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BIOINFORMATICS, ISSN 1367-4803, 07/2019, Volume 35, Issue 14, pp. I538 - I547
Motivation Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease caused by aberrations in the genome. While several disease-causing variants have... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | SUSCEPTIBILITY | BIOCHEMICAL RESEARCH METHODS | MATHEMATICAL & COMPUTATIONAL BIOLOGY | COMMON | ANALYSES IDENTIFY | WIDE ASSOCIATION | IMPAIRMENT
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 Nicolas, Aude and Kenna, Kevin P and Kenna, Aoife and Kenna, Kevin and Kenna, Brendan J and Renton, Alan E and Ticozzi, Nicola and Faghri, Faraz and Chia, Ruth and Dominov, Janice A and Nalls, Mike A and Keagle, Pamela and Rivera, Alberto M and van Rheenen, Wouter and Murphy, Natalie A and van Vugt, Joke and van Vugt, Joke J.F.A and Geiger, Joshua T and Van der Spek, Rick A and Pliner, Hannah A and Shankaracharya and Smith, Bradley N and Marangi, Giuseppe and Topp, Simon D and Abramzon, Yevgeniya and Gkazi, Athina Soragia and Eicher, John D and Logullo, Francesco O and Simone, Isabella and Simone, Isabella L and Logroscino, Giancarlo and Salvi, Fabrizio and Bartolomei, Ilaria and Borghero, Giuseppe and Murru, Maria Rita and Costantino, Emanuela and Pani, Carla and Puddu, Roberta and Caredda, Carla and Piras, Valeria and Tranquilli, Stefania and Cuccu, Stefania and Corongiu, Daniela and Melis, Maurizio and Milia, Antonio and Marrosu, Francesco and Marrosu, Maria Giovanna and Floris, Gianluca and Cannas, Antonino and Capasso, Margherita and Caponnetto, Claudia and Mancardi, Gianluigi and Origone, Paola and Mandich, Paola and Conforti, Francesca L and Cavallaro, Sebastiano and Mora, Gabriele and Mora, Jesús S and Marinou, Kalliopi and Sideri, Riccardo and Penco, Silvana and Mosca, Lorena and Lunetta, Christian and Pinter, Giuseppe Lauria and Corbo, Massimo and Riva, Nilo and Carrera, Paola and Volanti, Paolo and Mandrioli, Jessica and Fini, Nicola and Fasano, Antonio and Tremolizzo, Lucio and Arosio, Alessandro and Ferrarese, Carlo and Trojsi, Francesca and Tedeschi, Gioacchino and Monsurrò, Maria Rosaria and Piccirillo, Giovanni and Femiano, Cinzia and Ticca, Anna and Ortu, Enzo and La Bella, Vincenzo and Spataro, Rossella and Colletti, Tiziana and Sabatelli, Mario and Zollino, Marcella and Conte, Amelia and Luigetti, Marco and Lattante, Serena and Santarelli, Marialuisa and Petrucci, Antonio and Pugliatti, Maura and Pirisi, Angelo and Parish, Leslie D and Occhineri, Patrizia and Giannini, Fabio and Battistini, Stefania and Ricci, Claudia and Benigni, Michele and Cau, Tea B and ... and Genomic Translation ALS Care GTAC and ALS Sequencing Consortium and Clinical Res ALS Related Disorders and NYGC ALS Consortium and ITALSGEN Consortium and SLAGEN Consortium and French ALS Consortium and Project MinE ALS Sequencing Consor and Answer ALS Fdn and Project MinE ALS Sequencing Consortium and Genomic Translation for ALS Care (GTAC) Consortium and Answer ALS Foundation and Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium and Medicinska fakulteten and Institutionen för farmakologi och klinisk neurovetenskap and Umeå universitet
Neuron, ISSN 0896-6273, 03/2018, Volume 97, Issue 6, pp. 1268 - 1283.e6
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 10/2018, Volume 26, Issue 10, pp. 1537 - 1546
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 04/2019, Volume 9, Issue 1, pp. 5931 - 8
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that affects 1 in similar to 350 individuals. Genetic association studies have... 
GENETIC-VARIATION | PLINK | MULTIDISCIPLINARY SCIENCES | INJURY | POWER | ANALYSES IDENTIFY | LINKAGE | HEXANUCLEOTIDE REPEAT | ASSOCIATION | C9ORF72 | STRATEGIES | Nek1 protein | Statistical analysis | Genotyping | Neurodegenerative diseases | Amyotrophic lateral sclerosis | Heritability | Genomes | Genetic diversity | Variation | Sclerosis
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 09/1971, Volume 55, Issue 9, p. 607
BackgroundRolandic epilepsy (RE) is the most common genetic childhood epilepsy, consisting of focal, nocturnal seizures and frequent neurodevelopmental... 
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