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by Sims, Rebecca and Van Der Lee, Sven J and Naj, Adam C and Bellenguez, Céline and Badarinarayan, Nandini and Jakobsdottir, Johanna and Kunkle, Brian W and Boland, Anne and Raybould, Rachel and Bis, Joshua C and Martin, Eden R and Grenier-Boley, Benjamin and Heilmann-Heimbach, Stefanie and Chouraki, Vincent and Kuzma, Amanda B and Sleegers, Kristel and Vronskaya, Maria and Ruiz, Agustin and Graham, Robert R and Olaso, Robert and Hoffmann, Per and Grove, Megan L and Vardarajan, Badri N and Hiltunen, Mikko and Nöthen, Markus M and White, Charles C and Hamilton-Nelson, Kara L and Epelbaum, Jacques and Maier, Wolfgang and Choi, Seung-Hoan and Beecham, Gary W and Dulary, Cécile and Herms, Stefan and Smith, Albert V and Funk, Cory C and Derbois, Céline and Forstner, Andreas J and Ahmad, Shahzad and Li, Hongdong and Bacq, Delphine and Harold, Denise and Satizabal, Claudia L and Valladares, Otto and Squassina, Alessio and Thomas, Rhodri and Brody, Jennifer A and Qu, Liming and Sánchez-Juan, Pascual and Morgan, Taniesha and Wolters, Frank J and Zhao, Yi and Garcia, Florentino Sanchez and Denning, Nicola and Fornage, Myriam and Malamon, John and Naranjo, Maria Candida Deniz and Majounie, Elisa and Mosley, Thomas H and Dombroski, Beth and Wallon, David and Lupton, Michelle K and Dupuis, Josée and Whitehead, Patrice and Fratiglioni, Laura and Medway, Christopher and Jian, Xueqiu and Mukherjee, Shubhabrata and Keller, Lina and Brown, Kristelle and Lin, Honghuang and Cantwell, Laura B and Panza, Francesco and McGuinness, Bernadette and Moreno-Grau, Sonia and Burgess, Jeremy D and Solfrizzi, Vincenzo and Proitsi, Petra and Adams, Hieab H and Allen, Mariet and Seripa, Davide and Pastor, Pau and Cupples, L Adrienne and Price, Nathan D and Hannequin, Didier and Frank-García, Ana and Levy, Daniel and Chakrabarty, Paramita and Caffarra, Paolo and Giegling, Ina and Beiser, Alexa S and Giedraitis, Vilmantas and Hampel, Harald and Garcia, Melissa E and Wang, Xue and Lannfelt, Lars and Mecocci, Patrizia and Eiriksdottir, Gudny and Crane, Paul K and Pasquier, Florence and Boccardi, Virginia and ... and EADI and GERAD PERADES and ARUKConsortium and CHARGE and ADGC and GERAD/PERADES, CHARGE, ADGC, EADI and ARUK Consortium and Stockholms universitet and Centrum för forskning om äldre och åldrande (ARC), (tills m KI) and Samhällsvetenskapliga fakulteten
Nature Genetics, ISSN 1061-4036, 09/2017, Volume 49, Issue 9, pp. 1373 - 1384
Journal Article
by Ferrari, Raffaele, PhD and Hernandez, Dena G, MSc and Nalls, Michael A, PhD and Rohrer, Jonathan D, PhD and Ramasamy, Adaikalavan, PhD and Kwok, John B J, PhD and Dobson-Stone, Carol, PhD and Brooks, William S, MBBS and Schofield, Peter R, Prof and Halliday, Glenda M, Prof and Hodges, John R, Prof and Piguet, Olivier, PhD and Bartley, Lauren, MSc and Thompson, Elizabeth, MD and Haan, Eric, Prof and Hernández, Isabel, MD and Ruiz, Agustín, MD and Boada, Mercè, MD and Borroni, Barbara, MD and Padovani, Alessandro, Prof and Cruchaga, Carlos, PhD and Cairns, Nigel J, Prof and Benussi, Luisa, PhD and Binetti, Giuliano, MD and Ghidoni, Roberta, PhD and Forloni, Gianluigi, PhD and Galimberti, Daniela, PhD and Fenoglio, Chiara, PhD and Serpente, Maria, PhD and Scarpini, Elio, MD and Clarimón, Jordi, PhD and Lleó, Alberto, MD and Blesa, Rafael, MD and Waldö, Maria Landqvist, MD and Nilsson, Karin, PhD and Nilsson, Christer, PhD and Mackenzie, Ian R A, Prof and Hsiung, Ging-Yuek R, MD and Mann, David M A, Prof and Grafman, Jordan, Prof and Morris, Christopher M, PhD and Attems, Johannes, Prof and Griffiths, Timothy D, Prof and McKeith, Ian G, Prof and Thomas, Alan J, Prof and Pietrini, P, Prof and Huey, Edward D, MD and Wassermann, Eric M, MD and Baborie, Atik, MD and Jaros, Evelyn, PhD and Tierney, Michael C, MSc and Pastor, Pau, MD and