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by Bustin, Stephen A and Benes, Vladimir and Garson, Jeremy and Hellemans, Jan and Huggett, Jim and Kubista, Mikael and Mueller, Reinhold and Nolan, Tania and Pfaffl, Michael W and Shipley, Gregory and Wittwer, Carl T and Schjerling, Peter and Day, Philip J and Abreu, Mónica and Aguado, Begoña and Beaulieu, Jean-François and Beckers, Anneleen and Bogaert, Sara and Browne, John A and Carrasco-Ramiro, Fernando and Ceelen, Liesbeth and Ciborowski, Kate and Cornillie, Pieter and Coulon, Stephanie and Cuypers, Ann and De Brouwer, Sara and De Ceuninck, Leentje and De Craene, Jurgen and De Naeyer, Hélène and De Spiegelaere, Ward and Deckers, Kato and Dheedene, Annelies and Durinck, Kaat and Ferreira-Teixeira, Margarida and Fieuw, Annelies and Gallup, Jack M and Gonzalo-Flores, Sandra and Goossens, Karen and Heindryckx, Femke and Herring, Elizabeth and Hoenicka, Hans and Icardi, Laura and Jaggi, Rolf and Javad, Farzad and Karampelias, Michael and Kibenge, Frederick and Kibenge, Molly and Kumps, Candy and Lambertz, Irina and Lammens, Tim and Markey, Amelia and Messiaen, Peter and Mets, Evelien and Morais, Sofia and Mudarra-Rubio, Alberto and Nakiwala, Justine and Nelis, Hilde and Olsvik, Pal A and Pérez-Novo, Claudina and Plusquin, Michelle and Remans, Tony and Rihani, Ali and Rodrigues-Santos, Paulo and Rondou, Pieter and Sanders, Rebecca and Schmidt-Bleek, Katharina and Skovgaard, Kerstin and Smeets, Karen and Tabera, Laura and Toegel, Stefan and Van Acker, Tim and Van Den Broeck, Wim and Van Der Meulen, Joni and Van Gele, Mireille and Van Peer, Gert and Van Poucke, Mario and Van Roy, Nadine and Vergult, Sarah and Wauman, Joris and Tshuikina-Wiklander, Marina and Willems, Erik and Zaccara, Sara and Zeka, Fjoralba and Vandesompele, Jo and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för medicinsk biokemi och mikrobiologi and Uppsala universitet
Nature Methods, ISSN 1548-7091, 11/2013, Volume 10, Issue 11, pp. 1063 - 1067
Journal Article
by Fall, Magnus and Hägg, Sara and Mägi, Reedik and Ploner, Alexander and Fischer, Krista and Horikoshi, Momoko and Sarin, A.-P and Thorleifsson, Gudmar and Ladenvall, Claes and Kals, Mart and Kuningas, Maris and isma, Gerrit and Ried, Janina and Zuydam, Natalie and Huikari, Ville and Mangino, Massimo and Sonestedt, Emily and Benyamin, Beben and Nelson, Christopher P and Rivera, Natalia and Kristiansson, Kati and Shen, Huei-yi and Havulinna, Aki and Dehghan, Abbas and Donnelly, Louise and Kaakinen, Marika and Nuotio, Marja-Liisa and Robertson, Neil and Bruijn, Renée and Ikram, Arfan and Amin, Najaf and Balmforth, Anthony and Braund, Peter and Doney, Alex and Döring, Angela and Elliott, Paul and Esko, Tõnu and Franco, Oscar and Gretarsdottir, Solveig and Hartikainen, A.L and Heikkilä, Kauko and Herzig, K.H and Holm, Hilma and Hottenga, Jouke Jan and Hyppönen, Elina and Illig, Thomas and Isaacs, Aaron and Isomaa, Bo and Karssen, Lennart and Kettunen, Johannes and Koenig, Wolfgang and Kuulasmaa, Kari and Laatikainen, Tiina and Laitinen, Jaana and Lindgren, Cecilia and