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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
Lancet Neurology, The, ISSN 1474-4422, 2014, Volume 13, Issue 11, pp. 1108 - 1113
Journal Article
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, ISSN 0305-1846, 08/2015, Volume 41, Issue 5, pp. 578 - 597
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, pp. 345 - 353
Journal Article
by Johnson, Janel O and Pioro, Erik P and Boehringer, Ashley and Chia, Ruth and Feit, Howard and Renton, Alan E and Pliner, Hannah A and Abramzon, Yevgeniya and Marangi, Giuseppe and Winborn, Brett J and Gibbs, J. Raphael and Nalls, Michael A and Morgan, Sarah and Shoai, Maryam and Hardy, John and Pittman, Alan and Orrell, Richard W and Malaspina, Andrea and Sidle, Katie C and Fratta, Pietro and Harms, Matthew B and Baloh, Robert H and Pestronk, Alan and Weihl, Conrad C and Rogaeva, Ekaterina and Zinman, Lorne and Drory, Vivian E and Borghero, Giuseppe and Mora, Gabriele and Calvo, Andrea and Rothstein, Jeffrey D and Drepper, Carsten and Sendtner, Michael and Singleton, Andrew B and Taylor, J Paul and Cookson, Mark R and Restagno, Gabriella and Sabatelli, Mario and Bowser, Robert and Chio`, Adriano and Traynor, Bryan J and Moglia, Cristina and Cammarosano, Stefania and Canosa, Antonio and Gallo, Sara and Brunetti, Maura and Ossola, Irene and Marinou, Kalliopi and Papetti, Laura and Pisano, Fabrizio and Pinter, Giuseppe Lauria and Conte, Amelia and Luigetti, Marco and Zollino, Marcella and Lattante, Serena and Marangi, Giuseppe and la Bella, Vincenzo and Spataro, Rossella and Colletti, Tiziana and Battistini, Stefania and Ricci, Claudia and Caponnetto, Claudia and Mancardi, Gianluigi and Mandich, Paola and Salvi, Fabrizio and Bartolomei, Ilaria and Mandrioli, Jessica and Sola, Patrizia and Lunetta, Christian and Penco, Silvana and Monsurrò, Maria Rosaria and Conforti, Francesca Luisa and Tedeschi, Gioacchino and Gambardella, Antonio and Quattrone, Aldo and Volanti, Paolo and Floris, Gianluca and Cannas, Antonino and Piras, Valeria and Marrosu, Francesco and Marrosu, Maria Giovanna and Murru, Maria Rita and Pugliatti, Maura and Parish, Leslie D and Sotgiu, Alessandra and Solinas, Giuliana and Ulgheri, Lucia and Ticca, Anna and Simone, Isabella and Logroscino, Giancarlo and Pirisi, Angelo and ITALSGEN
Nature Neuroscience, ISSN 1097-6256, 2014, Volume 17, Issue 5, pp. 664 - 666
Journal Article
Neuropathology and Applied Neurobiology, ISSN 0305-1846, 2015, Volume 41, Issue 5, pp. 578 - 597
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