Razquin, Cristina, PhD and Ortega-Cubero, Sara, MD and Alonso, Elena, BSc and Perneczky, Robert, MD and Diehl-Schmid, Janine, MD and Alexopoulos, Panagiotis, MD and Kurz, Alexander, MD and Rainero, Innocenzo, MD and Rubino, Elisa, MD and Pinessi, Lorenzo, Prof and Rogaeva, Ekaterina, PhD and St George-Hyslop, Peter, MD and Rossi, Giacomina, PhD and Tagliavini, Fabrizio, MD and Giaccone, Giorgio, MD and Rowe, James B, PhD and Schlachetzki, Johannes C M, MD and Uphill, James, BSc and Collinge, John, Prof and Mead, Simon, Prof and Danek, Adrian, MD and Van Deerlin, Vivianna M, PhD and Grossman, Murray, Prof and Trojanowski, John Q, Prof and van der Zee, Julie, PhD and Deschamps, William, MSc and Van Langenhove, Tim, MD and Cruts, Marc, PhD and Van Broeckhoven, Christine, Prof and Cappa, Stefano F, Prof and Le Ber, Isabelle, MD and Hannequin, Didier, Prof and Golfier, Véronique, MD and Vercelletto, Martine, MD and Brice, Alexis, MD and Nacmias, Benedetta, PhD and Sorbi, Sandro, Prof and Bagnoli, Silvia, PhD and Piaceri, Irene, PhD and Nielsen, Jørgen E, MD and Hjermind, Lena E, MD and Riemenschneider, Matthias, Prof and Mayhaus, Manuel, PhD and Ibach, Bernd, PhD and Gasparoni, Gilles, PhD and Pichler, Sabrina, MSc and Gu, Wei, PhD and Rossor, Martin N, Prof and ... and Lund University and Psychiatry (Lund) and MultiPark: Multidisciplinary research focused on Parkinson´s disease and Psykiatri, Lund and Lunds universitet
Lancet Neurology, The, ISSN 1474-4422, 2014, Volume 13, Issue 7, pp. 686 - 699
Journal Article
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 | 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
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
by Naj, Adam C and Jun, Gyungah and Beecham, Gary W and Wang, Li-San and Vardarajan, Badri Narayan and Buros, Jacqueline and Gallins, Paul J and Buxbaum, Joseph D and Jarvik, Gail P and Crane, Paul K and Larson, Eric B and Bird, Thomas D and Boeve, Bradley F and Graff-Radford, Neill R and De Jager, Philip L and Evans, Denis and Schneider, Julie A and Carrasquillo, Minerva M and Ertekin-Taner, Nilufer and Younkin, Steven G and Cruchaga, Carlos and Kauwe, John S. K and Nowotny, Petra and Kramer, Patricia and Hardy, John and Huentelman, Matthew J and Myers, Amanda J and Barmada, Michael M and Demirci, F Yesim and Baldwin, Clinton T and Green, Robert C and Rogaeva, Ekaterina and George-Hyslop, Peter St and Arnold, Steven E and Barber, Robert and Beach, Thomas and Bigio, Eileen H and Bowen, James D and Boxer, Adam and Burke, James R and Cairns, Nigel J and Carlson, Chris S and Carney, Regina M and Carroll, Steven L and Chui, Helena C and Clark, David G and Corneveaux, Jason and Cotman, Carl W and Cummings, Jeffrey L and Decarli, Charles and Dekosky, Steven T and Diaz-Arrastia, Ramon and Dick, Malcolm and Dickson, Dennis W and Ellis, William G and Faber, Kelley M and Fallon, Kenneth B and Farlow, Martin R and Ferris, Steven and Frosch, Matthew P and Galasko, Douglas R and Ganguli, Mary and Gearing, Marla and Geschwind, Daniel H and Ghetti, Bernardino and Gilbert, John R and Gilman, Sid and Giordani, Bruno and Glass, Jonathan D and Growdon, John H and Hamilton, Ronald L and Harrell, Lindy E and Head, Elizabeth and Honig, Lawrence S and Hulette, Christine M and Hyman, Bradley T and Jicha, Gregory A and Jin, Lee-Way and Johnson, Nancy and Karlawish, Jason and Karydas, Anna and Kaye, Jeffrey A and Kim, Ronald and Koo, Edward H and Kowall, Neil W and Lah, James J and Levey, Allan I and Lieberman, Andrew P and Lopez, Oscar L and MacK, Wendy J and Marson, Daniel C and Martiniuk, Frank and Mash, Deborah C and Masliah, Eliezer and McCormick, Wayne C and McCurry, Susan M and McDavid, Andrew N and McKee, Ann C and Mesulam, Marsel and Miller, Bruce L and ...
Nature Genetics, ISSN 1061-4036, 05/2011, Volume 43, Issue 5, pp. 436 - 443
Journal Article