Lyssenko, Valeriya and Läärä, Esa and Rayner, Nigel William and Männistö, Satu and Pouta, Anneli and Rathmann, Wolfgang and Rivadeneira Ramirez, Fernando and Ruokonen, Aimo and Savolainen, Markku and Sijbrands, Eric and Small, Kerrin and Smit, Jan and Steinthorsdottir, Valgerdur and Syvanen, A.C and Taanila, Anja and Tobin, Martin and Uitterlinden, Ané and Willems, Sara and Willemsen, Gonneke and Witteman, Jacqueline and Perola, Markus and Evans, Anew and Ferrières, Jean and Virtamo, Jarmo and Kee, F and Tregouet, David-Alexane and Arveiler, Dominique and Amouyel, Philippe and Ferrario, Franco and Brambilla, Paolo and Hall, Anne and Heath, Anew and Madden, Pamela and Martin, Nicholas and Montgomery, Grant and Whitfield, John and Jula, Antti and Knekt, P and Oostra, Ben and Duijn, Cornelia and Penninx, Brenda and Davey-Smith, George and Kaprio, Jaakko and Samani, Nilesh and Gieger, Christian and ... and ENGAGE Consortium and European Network for Genetic and Genomic Epidemiology (ENGAGE) consortium and for the European Network for Genetic and Genomic Epidemiology (ENGAGE) consortium and Medicinska fakulteten and Science for Life Laboratory, SciLifeLab and Medicinska och farmaceutiska vetenskapsområdet and Molekylär medicin and Kardiovaskulär epidemiologi and Uppsala universitet and Institutionen för medicinska vetenskaper
PLoS Medicine, ISSN 1549-1277, 06/2013, Volume 10, Issue 6, pp. e1001474 - e1001474
Journal Article
by Horikoshi, Momoko and Mӓgi, Reedik and Bunt, Martijn and Surakka, Ida and Sarin, A.-P and Mahajan, Anubha and Marullo, Letizia and Thorleifsson, Gudmar and Hӓgg, Sara and Hottenga, Jouke Jan and Ladenvall, Claes and Ried, Janina and Winkler, Thomas W and Willems, Sara and Pervjakova, Natalia and Esko, Tõnu and Beekman, Marian and Nelson, Christopher P and Willenborg, Christina and Wiltshire, Steven and Ferreira, Teresa and Fernandez, Juan and Gaulton, Kyle and Steinthorsdottir, Valgerdur and Hamsten, Anders and Magnusson, Patrik K. E and Willemsen, Gonneke and Milaneschi, Yuri and Robertson, Neil R and Groves, Christopher and Bennett, Amanda and Lehtimӓki, Terho and Viikari, Jorma and Rung, Johan and Lyssenko, Valeriya and Perola, Markus and Heid, Iris and Herder, Christian and Grallert, Harald and Müller-Nurasyid, Martina and Roden, Michael and Hypponen, Elina and Isaacs, Aaron and Leeuwen, Elisa and Karssen, Lennart and Mihailov, Evelin and Houwing-Duistermaat, Jeanine and De Craen, Anton J. M and Deelen, Joris and Havulinna, Aki and Blades, Matthew and Hengstenberg, Christian and Erdmann, Jeanette and Schunkert, Heribert and Kaprio, Jaakko and Tobin, Martin and Samani, Nilesh and Lind, Lars and Salomaa, Veikko and Lindgren, Cecilia M and Slagboom, Eline and Metspalu, Anes and Duijn, Cornelia and Eriksson, Johan G and Peters, Annette and Gieger, Christian and Jula, Antti and Groop, Leif and Raitakari, Olli T and Power, Christopher and Penninx, Brenda and Geus, Eco and Smit, Johannes H and Boomsma, Dorret and Pedersen, Nancy L and Ingelsson, Erik and Thorsteinsdottir, Unnur and Zwart, John-Anker and Ripatti, Samuli and Prokopenko, Inga and McCarthy, Mark and Morris, Anew and Engage Consortium and ENGAGE Consortium and Medicinska fakulteten and Science for Life Laboratory, SciLifeLab and Medicinska och farmaceutiska vetenskapsområdet and Kardiovaskulär epidemiologi and Uppsala universitet and Institutionen för medicinska vetenskaper and Molekylär epidemiologi
