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by Ardlie, K. G and Deluca, D. S and Segre, A. V and Sullivan, T. J and Young, T. R and Gelfand, E. T and Trowbridge, C. A and Maller, J. B and Tukiainen, T and Lek, M and Ward, L. D and Kheradpour, P and Iriarte, B and Meng, Y and Palmer, C. D and Esko, T and Winckler, W and Hirschhorn, J. N and Kellis, M and MacArthur, D. G and Getz, G and Shabalin, A. A and Li, G and Zhou, Y.-H and Nobel, A. B and Rusyn, I and Wright, F. A and Lappalainen, T and Ferreira, P. G and Ongen, H and Rivas, M. A and Battle, A and Mostafavi, S and Monlong, J and Sammeth, M and Mele, M and Reverter, F and Goldmann, J. M and Koller, D and Guigo, R and McCarthy, M. I and Dermitzakis, E. T and Gamazon, E. R and Im, H. K and Konkashbaev, A and Nicolae, D. L and Cox, N. J and Flutre, T and Wen, X and Stephens, M and Pritchard, J. K and Tu, Z and Zhang, B and Huang, T and Long, Q and Lin, L and Yang, J and Zhu, J and Liu, J and Brown, A and Mestichelli, B and Tidwell, D and Lo, E and Salvatore, M and Shad, S and Thomas, J. A and Lonsdale, J. T and Moser, M. T and Gillard, B. M and Karasik, E and Ramsey, K and Choi, C and Foster, B. A and Syron, J and Fleming, J and Magazine, H and Hasz, R and Walters, G. D and Bridge, J. P and Miklos, M and Sullivan, S and Barker, L. K and Traino, H. M and Mosavel, M and Siminoff, L. A and Valley, D. R and Rohrer, D. C and Jewell, S. D and Branton, P. A and Sobin, L. H and Barcus, M and Qi, L and McLean, J and Hariharan, P and Um, K. S and Wu, S and Tabor, D and Shive, C and Smith, A. M and Buia, S. A and ... and The GTEx Consortium and GTEx Consortium
Science (American Association for the Advancement of Science), ISSN 1095-9203, 2015, Volume 348, Issue 6235, pp. 648 - 660
Journal Article
by Majounie, Elisa and Renton, Alan E and Mok, Kin and Dopper, Elise GP and Waite, Adrian and Rollinson, Sara and Chiò, Adriano and Restagno, Gabriella and Nicolaou, Nayia and Simon-Sanchez, Javier and van Swieten, John C and Abramzon, Yevgeniya and Johnson, Janel O and Sendtner, Michael and Pamphlett, Roger and Orrell, Richard W and Mead, Simon and Sidle, Katie C and Houlden, Henry and Rohrer, Jonathan D and Morrison, Karen E and Pall, Hardev and Talbot, Kevin and Ansorge, Olaf and Hernandez, Dena G and Arepalli, Sampath and Sabatelli, Mario and Mora, Gabriele and Corbo, Massimo and Giannini, Fabio and Calvo, Andrea and Englund, Elisabet and Borghero, Giuseppe and Floris, Gian Luca and Remes, Anne M and Laaksovirta, Hannu and McCluskey, Leo and Trojanowski, John Q and Van Deerlin, Vivianna M and Schellenberg, Gerard D and Nalls, Michael A and Drory, Vivian E and Lu, Chin-Song and Yeh, Tu-Hsueh and Ishiura, Hiroyuki and Takahashi, Yuji and Tsuji, Shoji and Le Ber, Isabelle and Brice, Alexis and Drepper, Carsten and Williams, Nigel and Kirby, Janine and Shaw, Pamela and Hardy, John and Tienari, Pentti J and Heutink, Peter and Morris, Huw R and Pickering-Brown, Stuart and Traynor, Bryan J and The Chromosome 9-ALS/FTD Consortium and The ITALSGEN Consortium and The French research network on FTLD/FTLD/ALS 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
Lancet neurology, 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 and Hernandez, Dena G and Nalls, Michael A and Rohrer, Jonathan D and Ramasamy, Adaikalavan and Kwok, John B J and Dobson-Stone, Carol and Brooks, William S and Schofield, Peter R and Halliday, Glenda M and Hodges, John R and Piguet, Olivier and Bartley, Lauren and Thompson, Elizabeth and Haan, Eric and Hernández, Isabel and Ruiz, Agustín and Boada, Mercè and Borroni, Barbara and Padovani, Alessandro and Cruchaga, Carlos and Cairns, Nigel J and Benussi, Luisa and Binetti, Giuliano and Ghidoni, Roberta and Forloni, Gianluigi and Galimberti, Daniela and Fenoglio, Chiara and Serpente, Maria and Scarpini, Elio and Clarimón, Jordi and Lleó, Alberto and Blesa, Rafael and