and Schellenberg, Gerard D, Prof and Nalls, Michael A, PhD and Drory, Vivian E, MD and Lu, Chin-Song, Prof and Yeh, Tu-Hsueh, MD and Ishiura, Hiroyuki, MD and Takahashi, Yuji, MD and Tsuji, Shoji, Prof and Le Ber, Isabelle, MD and Brice, Alexis, Prof and Drepper, Carsten, PhD and Williams, Nigel, PhD and Kirby, Janine, PhD and Shaw, Pamela, Prof and Hardy, John, Prof and Tienari, Pentti J, MD and Heutink, Peter, Prof and Morris, Huw R, MD and Pickering-Brown, Stuart, Prof and Traynor, Bryan J, Dr and Chromosome 9-ALS FTD Consortium and French Res Network FTLD FTLD ALS and ITALSGEN Consortium and French research network on FTLD/FTLD/ALS and Chromosome 9-ALS/FTD Consortium and Oncology and Pathology, Kamprad Lab and Lund University and Lunds universitet and Onkologi och Patologi, Kampradlab
Lancet Neurology, The, ISSN 1474-4422, 2012, Volume 11, Issue 4, pp. 323 - 330
Summary Background We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large... 
Neurology | PREVALENCE | MUTATIONS | LOBAR DEGENERATION | GENETICS | TDP-43 | CLINICAL NEUROLOGY | Frontotemporal Dementia - genetics | Cross-Sectional Studies | DNA Repeat Expansion - genetics | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Child, Preschool | Genotype | Male | Genetic Loci | Open Reading Frames - genetics | Young Adult | Chromosomes, Human, Pair 9 - genetics | Adolescent | Age of Onset | Aged, 80 and over | Adult | Female | Aged | Child | Cohort Studies | Medical research | Medical colleges | Care and treatment | Nervous system diseases | Neurosciences | Molecular genetics | Oncology, Experimental | Questions and answers | Amyotrophic lateral sclerosis | Research | Medicine, Experimental | Agriculture | Physicians (General practice) | Alzheimer's disease | Dementia | Cancer | Biomedical engineering | Index Medicus | Haplotypes | Polymerase chain reaction | Neurodegenerative diseases | Ethnic groups | Data processing | Mutation | Frontotemporal dementia | Genetic counselling | Islands | Age | Toll-Like Receptor 4 | Open Reading Frames | Adaptor Proteins, Vesicular Transport | Lipopolysaccharides | Life Sciences | DNA Repeat Expansion | Interferon Regulatory Factor-3 | Transfection | Amyotrophic Lateral Sclerosis | RNA Interference | HEK293 Cells | Membrane Glycoproteins | Vesicular Transport Proteins | Protein Structure, Tertiary | Cell Line | Chemokine CCL5 | Frontotemporal Dementia | Signal Transduction | Myeloid Differentiation Factor 88 | Chromosomes, Human, Pair 9 | Protein Transport | Adaptor Proteins, Signal Transducing | Santé publique et épidémiologie | RNA, Small Interfering | Endosomes | Neurologi | Clinical Medicine | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap
Journal Article
Nature Cell Biology, ISSN 1465-7392, 06/2009, Volume 11, Issue 6, pp. 705 - 16
Journal Article
by van Rheenen, Wouter and Shatunov, Aleksey and Dekker, Annelot M and McLaughlin, Russell L and Diekstra, Frank P and Pulit, Sara L and van der Spek, Rick A. A and Võsa, Urmo and de Jong, Simone and Robinson, Matthew R and Yang, Jian and Fogh, Isabella and van Doormaal, Perry Tc and Tazelaar, Gijs H. P and Koppers, Max and Blokhuis, Anna M and Sproviero, William and Jones, Ashley R and Kenna, Kevin P and van Eijk, Kristel R and Harschnitz, Oliver and Schellevis, Raymond D and Brands, William J and Medic, Jelena and Menelaou, Anoniki and Vajda, Alice and Ticozzi, Nicola