PL o S Genetics (Online), ISSN 1553-7390, 01/2015, Volume 11, Issue 7, pp. e1005230 - e1005230
Journal Article
by Surakka, Ida and Horikoshi, Momoko and Mägi, Reedik and Sarin, A.-P and Mahajan, Anubha and Lagou, Vasiliki and Marullo, Letizia and Ferreira, Teresa and Miraglio, Benjamin and Timonen, Sanna and Kettunen, Johannes and Pirinen, Matti and Karjalainen, Juha and Thorleifsson, Gudmar and Hägg, Sara and Hottenga, Jouke Jan and Isaacs, Aaron and Ladenvall, Claes and Beekman, Marian and Esko, Tõnu and Ried, Janina and Nelson, Christopher P and Willenborg, Christina and Gustafsson, Stefan and Westra, Harm-Jan and Blades, Matthew and De Craen, Anton J. M and Geus, Eco and Deelen, Joris and Grallert, Harald and Hamsten, Anders and Havulinna, Aki and Hengstenberg, Christian and Houwing-Duistermaat, Jeanine and Hypponen, Elina and Karssen, Lennart and Lehtimäki, Terho and Lyssenko, Valeriya and Magnusson, Patrik and Mihailov, Evelin and Müller-Nurasyid, Martina and Mpindi, John-Patrick and Pedersen, Nancy L and Penninx, Brenda and Perola, Markus and Pers, Tune and Peters, Annette and Rung, Johan and Smit, Johannes H and Steinthorsdottir, Valgerdur and Tobin, Martin and Tsernikova, Natalia and Leeuwen, Elisa and Viikari, Jorma and Willems, Sara and Willemsen, Gonneke and Schunkert, Heribert and Erdmann, Jeanette and Samani, Nilesh and Kaprio, Jaakko and Lind, Lars and Gieger, Christian and Metspalu, Anes and Eline Slagboom, P and Groop, Leif and Duijn, Cock and Eriksson, Johan G and Jula, Antti and Salomaa, Veikko and Boomsma, Dorret and Power, Christopher and Raitakari, Olli T and Ingelsson, Erik and Jarvelin, Marjo-Riitta and Thorsteinsdottir, Unnur and Franke, Lude and Ikonen, Elina and Kallioniemi, Olli and Pietiäinen, Vilja and Lindgren, Cecilia M and Zwart, John-Anker and Palotie, Aarno and McCarthy, Mark and Morris, Anew and Prokopenko, Inga and Ripatti, Samuli and ENGAGE Consortium and Medicinska fakulteten and Science for Life Laboratory, SciLifeLab and Medicinska och farmaceutiska vetenskapsområdet and Kardiovaskulär epidemiologi and Uppsala universitet and Institutionen för medicinska vetenskaper and Molekylär epidemiologi
Nature Genetics, ISSN 1061-4036, 01/2015, Volume 47, Issue 6, pp. 589 - 597
Journal Article
by Fall, Magnus and Hägg, Sara and Ploner, Alexander and Mägi, Reedik and Fischer, Krista and isma, Gerrit and Sarin, A.