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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
The American Journal of Human Genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 241 - 252
Journal Article
Journal Article
by Masliah, Eliezer and Spillantini, Maria Grazia and Welsh-Bohmer, Kathleen A and Hulette, Christine Marie and Hardy, John and Halliday, Glenda M and Hamilton, Ronald L and Mesulam, Marsel and Kretzschmar, Hans A and Growdon, John H and Alafuzoff, Irina and Wang, Li-San and Seelaar, Harro and Woltjer, Randall L and Cummings, Jeffrey and Ferrer, Isidro and Kumar-Singh, Samir and Rademakers, Rosa and Levey, Allan I and Hartikainen, Päivi and Mackenzie, Ian R A and Woodruff, Bryan K and Lee, Virginia M-Y and Spina, Salvatore and Hodges, John and Schellenberg, Gerard D and DeCarli, Charles and Heutink, Peter and Rohrer, Jonathan D and Mann, David M A and van der Zee, Julie and van Swieten, John C and Grafman, Jordan and al-Sarraj, Safa and Ellis, William G and McKee, Ann C and Riederer, Peter F and Vonsattel, Jean Paul G and Lah, James J and Van Broeckhoven, Christine and Lladó, Albert and Vinters, Harry V and Lieberman, Andrew P and Frosch, Matthew P and Graff-Radford, Neill R and Grossman, Murray and Bogdanovic, Nenad and Trojanowski, John Q and Seilhean, Danielle and Reiman, Eric M and Cairns, Nigel J and Schneider, Julie A and Dickson, Dennis W and Alzualde, Ainhoa and Bennett, David A and Kwok, John B J and Neumann, Manuela and de Munain, Adolfo Lopez and Miller, Carol A and Van Deerlin, Vivianna M and McLean, Catriona Ann and Tuñón, M Teresa and Ghetti, Bernardino and Freeman, Stefanie H and Gilman, Sid and Rosenberg, Roger N and Dekosky, Steven T and Sleiman, Patrick M A and Mayeux, Richard and Gearing, Marla and Cotman, Carl W and Sano, Mary and Martinez-Lage, Maria and Murrell, Jill R and Marson, Daniel and Kaye, Jeffrey A and Martínez, M Cristina Caballero and Pickering-Brown, Stuart M and Kril, Jillian J and Boeve, Bradley F and Arnold, Steven E and Troncoso, Juan C and Munoz, David G and Beach, Thomas G and Ince, Paul G and Miller, Bruce L and Bird, Thomas D and Chen-Plotkin, Alice and Perl, Daniel P and Galasko, Douglas and Troakes, Claire and Lashley, Tammaryn and Shaw, Pamela J and White, Charles L and Bigio, Eileen H and Carroll, Steven L and Morris, John C and Chui, Helena C and Hakonarson, Hakon and Feldman, Howard H and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för genetik och patologi and Uppsala universitet
Nature Genetics, ISSN 1061-4036, 03/2010, Volume 42, Issue 3, pp. 234 - 239
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2012, Volume 11, Issue 1, pp. 54 - 65
Journal Article
by der Zee, Julie and Gijselinck, Ilse and Mossevelde, Sara and Perrone, Federica and Dillen, Lubina and Heeman, Bavo and Bäumer, Veerle and Engelborghs, Sebastiaan and Bleecker, Jan and Baets, Jonathan and Gelpi, Ellen and Rojas‐García, Ricardo and Clarimón, Jordi and Lleó, Alberto and Diehl‐Schmid, Janine and Alexopoulos, Panagiotis and Perneczky, Robert and Synofzik, Matthis and Just, Jennifer and Schöls, Ludger and Graff, Caroline and Thonberg, Håkan and Borroni, Barbara and Padovani, Alessandro and Jordanova, Albena and Sarafov, Stayko and Tournev, Ivailo and Mendonça, Alexandre and Miltenberger‐Miltényi, Gabriel and Simões do Couto, Frederico and Ramirez, Alfredo and Jessen, Frank and Heneka, Michael T and Gómez‐Tortosa, Estrella and Danek, Adrian and Cras, Patrick and Vandenberghe, Rik and Jonghe, Peter and Deyn, Peter P and Sleegers, Kristel and Cruts, Marc and Broeckhoven, Christine and Goeman, Johan and Nuytten, Dirk and Smets, Katrien and Robberecht, Wim and Damme, Philip Van and Bleecker, Jan De and Santens, Patrick and Dermaut, Bart and Versijpt, Jan and Michotte, Alex and Ivanoiu, Adrian and Deryck, Olivier and Bergmans, Bruno and Delbeck, Jean and Bruyland, Marc and Willems, Christiana and Salmon, Eric and Pastor, Pau and Ortega‐Cubero, Sara and Benussi, Luisa and Ghidoni, Roberta and Binetti, Giuliano and Hernández, Isabel and Boada, Mercè and Ruiz, Agustín and Sorbi, Sandro and Nacmias, Benedetta and Bagnoli, Silvia and Sorbi, Sandro and Sanchez‐Valle, Raquel and Llado, Albert and Santana, Isabel and Rosário Almeida, Maria and Frisoni, Giovanni B and Maetzler, Walter and Matej, Radoslav and Fraidakis, Matthew J and Kovacs, Gabor G and Fabrizi, Gian Maria and Testi, Silvia and Belgian Neurology Consortium and European Early-Onset Dementia Cons
Human Mutation, ISSN 1059-7794, 03/2017, Volume 38, Issue 3, pp. 297 - 309
We investigated the mutation spectrum of the TANK‐Binding Kinase 1 ( TBK1 ) gene and its associated phenotypic spectrum by exonic resequencing of TBK1 in a... 
TANK‐Binding Kinase 1 | TBK1 | mutations | FTD | ALS | frontotemporal dementia | amyotrophic lateral sclerosis | NFκB luciferase reporter assay | TANK-Binding Kinase 1 | REPEAT EXPANSION | LOBAR DEGENERATION | C9ORF72 | FAMILIAL ALS | BELGIAN COHORT | NFkB luciferase reporter assay | TDP-43 | DISEASE | GENETICS & HEREDITY | ARGYROPHILIC GRAINS | DIAGNOSTIC-CRITERIA | HEXANUCLEOTIDE REPEAT | Sequence Deletion | Humans | Middle Aged | Amyotrophic Lateral Sclerosis - diagnosis | Male | NF-kappa B - metabolism | Case-Control Studies | Female | Protein-Serine-Threonine Kinases - metabolism | Frontotemporal Dementia - genetics | European Continental Ancestry Group - genetics | Genetic Association Studies | Amyotrophic Lateral Sclerosis - genetics | Protein-Serine-Threonine Kinases - genetics | Frontotemporal Dementia - diagnosis | Phenotype | Alleles | Heterozygote | Aged | Enzyme Activation | Mutation | Frontotemporal Dementia - epidemiology | Amino Acid Substitution | Amyotrophic Lateral Sclerosis - epidemiology | Cohort Studies | RNA | Analysis | Luciferase | Amino acids | Amyotrophic lateral sclerosis | Genetic aspects | Dementia | Proteins | Transcription | Risk groups | mRNA turnover | Nonsense-mediated mRNA decay | Sclerosis | Pathogenicity | Missense mutation | Dementia disorders | Frontotemporal dementia | Age | Index Medicus
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 6/2014, Volume 127, Issue 6, pp. 845 - 860
Journal Article
Journal Article