and Lin, Kuang and Rogelj, Boris and Vrabec, Katarina and Ravnik-Glavač, Metka and Koritnik, Blaž and Zidar, Janez and Leonardis, Lea and Grošelj, Leja Dolenc and Millecamps, Stéphanie and Salachas, François and Meininger, Vincent and de Carvalho, Mamede and Pinto, Susana and Mora, Jesus S and Rojas-García, Ricardo and Polak, Meraida and Chanan, Siddharthan and Colville, Shuna and Swingler, Robert and Morrison, Karen E and Shaw, Pamela J and Hardy, John and Orrell, Richard W and Pittman, Alan and Sidle, Katie and Fratta, Pietro and Malaspina, Anea and Topp, Simon and Petri, Susanne and Abdulla, Susanne and pper, Carsten and Sendtner, Michael and Meyer, Thomas and Ophoff, Roel A and Staats, Kim A and Wiedau-Pazos, Martina and Lomen-Hoerth, Catherine and van Deerlin, Vivianna M and Trojanowski, John Q and Elman, Lauren and McCluskey, Leo and Basak, A. Nazli and Tunca, Ceren and Hamzeiy, Hamid and Parman, Yesim and Meitinger, Thomas and Lichtner, Peter and Radivojkov-Blagojevic, Milena and Anes, Christian R and Maurel, Cindy and Bensimon, Gilbert and Landwehrmeyer, Bernhard and Brice, Alexis and Payan, Christine A. M and Saker-Delye, Safaa and Dürr, Alexana and Wood, Nicholas W and Tittmann, Lukas and Lieb, Wolfgang and Franke, Ane and Rietschel, Marcella and Cichon, Sven and Nöthen, Markus M and Amouyel, Philippe and Tzourio, Christophe and Dartigues, Jean-François and Uitterlinden, Ane G and Rivadeneira, Fernando and Estrada, Karol and Hofman, Albert and Curtis, Charles and Blauw, Hylke M and van der Kooi, Anneke J and ... and PARALS Registry and FALS Sequencing Consortium and SLALOM Grp and SLAGEN Consortium and NNIPPS Study Grp and SLAP Registry and SLALOM Group and NNIPPS Study Group and Medicinska fakulteten and Institutionen för farmakologi och klinisk neurovetenskap and Klinisk neurovetenskap and Umeå universitet
Nature genetics, ISSN 1061-4036, 2016, Volume 48, Issue 9, pp. 1043 - 1048
Journal Article
by Kenna, Kevin P and van Doormaal, Perry T. C and Dekker, Annelot M and Ticozzi, Nicola and Kenna, Brendan J and Diekstra, Frank P and van Rheenen, Wouter and van Eijk, Kristel R and Jones, Ashley R and Keagle, Pamela and Shatunov, Aleksey and Sproviero, William and Smith, Bradley N and van Es, Michael A and Topp, Simon D and Kenna, Aoife and Miller, Jack W and Fallini, Claudia and Tiloca, Cinzia and McLaughlin, Russell L and Vance, Caroline and Troakes, Claire and Colombrita, Claudia and Mora, Gabriele and Calvo, Anea and Verde, Federico and Al-Sarraj, Safa and King, Anew and Calini, Daniela and de Belleroche, Jacqueline and Baas, Frank and van der Kooi, Anneke J and de Visser, Marianne and ten Asbroek, Anneloor L. M. A and Sapp, Peter C and McKenna-Yasek, Diane and Polak, Meraida and Asress, Seneshaw and Muñoz-Blanco, José Luis and Strom, Tim M and Meitinger, Thomas and Morrison, Karen E and Lauria, Giuseppe and Williams, Kelly L and Leigh, P. Nigel and Nicholson, Garth A and Blair, Ian P and Leblond, Claire S and Dion, Patrick A and Rouleau, Guy A and Pall, Hardev and Shaw, Pamela J and Turner, Martin R and Talbot, Kevin and Taroni, Franco and Boylan, Kevin B and van Blitterswijk, Marka and Rademakers, Rosa and Esteban-Pérez, Jesús and García-Redondo, Alberto and van Damme, Phillip and Robberecht, Wim and Chio, Aiano and Gellera, Cinzia and pper, Carsten and Sendtner, Michael and Ratti, Antonia and Glass, Jonathan D