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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
Journal Article
The Journal of Physiology, ISSN 0022-3751, 08/2017, Volume 595, Issue 16, pp. 5525 - 5544
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 4/2016, Volume 131, Issue 4, pp. 587 - 604
Deposition of the nuclear DNA/RNA-binding protein Fused in sarcoma (FUS) in cytosolic inclusions is a common hallmark of some cases of frontotemporal lobar... 
Pathology | Neurosciences | Protein arginine methyltransferase 1 (PRMT1) | Transportin-1 | Medicine & Public Health | Frontotemporal lobar degeneration (FTLD) | Amyotrophic lateral sclerosis (ALS) | Neurodegeneration | Fused in sarcoma (FUS) | Arginine methylation | NUCLEAR IMPORT | PROTEIN ARGININE METHYLTRANSFERASE | AMYOTROPHIC-LATERAL-SCLEROSIS | PATHOLOGY | FRONTOTEMPORAL LOBAR DEGENERATION | NEUROSCIENCES | MASS-SPECTROMETRY | CLINICAL NEUROLOGY | METHYLATION SITES | FET PROTEINS | LINKED MUTATIONS | IN-VIVO | SARCOMA EWS PROTEIN | Protein Binding - genetics | Embryo, Mammalian | Humans | Male | Cerebral Cortex - cytology | RNA-Binding Protein FUS - immunology | Frontotemporal Lobar Degeneration - metabolism | beta Karyopherins - immunology | Protein Binding - drug effects | Female | Neurons - metabolism | Protein-Arginine N-Methyltransferases - genetics | Inclusion Bodies - metabolism | Neurons - drug effects | Amyotrophic Lateral Sclerosis - genetics | Mice, Inbred C57BL | Cells, Cultured | Enzyme Inhibitors - pharmacology | Rats | Inclusion Bodies - drug effects | RNA-Binding Protein FUS - metabolism | Mice, Knockout | Protein-Arginine N-Methyltransferases - metabolism | Antibodies - pharmacology | Animals | Amyotrophic Lateral Sclerosis - metabolism | Mice | Embryonic Stem Cells | Frontotemporal Lobar Degeneration - genetics | beta Karyopherins - metabolism | Methylation | Arginine - metabolism | Monoclonal antibodies | Amyotrophic lateral sclerosis | Chemical properties | Sarcoma | Transferases | Protein binding
Journal Article
by Kovacs, Gabor G and Ferrer, Isidro and Grinberg, Lea T and Alafuzoff, Irina and Attems, Johannes and Budka, Herbert and Cairns, Nigel J and Crary, John F and Duyckaerts, Charles and Ghetti, Bernardino and Halliday, Glenda M and Ironside, James W and Love, Seth and Mackenzie, Ian R and Munoz, David G and Murray, Melissa E and Nelson, Peter T and Takahashi, Hitoshi and Trojanowski, John Q and Ansorge, Olaf and Arzberger, Thomas and Baborie, Atik and Beach, Thomas G and Bieniek, Kevin F and Bigio, Eileen H and Bodi, Istvan and Dugger, Brittany N and Feany, Mel and Gelpi, Ellen and Gentleman, Stephen M and Giaccone, Giorgio and Hatanpaa, Kimmo J and Heale, Richard and Hof, Patrick R and Hofer, Monika and Hortobágyi, Tibor and Jellinger, Kurt and Jicha, Gregory A and Ince, Paul and Kofler, Julia and Kövari, Enikö and Kril, Jillian J and Mann, David M and Matej, Radoslav and McKee, Ann C and McLean, Catriona and Milenkovic, Ivan and Montine, Thomas J and Murayama, Shigeo and Lee, Edward B and Rahimi, Jasmin and Rodriguez, Roberta D and Rozemüller, Annemieke and Schneider, Julie A and Schultz, Christian and Seeley, William and Seilhean, Danielle and Smith, Colin and Tagliavini, Fabrizio and Takao, Masaki and Thal, Dietmar Rudolf and Toledo, Jon B and Tolnay, Markus and Troncoso, Juan C and Vinters, Harry V and Weis, Serge and Wharton, Stephen B and White III, Charles L and Wisniewski, Thomas and Woulfe, John M and Yamada, Masahito and Dickson, Dennis W and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Uppsala universitet
Acta Neuropathologica, ISSN 0001-6322, 1/2016, Volume 131, Issue 1, pp. 87 - 102
Journal Article
Neurobiology of Aging, ISSN 0197-4580, 2015, Volume 36, Issue 3, pp. 1605.e7 - 1605.e12
Journal Article