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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 Hoglinger, Gunter and Melhem, Nadine and Dickson, Dennis and Sleiman, Patrick and Wang, L.-S and Klei, Lambertus and Rademakers, Rosa and Silva, Rohan and Litvan, Irene and Riley, David and Swieten, John and Heutink, Peter and Wszolek, Zbigniew and Uitti, Ryan and Vanovcova, Jana and Hurtig, Howard and Gross, Rachel and Maetzler, Walter and Goldwurm, Stefano and Tolosa, E and Borroni, Barbara and Pastor, Pau and Cantwell, Laura and Han, M.R and Dillman, Allissa and Brug, Marcel and Gibbs, Raphael and Cookson, Mark and Hernandez, Dena and Singleton, Anew and Farrer, Matthew and Yu, Changen and Golbe, Lawrence and Revesz, Tamas and Hardy, John and Lees, Anew and Devlin, Bernie and Hakonarson, Hakon and Müller, Ulrich and Schellenberg, Gerard and Albin, Roger and Alonso, Elena and Apfelbacher, Manuela and Arnold, Steven and Avila, Jesús and Beach, Thomas and Beecher, Sherry and Berg, Daniela and Bird, Thomas and Bogdanović, Nenad and Boon, Anea and Bordelon, Yvette and Brice, Alexis and Budka, Herbert and Canesi, Margherita and Chiu, Wang Zheng and Cilia, Roberto and Colosimo, Carlo and Deyn, Peter and Yebenes, J.G and Donker Kaat, Laura and Duara, Ranjan and Durr, A and Engelborghs, Sebastiaan and Fabbrini, Giovanni and Finch, Nicole and Flook, Robyn and Frosch, Matthew and Gaig, C and Galasko, Douglas and Gasser, Thomas and Gearing, Marla and Geller, Evan and Ghetti, Bernardino and Graff-Radford, Neill and Grossman, Murray and Hall, Deborah and Hazrati, L.-N and Höllerhage, Matthias and Jankovic, Joseph and Juncos, Jorge and Karydas, Anna and Kretzschmar, Hans and Leber, Isabelle and Lee, Virginia and Lieberman, Anew and Lyons, Kelly and Mariani, Claudio and Masliah, Eliezer and Massey, Luke and McLean, Catriona and Meucci, Nicoletta and Miller, Bruce and Mollenhauer, Brit and Möller, Jens and Morris, Huw and O'Sullivan, Sean and Oertel, W and Ottaviani, Donatella and Padovani, Alessano and ... and PSP Genetics Study Grp and PSP Genetics Study Group
Nature Genetics, ISSN 1061-4036, 07/2011, Volume 43, Issue 7, pp. 699 - 705
Journal Article
by Ferrari, Raffaele, PhD and Hernandez, Dena G, MSc and Nalls, Michael A, PhD and Rohrer, Jonathan D, PhD and Ramasamy, Adaikalavan, PhD and Kwok, John B J, PhD and Dobson-Stone, Carol, PhD and Brooks, William S, MBBS and Schofield, Peter R, Prof and Halliday, Glenda M, Prof and Hodges, John R, Prof and Piguet, Olivier, PhD and Bartley, Lauren, MSc and Thompson, Elizabeth, MD and Haan, Eric, Prof and Hernández, Isabel, MD and Ruiz, Agustín, MD and Boada, Mercè, MD and Borroni, Barbara, MD and Padovani, Alessandro, Prof and Cruchaga, Carlos, PhD and Cairns, Nigel J, Prof and Benussi, Luisa, PhD and Binetti, Giuliano, MD and Ghidoni, Roberta, PhD and Forloni, Gianluigi, PhD and Galimberti, Daniela, PhD and Fenoglio, Chiara, PhD and Serpente, Maria, PhD and Scarpini, Elio, MD and Clarimón, Jordi, PhD and Lleó, Alberto, MD and Blesa, Rafael, MD and Waldö, Maria Landqvist, MD and Nilsson, Karin, PhD and Nilsson, Christer, PhD and Mackenzie, Ian R A, Prof and Hsiung, Ging-Yuek R, MD and Mann, David M A, Prof and Grafman, Jordan, Prof and Morris, Christopher M, PhD and Attems, Johannes, Prof and Griffiths, Timothy D, Prof and McKeith, Ian G, Prof and Thomas, Alan J, Prof and Pietrini, P, Prof and Huey, Edward D, MD and Wassermann, Eric M, MD and Baborie, Atik, MD and Jaros, Evelyn, PhD and Tierney, Michael C, MSc and Pastor, Pau, MD and Razquin, Cristina, PhD and Ortega-Cubero, Sara, MD and Alonso, Elena, BSc and Perneczky, Robert, MD and Diehl-Schmid, Janine, MD and Alexopoulos, Panagiotis, MD and Kurz, Alexander, MD and Rainero, Innocenzo, MD and Rubino, Elisa, MD and Pinessi, Lorenzo, Prof and Rogaeva, Ekaterina, PhD and St George-Hyslop, Peter, MD and Rossi, Giacomina, PhD and Tagliavini, Fabrizio, MD and Giaccone, Giorgio, MD and Rowe, James B, PhD and Schlachetzki, Johannes C M, MD and Uphill, James, BSc and Collinge, John, Prof and Mead, Simon, Prof and Danek, Adrian, MD and Van Deerlin, Vivianna M, PhD and Grossman, Murray, Prof and Trojanowski, John Q, Prof and van der Zee, Julie, PhD and Deschamps, William, MSc and Van Langenhove, Tim, MD and Cruts, Marc, PhD and Van Broeckhoven, Christine, Prof and Cappa, Stefano F, Prof and Le Ber, Isabelle, MD and Hannequin, Didier, Prof and Golfier, Véronique, MD and Vercelletto, Martine, MD and Brice, Alexis, MD and Nacmias, Benedetta, PhD and Sorbi, Sandro, Prof and Bagnoli, Silvia, PhD and Piaceri, Irene, PhD and Nielsen, Jørgen E, MD and Hjermind, Lena E, MD and Riemenschneider, Matthias, Prof and Mayhaus, Manuel, PhD and Ibach, Bernd, PhD and Gasparoni, Gilles, PhD and Pichler, Sabrina, MSc and Gu, Wei, PhD and Rossor, Martin N, Prof and ... and Lund University and Psychiatry (Lund) and MultiPark: Multidisciplinary research focused on Parkinson´s disease and Psykiatri, Lund and Lunds universitet
Lancet Neurology, The, ISSN 1474-4422, 2014, Volume 13, Issue 7, pp. 686 - 699
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 07/2010, Volume 120, Issue 1, pp. 33 - 41
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 10/2014, Volume 85, Issue 10, pp. e4.162 - e4
BackgroundThe popularity of neurology compared with other medical specialities has declined in recent years, particularly in some parts of the country. Changes... 
Journal Article
Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, 10/2014, Volume 85, Issue 10, p. 050
Journal Article
Neurobiology of Aging: age-related phenomena, neurodegeneration and neuropathology, ISSN 0197-4580, 01/2017
textabstractWe investigated whether progranulin plasma levels are predictors of the presence of progranulin gene (GRN) null mutations or of the development of... 
Journal Article
ISSN 0022-3050, 2018
OBJECTIVE: To determine whether exosomal microRNAs (miRNAs) in cerebrospinal fluid (CSF) of patients with frontotemporal dementia (FTD) can serve as diagnostic... 
Genetic FTD Initiative (GENFI)
Journal Article
Neurobiology of Aging, ISSN 0197-4580, 2009, Volume 30, Issue 4, pp. 656 - 665
Journal Article