and Mora, Jesús S and Basak, Nazli A and Hardiman, Orla and Ludolph, Albert C and Andersen, Peter M and Weishaupt, Jochen H and Brown, Robert H and Al-Chalabi, Ammar and Silani, Vincenzo and Shaw, Christopher E and van den Berg, Leonard H and Veldink, Jan H and Landers, John E and D'alfonso, Sana and Mazzini, Letizia and Comi, Giacomo P and del Bo, Roberto and Ceroni, Mauro and Gagliardi, Stella and Querin, Giorgia and Bertolin, Cinzia and Pensato, Viviana and Castellotti, Barbara and Corti, Stefania and Cereda, Cristina and Corrado, Lucia and Sorarù, Gianni and SLAGEN Consortium and Medicinska fakulteten and Institutionen för farmakologi och klinisk neurovetenskap and Klinisk neurovetenskap and Umeå universitet
Nature genetics, ISSN 1061-4036, 2016, Volume 48, Issue 9, pp. 1037 - 1042
Journal Article
by Renton, Alan E and Majounie, Elisa and Waite, Adrian and Simón-Sánchez, Javier and Rollinson, Sara and Gibbs, J. Raphael and Schymick, Jennifer C and Laaksovirta, Hannu and van Swieten, John C and Myllykangas, Liisa and Kalimo, Hannu and Paetau, Anders and Abramzon, Yevgeniya and Remes, Anne M and Kaganovich, Alice and Scholz, Sonja W and Duckworth, Jamie and Ding, Jinhui and Harmer, Daniel W and Hernandez, Dena G and Johnson, Janel O and Mok, Kin and Ryten, Mina and Trabzuni, Danyah and Guerreiro, Rita J and Orrell, Richard W and Neal, James and Murray, Alex and Pearson, Justin and Jansen, Iris E and Sondervan, David and Seelaar, Harro and Blake, Derek and Young, Kate and Halliwell, Nicola and Callister, Janis Bennion and Toulson, Greg and Richardson, Anna and Gerhard, Alex and Snowden, Julie and Mann, David and Neary, David and Nalls, Michael A and Peuralinna, Terhi and Jansson, Lilja and Isoviita, Veli-Matti and Kaivorinne, Anna-Lotta and Hölttä-Vuori, Maarit and Ikonen, Elina and Sulkava, Raimo and Benatar, Michael and Wuu, Joanne and Chiò, Adriano and Restagno, Gabriella and Borghero, Giuseppe and Sabatelli, Mario and Heckerman, David and Rogaeva, Ekaterina and Zinman, Lorne and Rothstein, Jeffrey D and Sendtner, Michael and Drepper, Carsten and Eichler, Evan E and Alkan, Can and Abdullaev, Ziedulla and Pack, Svetlana D and Dutra, Amalia and Pak, Evgenia and Hardy, John and Singleton, Andrew and Williams, Nigel M and Heutink, Peter and Pickering-Brown, Stuart and Morris, Huw R and Tienari, Pentti J and Traynor, Bryan J and ITALSGEN Consortium
Neuron, ISSN 0896-6273, 10/2011, Volume 72, Issue 2, pp. 257 - 268
Journal Article
by McLaughlin, Russell L and Schijven, Dick and van Rheenen, Wouter and van Eijk, Kristel R and O'Brien, Margaret and Kahn, René S and Ophoff, Roel A and Goris, An and Bradley, Daniel G and Al-Chalabi, Ammar and van den Berg, Leonard H and Luykx, Jurjen J and Hardiman, Orla and Veldink, Jan H and Shatunov, Aleksey and Dekker, Annelot M and Diekstra, Frank P and Pulit, Sara L and van der Spek, Rick A. A and van Doormaal, Perry T. C and Sproviero, William and Jones, Ashley R and Nicholson, Garth A and Rowe, Dominic B and Pamphlett, Roger and Kiernan, Matthew C and Bauer, Denis and Kahlke, Tim and Williams, Kelly and Eftimov, Filip and Fogh, Isabella and Ticozzi, Nicola and Lin, Kuang and Millecamps, Stéphanie and Salachas, François and Meininger, Vincent and de Carvalho, Mamede and Pinto, Susana and Mora, Jesus S and Rojas-García, Ricardo and Polak, Meraida and Chanan, Siddharthan and Colville, Shuna and