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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 Warren, Wesley C and Hillier, LaDeana W and Marshall Graves, Jennifer A and Birney, Ewan and Ponting, Chris P and Grützner, Frank and Belov, Katherine and Miller, Webb and Clarke, Laura and Chinwalla, Asif T and Yang, Shiaw-Pyng and Heger, Andreas and Locke, Devin P and Miethke, Pat and Waters, Paul D and Veyrunes, Frédéric and Fulton, Lucinda and Fulton, Bob and Graves, Tina and Wallis, John and Puente, Xose S and López-Otín, Carlos and Ordóñez, Gonzalo R and Eichler, Evan E and Chen, Lin and Cheng, Ze and Deakin, Janine E and Alsop, Amber and Thompson, Katherine and Kirby, Patrick and Papenfuss, Anthony T and Wakefield, Matthew J and Olender, Tsviya and Lancet, Doron and Huttley, Gavin A and Smit, Arian F. A and Pask, Andrew and Temple-Smith, Peter and Batzer, Mark A and Walker, Jerilyn A and Konkel, Miriam K and Harris, Robert S and Whittington, Camilla M and Wong, Emily S. W and Gemmell, Neil J and Buschiazzo, Emmanuel and Vargas Jentzsch, Iris M and Merkel, Angelika and Schmitz, Juergen and Zemann, Anja and Churakov, Gennady and Ole Kriegs, Jan and Brosius, Juergen and Murchison, Elizabeth P and Sachidanandam, Ravi and Smith, Carly and Hannon, Gregory J and Tsend-Ayush, Enkhjargal and McMillan, Daniel and Attenborough, Rosalind and Rens, Willem and Ferguson-Smith, Malcolm and Lefèvre, Christophe M and Sharp, Julie A and Nicholas, Kevin R and Ray, David A and Kube, Michael and Reinhardt, Richard and Pringle, Thomas H and Taylor, James and Jones, Russell C and Nixon, Brett and Dacheux, Jean-Louis and Niwa, Hitoshi and Sekita, Yoko and Huang, Xiaoqiu and Stark, Alexander and Kheradpour, Pouya and Kellis, Manolis and Flicek, Paul and Chen, Yuan and Webber, Caleb and Hardison, Ross and Nelson, Joanne and Hallsworth-Pepin, Kym and Delehaunty, Kim and Markovic, Chris and Minx, Pat and Feng, Yucheng and Kremitzki, Colin and Mitreva, Makedonka and Glasscock, Jarret and Wylie, Todd and Wohldmann, Patricia and Thiru, Prathapan and Nhan, Michael N and Pohl, Craig S and Smith, Scott M and Hou, Shunfeng and Renfree, Marilyn B and ... and A list of authors and their affiliations appears at the end of the paper
Nature, ISSN 0028-0836, 05/2008, Volume 453, Issue 7192, pp. 175 - 183
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PLoS ONE, ISSN 1932-6203, 01/2014, Volume 9, Issue 1, p. e87508
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Circulation, ISSN 0009-7322, 03/2017, Volume 135, Issue 11, pp. 1075 - 1092
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Neuropathology and Applied Neurobiology, ISSN 0305-1846, 02/2015, Volume 41, Issue 2, pp. 201 - 226
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Acta neuropathologica communications, ISSN 2051-5960, 03/2017, Volume 5, Issue 1, p. 23
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