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by van der Zee, Julie and Gijselinck, Ilse and Dillen, Lubina and Van Langenhove, Tim and Theuns, Jessie and Engelborghs, Sebastiaan and Philtjens, Stéphanie and Vandenbulcke, Mathieu and Sleegers, Kristel and Sieben, Anne and Bäumer, Veerle and Maes, Githa and Corsmit, Ellen and Borroni, Barbara and Padovani, Alessandro and Archetti, Silvana and Perneczky, Robert and Diehl‐Schmid, Janine and de Mendonça, Alexandre and Miltenberger‐Miltenyi, Gabriel and Pereira, Sónia and Pimentel, José and Nacmias, Benedetta and Bagnoli, Silvia and Sorbi, Sandro and Graff, Caroline and Chiang, Huei‐Hsin and Westerlund, Marie and Sanchez‐Valle, Raquel and Llado, Albert and Gelpi, Ellen and Santana, Isabel and Almeida, Maria Rosário and Santiago, Beatriz and Frisoni, Giovanni and Zanetti, Orazio and Bonvicini, Cristian and Synofzik, Matthis and Maetzler, Walter and vom Hagen, Jennifer Müller and Schöls, Ludger and Heneka, Michael T and Jessen, Frank and Matej, Radoslav and Parobkova, Eva and Kovacs, Gabor G and Ströbel, Thomas and Sarafov, Stayko and Tournev, Ivailo and Jordanova, Albena and Danek, Adrian and Arzberger, Thomas and Fabrizi, Gian Maria and Testi, Silvia and Salmon, Eric and Santens, Patrick and Martin, Jean‐Jacques and Cras, Patrick and Vandenberghe, Rik and De Deyn, Peter Paul and Cruts, Marc and Van Broeckhoven, Christine and van der Zee, Julie and Gijselinck, Ilse and Dillen, Lubina and Van Langenhove, Tim and Theuns, Jessie and Philtjens, Stéphanie and Sleegers, Kristel and Bäumer, Veerle and Maes, Githa and Corsmit, Ellen and Cruts, Marc and Van Broeckhoven, Christine and van der Zee, Julie and Gijselinck, Ilse and Dillen, Lubina and Van Langenhove, Tim and Philtjens, Stéphanie and Theuns, Jessie and Sleegers, Kristel and Bäumer, Veerle and Maes, Githa and Cruts, Marc and Van Broeckhoven, Christine and Engelborghs, Sebastiaan and De Deyn, Peter P and Cras, Patrick and Engelborghs, Sebastiaan and De Deyn, Peter P and Vandenbulcke, Mathieu and Vandenbulcke, Mathieu and Borroni, Barbara and Padovani, Alessandro and Archetti, Silvana and Perneczky, Robert and Diehl‐Schmid, Janine and Synofzik, Matthis and Maetzler, Walter and Müller vom Hagen, Jennifer and ... and European Early-Onset Dementia EOD and European Early-Onset Dementia Consortium
Human Mutation, ISSN 1059-7794, 02/2013, Volume 34, Issue 2, pp. 363 - 373
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
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
EMBO Molecular Medicine, ISSN 1757-4676, 07/2017, Volume 9, Issue 7, pp. 859 - 868
Journal Article
Journal Article