Swingler, Robert and Morrison, Karen E and Shaw, Pamela J and Hardy, John and Orrell, Richard W and Pittman, Alan and Sidle, Katie and Fratta, Pietro and Malaspina, Anea and Petri, Susanne and Abdulla, Susanna and pper, Carsten and Sendtner, Michael and Meyer, Thomas and Wiedau-Pazos, Martina and Lomen-Hoerth, Catherine and van Deerlin, Vivianna M and Trojanowski, John Q and Elman, Lauren and McCluskey, Leo and Basak, Nazli and Meitinger, Thomas and Lichtner, Peter and Blagojevic-Radivojkov, Milena and Anes, Christian R and Maurel, Cindy and Bensimon, Gilbert and Landwehrmeyer, Bernhard and Brice, Alexis and Payan, Christine A. M and Saker-Delye, Safa and Dürr, Alexana and Wood, Nicholas and Tittmann, Lukas and Lieb, Wolfgang and Franke, Ane and Rietschel, Marcella and Cichon, Sven and Nöuthen, Markus M and Amouyel, Philippe and Tzourio, Christophe and Dartigues, Jean-François and Uitterlinden, Ane G and Rivadeneira, Fernando and Estrada, Karol and Hofman, Albert and Curtis, Charles and van der Kooi, Anneke J and de Visser, Marianne and Weber, Markus and Shaw, Christopher E and Smith, Bradley N and Pansarasa, Orietta and Cereda, Cristina and del Bo, Roberto and Comi, Giacomo P and D'alfonso, Sana and ... and Project MinE GWAS Consortium and Schizophrenia Working Grp Psychiat and Schizophrenia Working Group of the Psychiatric Genomics Consortium
Nature communications, ISSN 2041-1723, 2017, Volume 8, Issue 1, pp. 14774 - 14774
Journal Article
by Kenna, Kevin P and van Doormaal, Perry T C and Dekker, Annelot M and Ticozzi, Nicola and Kenna, Brendan J and Diekstra, Frank P and van Rheenen, Wouter and van Eijk, Kristel R and Jones, Ashley R and Keagle, Pamela and Shatunov, Aleksey and Sproviero, William and Smith, Bradley N and van Es, Michael A and Topp, Simon D and Kenna, Aoife and Miller, Jack W and Fallini, Claudia and Tiloca, Cinzia and McLaughlin, Russell L and Vance, Caroline and Troakes, Claire and Colombrita, Claudia and Mora, Gabriele and Calvo, Anea and Verde, Federico and Al-Sarraj, Safa and King, Anew and Calini, Daniela and de Belleroche, Jacqueline and Baas, Frank and van der Kooi, Anneke J and de Visser, Marianne and Ten Asbroek, Anneloor L M A and Sapp, Peter C and McKenna-Yasek, Diane and Polak, Meraida and Asress, Seneshaw and Muñoz-Blanco, José Luis and Strom, Tim M and Meitinger, Thomas and Morrison, Karen E and Lauria, Giuseppe and Williams, Kelly L and Leigh, P Nigel and Nicholson, Garth A and Blair, Ian P and Leblond, Claire S and Dion, Patrick A and Rouleau, Guy A and Pall, Hardev and Shaw, Pamela J and Turner, Martin R and Talbot, Kevin and Taroni, Franco and Boylan, Kevin B and Van Blitterswijk, Marka and Rademakers, Rosa and Esteban-Pérez, Jesús and García-Redondo, Alberto and Van Damme, Phillip and Robberecht, Wim and Chio, Aiano and Gellera, Cinzia and pper, Carsten and Sendtner, Michael and Ratti, Antonia and Glass, Jonathan D and Mora, Jesús S and Basak, Nazli A and Hardiman, Orla and Ludolph, Albert C and Andersen, Peter M and Weishaupt, Jochen H and Brown, Robert H and Al-Chalabi, Ammar and Silani, Vincenzo and Shaw, Christopher E and van den Berg, Leonard H and Veldink, Jan H and Landers, John E
Nature Genetics, ISSN 1061-4036, 07/2016, Volume 48, Issue 9, p. 1037–1042
To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted whole-exome analyses of 1,022 index familial ALS (FALS) cases and... 