Waldö, Maria Landqvist and Nilsson, Karin and Nilsson, Christer and Mackenzie, Ian R A and Hsiung, Ging-Yuek R and Mann, David M A and Grafman, Jordan and Morris, Christopher M and Attems, Johannes and Griffiths, Timothy D and McKeith, Ian G and Thomas, Alan J and Pietrini, P and Huey, Edward D and Wassermann, Eric M and Baborie, Atik and Jaros, Evelyn and Tierney, Michael C and Pastor, Pau and Razquin, Cristina and Ortega-Cubero, Sara and Alonso, Elena and Perneczky, Robert and Diehl-Schmid, Janine and Alexopoulos, Panagiotis and Kurz, Alexander and Rainero, Innocenzo and Rubino, Elisa and Pinessi, Lorenzo and Rogaeva, Ekaterina and St George-Hyslop, Peter and Rossi, Giacomina and Tagliavini, Fabrizio and Giaccone, Giorgio and Rowe, James B and Schlachetzki, Johannes C M and Uphill, James and Collinge, John and Mead, Simon and Danek, Adrian and Van Deerlin, Vivianna M and Grossman, Murray and Trojanowski, John Q and van der Zee, Julie and Deschamps, William and Van Langenhove, Tim and Cruts, Marc and Van Broeckhoven, Christine and Cappa, Stefano F and Le Ber, Isabelle and Hannequin, Didier and Golfier, Véronique and Vercelletto, Martine and Brice, Alexis and Nacmias, Benedetta and Sorbi, Sandro and Bagnoli, Silvia and Piaceri, Irene and Nielsen, Jørgen E and Hjermind, Lena E and Riemenschneider, Matthias and Mayhaus, Manuel and Ibach, Bernd and Gasparoni, Gilles and Pichler, Sabrina and Gu, Wei and Rossor, Martin N and ...
Lancet neurology, ISSN 1474-4422, 2014, Volume 13, Issue 7, pp. 686 - 699
Journal Article
Lancet neurology, ISSN 1474-4422, 2015, Volume 14, Issue 3, pp. 253 - 262
Journal Article
by Battle, Alexis and Brown, Christopher D and Engelhardt, Barbara E and Montgomery, Stephen B and Aguet, François and Ardlie, Kristin G and Cummings, Beryl B and Gelfand, Ellen T and Getz, Gad and Hadley, Kane and Handsaker, Robert E and Huang, Katherine H and Kashin, Seva and Karczewski, Konrad J and Lek, Monkol and Li, Xiao and MacArthur, Daniel G and Nedzel, Jared L and Nguyen, Duyen T and Noble, Michael S and Segrè, Ayellet V and Trowbridge, Casana A and Tukiainen, Taru and Abell, Nathan S and Balliu, Brunilda and Barshir, Ruth and Basha, Omer and Bogu, Gireesh K and Brown, Anew and Castel, Stephane E and Chen, Lin S and Chiang, Colby and Conrad, Donald F and Cox, Nancy J and Damani, Farhan N and Davis, Joe R and Delaneau, Olivier and Dermitzakis, Emmanouil T and Eskin, Eleazar and Ferreira, Peo G and Frésard, Laure and Gamazon, Eric R and Garrido-Martín, Diego and Gewirtz, Ariel D. H and Gliner, Genna and Gloudemans, Michael J and Guigo, Roderic and Hall, Ira M and Han, Buhm and He, Yuan and GTEx Consortium and Pathology and Laboratory Data Analysis and Lab Data Anal Coordinating Ct and Stat Methods Grps-Anal Working Grp and Biospecimen Collection Source Sit and Genome Browser Data Integration and Biospecimen Core Resource-Vari and Leidos Biomedical-Project and Genome Browser Data Integr and Enhancing Gtex Egtex Grps and Gtex Consortium and Biospecimen Collection Source and Brain Bank Repository-Univ M and Leidos Biomedical—Project Management and Laboratory, Data Analysis &Coordinating Center (LDACC) and NIH/NCI and Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group and Statistical Methods groups—Analysis Working Group and Biospecimen Collection Source Site—NDRI and NIH/NHGRI and Brain Bank Repository—University of Miami Brain Endowment Bank and Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz and NIH Common Fund and Enhancing GTEx (eGTEx) groups and NIH/NIMH and Genome Browser Data Integration &Visualization—EBI and Lead analysts and Biospecimen Collection Source Site—RPCI and Biospecimen collection and Biospecimen Core Resource—VARI and NIH program management and eQTL manuscript working group and ELSI Study and NIH/NIDA
Nature (London), ISSN 1476-4687, 2017, Volume 550, Issue 7675, pp. 204 - 213
Journal Article