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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
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Acta neuropathologica, ISSN 0001-6322, 2018, Volume 136, Issue 6, pp. 821 - 853
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Annals of clinical and translational neurology, ISSN 2328-9503, 2015, Volume 2, Issue 4, pp. 417 - 426
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The Lancet (British edition), ISSN 0140-6736, 2015, Volume 385, Issue 9972, pp. 977 - 1010
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Neuron (Cambridge, Mass.), ISSN 0896-6273, 2013, Volume 79, Issue 6, pp. 1094 - 1108
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