Journal Article
by van Rheenen, Wouter and Shatunov, Aleksey and Dekker, Annelot M and McLaughlin, Russell L and Diekstra, Frank P and Pulit, Sara L and van der Spek, Rick A. A and Vosa, Urmo and de Jong, Simone and Robinson, Matthew R and Yang, Jian and Fogh, Isabella and van Doormaal, Perry T. C and Tazelaar, Gijs H. P and Koppers, Max and Blokhuis, Anna M and Sproviero, William and Jones, Ashley R and Kenna, Kevin P and van Eijk, Kristel R and Harschnitz, Oliver and Schellevis, Raymond D and Brands, William J and Medic, Jelena and Menelaou, Anoniki and Vajda, Alice and Ticozzi, Nicola and Lin, Kuang and Rogelj, Boris and Vrabec, Katarina and Ravnik-Glavac, Metka and Koritnik, Blazi and Zidar, Janez and Leonardis, Lea and Groselj, Leja Dolenc and Millecamps, Stephanie and Salachas, Francois and Meininger, Vincent and de Carvalho, Mamede and Pinto, Susana and Mora, Jesus S and Rojas-Garcia, Ricardo and Polak, Meraida and Chanan, Siddharthan and Colville, Shuna and Swingler, Robert and Morrison, Karen E and Shaw, Pamela J and Hardy, John and Orrell, Richard W and Pittman, Alan and Sidle, Katie and Fratta, Pietro and Malaspina, Anea and Topp, Simon and Petri, Susanne and Abdulla, Susanne and pper, Carsten and Sendtner, Michael and Meyer, Thomas and Ophoff, Roel A and Staats, Kim A and Wiedau-Pazos, Martina and Lomen-Hoerth, Catherine and Van Deerlin, Vivianna M and Trojanowski, John Q and Elman, Lauren and McCluskey, Leo and Basak, A. Nazli and Tunca, Ceren and Hamzeiy, Hamid and Parman, Yesim and Meitinger, Thomas and Lichtner, Peter and Radivojkov-Blagojevic, Milena and Anes, Christian R and Maurel, Cindy and Bensimon, Gilbert and Landwehrmeyer, Bernhard and Brice, Alexis and Payan, Christine A. M and Saker-Delye, Safaa and Duerr, Alexana and Wood, Nicholas W and Tittmann, Lukas and Lieb, Wolfgang and Franke, Ane and Rietschel, Marcella and Cichon, Sven and Noethen, Markus M and Amouyel, Philippe and Tzourio, Christophe and Dartigues, Jean-Francois and Uitterlinden, Ane G and Rivadeneira, Fernando and Estrada, Karol and Hofman, Albert and Curtis, Charles and Blauw, Hylke M and van der Kooi, Anneke J and ...
Nature Genetics, ISSN 1061-4036, 09/2016, Volume 48, Issue 9, pp. 1043 - +
To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from... 
Journal Article