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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
Lancet Neurology, The, ISSN 1474-4422, 2010, Volume 9, Issue 10, pp. 986 - 994
Journal Article
Journal Article
by Smith, Bradley N and Ticozzi, Nicola and Fallini, Claudia and Gkazi, Athina Soragia and Topp, Simon and Kenna, Kevin P and Scotter, Emma L and Kost, Jason and Keagle, Pamela and Miller, Jack W and Calini, Daniela and Vance, Caroline and Danielson, Eric W and Troakes, Claire and Tiloca, Cinzia and Al-Sarraj, Safa and Lewis, Elizabeth A and King, Andrew and Colombrita, Claudia and Pensato, Viviana and Castellotti, Barbara and de Belleroche, Jacqueline and Baas, Frank and ten Asbroek, Anneloor LMA and Sapp, Peter C and McKenna-Yasek, Diane and McLaughlin, Russell L and Polak, Meraida and Asress, Seneshaw and Esteban-Pérez, Jesús and Muñoz-Blanco, José Luis and Simpson, Michael and D’Alfonso, Sandra and Mazzini, Letizia and Comi, Giacomo P and Del Bo, Roberto and Ceroni, Mauro and Gagliardi, Stella and Querin, Giorgia and Bertolin, Cinzia and van Rheenen, Wouter and Diekstra, Frank P and Lauria, Giuseppe and Duga, Stefano and Corti, Stefania and Cereda, Cristina and Corrado, Lucia and Sorarù, Gianni and Morrison, Karen E and Williams, Kelly L and Nicholson, Garth A and Blair, Ian P and Dion, Patrick A and Leblond, Claire S and Rouleau, Guy A and Hardiman, Orla and Veldink, Jan H and van den Berg, Leonard H and Al-Chalabi, Ammar and Pall, Hardev and Shaw, Christopher E and Shaw, Pamela J and Turner, Martin R and Talbot, Kevin and Taroni, Franco and García-Redondo, Alberto and Wu, Zheyang and Glass, Jonathan D and Gellera, Cinzia and Ratti, Antonia and Brown, Robert H and Silani, Vincenzo and Landers, John E and SLAGEN Consortium
Neuron, ISSN 0896-6273, 10/2014, Volume 84, Issue 2, pp. 324 - 331
Journal Article
by Kenna, Kevin P and van Doormaal, Perry T. C and Dekker, Annelot M and Ticozzi, Nicola and Kenna, Brendan J and Diekstra, Frank P and van Rheenen, Wouter and van Eijk, Kristel R and Jones, Ashley R and Keagle, Pamela and Shatunov, Aleksey and Sproviero, William and Smith, Bradley N and van Es, Michael A and Topp, Simon D and Kenna, Aoife and Miller, Jack W and Fallini, Claudia and Tiloca, Cinzia and McLaughlin, Russell L and Vance, Caroline and Troakes, Claire and Colombrita, Claudia and Mora, Gabriele and Calvo, Anea and Verde, Federico and Al-Sarraj, Safa and King, Anew and Calini, Daniela and de Belleroche, Jacqueline and Baas, Frank and van der Kooi, Anneke J and de Visser, Marianne and ten Asbroek, Anneloor L. M. A and Sapp, Peter C and McKenna-Yasek, Diane and Polak, Meraida and Asress, Seneshaw and Muñoz-Blanco, José Luis and Strom, Tim M and Meitinger, Thomas and Morrison, Karen E and Lauria, Giuseppe and Williams, Kelly L and Leigh, P. Nigel and Nicholson, Garth A and Blair, Ian P and Leblond, Claire S and Dion, Patrick A and Rouleau, Guy A and Pall, Hardev and Shaw, Pamela J and Turner, Martin R and Talbot, Kevin and Taroni, Franco and Boylan, Kevin B and van Blitterswijk, Marka and Rademakers, Rosa and Esteban-Pérez, Jesús and García-Redondo, Alberto and van Damme, Phillip and Robberecht, Wim and Chio, Aiano and Gellera, Cinzia and pper, Carsten and Sendtner, Michael and Ratti, Antonia and Glass, Jonathan D and Mora, Jesús S and Basak, Nazli A and Hardiman, Orla and Ludolph, Albert C and Andersen, Peter M and Weishaupt, Jochen H and Brown, Robert H and Al-Chalabi, Ammar and Silani, Vincenzo and Shaw, Christopher E and van den Berg, Leonard H and Veldink, Jan H and Landers, John E and D'alfonso, Sana and Mazzini, Letizia and Comi, Giacomo P and del Bo, Roberto and Ceroni, Mauro and Gagliardi, Stella and Querin, Giorgia and Bertolin, Cinzia and Pensato, Viviana and Castellotti, Barbara and Corti, Stefania and Cereda, Cristina and Corrado, Lucia and Sorarù, Gianni and SLAGEN Consortium 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. 1037 - 1042
Journal Article
European journal of human genetics, ISSN 1018-4813, 2013, Volume 21, Issue 1, pp. 102 - 108
Journal Article
by Meyer, E and Carss, K.J and Rankin, J and Nichols, J.M and Grozeva, D and Joseph, A.P and Mencacci, N.E and Papaneou, A and Ng, J and Barral, S and Ngoh, A and Ben-Pazi, H and Willemsen, M.A and Arkadir, D and Barnicoat, A and Bergman, H and Bhate, S and Boys, A and Darin, N and Foulds, N and Gutowski, N and Hills, A and Houlden, H and Hurst, J.A and Israel, Z and Kaminska, M and Limousin, P and Lumsden, D and McKee, S and Misra, S and Mohammed, S.S and Nakou, V and Nicolai, J and Nilsson, M and Pall, H and Peall, K.J and Peters, G.B and Prabhakar, P and Reuter, M.S and Rump, P and Segel, R and Sinnema, M and Smith, M and Turnpenny, P and White, S.M and Wieczorek, D and Wiethoff, S and Wilson, B.T and Winter, G and Wragg, C and Pope, S and Heales, S.J and Morrogh, D and Pittman, A and Carr, L.J and Perez-Duenas, B and Lin, J.P and Reis, A and Gahl, W.A and Toro, C and Bhatia, K.P and Wood, N.W and Kamsteeg, E.J and Chong, W.K and Gissen, P and Topf, M and Dale, R.C and Chubb, J.R and Raymond, F.L and Kurian, M.A and NIHR BioResource Rare and Deciphering Dev Disorders Study and UK10K Consortium and Deciphering Developmental Disorders Study and NIHR BioResource Rare Diseases Consortium and Sahlgrenska akademin and Institute of Clinical Sciences, Section for the Health of Women and Children, Department of Pediatrics and Göteborgs universitet and Gothenburg University and Institutionen för kliniska vetenskaper, sektionen för kvinnors och barns hälsa, Avdelningen för pediatrik and Sahlgrenska Academy
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 2, pp. 223 - 237
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 09/2015, Volume 86, Issue 9, pp. e3 - e3
ObjectiveApathy has been reported as a possible adverse effect of deep brain stimulation of the subthalamic nucleus (STN-DBS). We investigated the prevalence... 
Apathy | Usage | Care and treatment | Parkinson's disease | Brain stimulation | Analysis
Journal Article
Journal Article