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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 | 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 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 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 Zhang, Ming and Ferrari, Raffaele and Tartaglia, Maria Carmela and Keith, Julia and Surace, Ezequiel I and Wolf, Uri and Sato, Christine and Grinberg, Mark and Liang, Yan and Xi, Zhengrui and Dupont, Kyle and McGoldrick, Philip and Weichert, Anna and McKeever, Paul M and Schneider, Raphael and McCorkindale, Michael D and Manzoni, Claudia and Rademakers, Rosa and Graff-Radford, Neill R and Dickson, Dennis W and Parisi, Joseph E and Boeve, Bradley F and Petersen, Ronald C and Miller, Bruce L and Seeley, William W and van Swieten, John C and van Rooij, Jeroen and Pijnenburg, Yolande and van der Zee, Julie and Van Broeckhoven, Christine and Le Ber, Isabelle and Van Deerlin, Vivianna and Suh, EunRan and Rohrer, Jonathan D and Mead, Simon and Graff, Caroline and Öijerstedt, Linn and Pickering-Brown, Stuart and Rollinson, Sara and Rossi, Giacomina and Tagliavini, Fabrizio and Brooks, William S and Dobson-Stone, Carol and Halliday, Glenda M and Hodges, John R and Piguet, Olivier and Binetti, Giuliano and Benussi, Luisa and Ghidoni, Roberta and Nacmias, Benedetta and Sorbi, Sandro and Bruni, Amalia C and Galimberti, Daniela and Scarpini, Elio and Rainero, Innocenzo and Rubino, Elisa and Clarimon, Jordi and Lleó, Alberto and Ruiz, Agustin and Hernández, Isabel and Pastor, Pau and Diez-Fairen, Monica and Borroni, Barbara and Pasquier, Florence and Deramecourt, Vincent and Lebouvier, Thibaud and Perneczky, Robert and Diehl-Schmid, Janine and Grafman, Jordan and Huey, Edward D and Mayeux, Richard and Nalls, Michael A and Hernandez, Dena and Singleton, Andrew and Momeni, Parastoo and Zeng, Zhen and Hardy, John and Robertson, Janice and Zinman, Lorne and Rogaeva, Ekaterina and Int FTD-Genomics Consortium IFGC and International FTD-Genomics Consortium (IFGC)
Brain, ISSN 0006-8950, 10/2018, Volume 141, Issue 10, pp. 2895 - 2907
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by Coppola, Giovanni and Chinnathambi, Subashchandrabose and Lee, Jason JiYong and Dombroski, Beth A and Baker, Matt C and Soto-ortolaza, Alexandra I and Lee, Suzee E and Klein, Eric and Huang, Alden Y and Sears, Renee and Lane, Jessica R and Karydas, Anna M and Kenet, Robert O and Biernat, Jacek and Wang, Li-San and Cotman, Carl W and Decarli, Charles S and Levey, Allan I and Ringman, John M and Mendez, Mario F and Chui, Helena C and Le ber, Isabelle and Brice, Alexis and Lupton, Michelle K and Preza, Elisavet and Lovestone, Simon and Powell, John and Graff-radford, Neill and Petersen, Ronald C and Boeve, Bradley F and Lippa, Carol F and Bigio, Eileen H and Mackenzie, Ian and Finger, Elizabeth and Kertesz, Andrew and Caselli, Richard J and Gearing, Marla and Juncos, Jorge L and Ghetti, Bernardino and Spina, Salvatore and Bordelon, Yvette M and Tourtellotte, Wallace W and Frosch, Matthew P and Vonsattel, Jean Paul G and Zarow, Chris and Beach, Thomas G and Albin, Roger L and Lieberman, Andrew P and Lee, Virginia M and Trojanowski, John Q and Van deerlin, Vivianna M and Bird, Thomas D and Galasko, Douglas R and Masliah, Eliezer and White, Charles L and Troncoso, Juan C and Hannequin, Didier and Boxer, Adam L and Geschwind, Michael D and Kumar, Satish and Mandelkow, Eva-Maria and Wszolek, Zbigniew K and Uitti, Ryan J and Dickson, Dennis W and Haines, Jonathan L and Mayeux, Richard and Pericak-vance, Margaret A and Farrer, Lindsay A and Apostolova, Liana G and Arnold, Steven E and Baldwin, Clinton T and Barber, Robert and Barmada, Michael M and Beach, Thomas and Beecham, Gary W and Beekly, Duane and Bennett, David A and Bigio, Eileen H and Bird, Thomas D and Blacker, Deborah and Boeve, Bradley F and Bowen, James D and Boxer, Adam and Burke, James R and Buros, Jacqueline and Buxbaum, Joseph D and Cairns, Nigel J and Cantwell, Laura B and Cao, Chuanhai and Carlson, Chris S and Carney, Regina M and Carrasquillo, Minerva M and Carroll, Steven L and Chui, Helena C and Clark, David G and Corneveaux, Jason and Cotman, Carl W and Crane, Paul K and Cruchaga, Carlos and Cummings, Jeffrey L and ... and Alzheimer's Dis Genetics Consortiu and Alzheimer's Disease Genetics Consortium
Human Molecular Genetics, ISSN 0964-6906, 2012, Volume 21, Issue 15, pp. 3500 - 3512
Journal Article