-P and Benyamin, Beben and Ladenvall, Claes and Åkerlund, Mikael and Kals, Mart and Esko, Tõnu and Nelson, Christopher P and Kaakinen, Marika and Huikari, Ville and Mangino, Massimo and Meirhaeghe, Aline and Kristiansson, Kati and Nuotio, Marja-Liisa and Kobl, Michael and Grallert, Harald and Dehghan, Abbas and Kuningas, Maris and Vries, Paul and Bruijn, Renée and Willems, Sara and Heikkilä, Kauko and Silventoinen, Karri and Pietilainen, Kirsi Hannele and Legry, Vanessa and Gieaitis, Vilmantas and Goumidi, Louisa and Syvanen, A.C and Strauch, Konstantin and Koenig, Wolfgang and Lichtner, Peter and Herder, Christian and Palotie, Aarno and Menni, Cristina and Uitterlinden, Ané and Kuulasmaa, Kari and Havulinna, Aki and Moreno, Luis and Gonzalez-Gross, Marcela and Evans, Alun and Tregouet, David-Alexane and Yarnell, John W and Virtamo, Jarmo and Ferrieres, Jean and Veronesi, Giovanni and Perola, Markus and Arveiler, Dominique and Brambilla, Paolo and Lind, Lars and Kaprio, Jaakko and Hofman, Albert and Stricker, Bruno and Duijn, Cornelia and Ikram, Arfan and Franco, Oscar and Cottel, Dominique and Dallongeville, J and Hall, Alistair and Jula, Antti and Tobin, Martin and Penninx, Brenda and Peters, Annette and Gieger, Christian and Samani, Nilesh and Montgomery, Grant and Whitfield, John and Martin, Nicholas and Groop, Leif and Spector, Timothy and Magnusson, Patrik and Amouyel, Philippe and Boomsma, Dorret and Nilsson, Peter and Jarvelin, Marjo-Riitta and Lyssenko, Valeriya and Metspalu, Anes and Strachan, David and Salomaa, Veikko and Ripatti, Samuli and Pedersen, Nancy and Prokopenko, Inga and McCarthy, Mark and Ingelsson, Erik and ENGAGE Consortium and Medicinska fakulteten and Science for Life Laboratory, SciLifeLab and Medicinska och farmaceutiska vetenskapsområdet and Molekylär medicin and Geriatrik and Kardiovaskulär epidemiologi and Uppsala universitet and Institutionen för medicinska vetenskaper and Molekylär epidemiologi and Institutionen för folkhälso- och vårdvetenskap
Diabetes, ISSN 1939-327X, 05/2015, Volume 64, Issue 5, pp. 1841 - 1852
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
JAMA, ISSN 0098-7484, 10/2016, Volume 316, Issue 13, pp. 1383 - 1391
Journal Article
by Wessel, Jennifer and Chu, Auey Y and Willems, Sara and Wang, Shuai and Yaghootkar, Hanieh and Brody, Jennifer and Dauriz, Marco and Hivert, Marie-France and Raghavan, Sridharan and Lipovich, Leonard and Hidalgo, Bertha and Fox, Keolu and Huffman, Jennifer and An, Ping and Lu, Yingchang and Rasmussen-Torvik, Laura and Grarup, Niels and Ehm, Margaret G and Li, Li and Balidge, Abigail S and Stancáková, Alena and Abrol, Ravinder and Besse, Céline and Boland, Anne and Bork-Jensen, Jette and Fornage, Myriam and Freitag, Christine and Garcia, Melissa and Guo, Xiuqing and Hara, Kazuo and Isaacs, Aaron and Jakobsdottir, Margret and Lange, Leslie and Layton, Jill C and Li, Man and Zhao, Jing Hua and Meidtner, Karina and Morrison, Alanna and Nalls, Michael and Peters, Marjolein and Sabater-Lleal, Maria and Schurmann, Claudia and Silveira, Angela and Smith, G.D and Southam, Lorraine and Stoiber, Marcus H and Strawbridge, Rona and Taylor, Kent and Varga, Tibor V and Allin, Kristine H and Amin, Najaf and Aponte, Jennifer L and Aung, Tin and Barbieri, Caterina and Bihlmeyer, Nathan A and Boehnke, Michael and Bombieri, Cristina and Bowden, Donald and Burns, Sean M and Chen, Yuning and Chen, Yii-Deri and Cheng, Ching-Yu and Correa, D.D and Czajkowski, Jacek and Dehghan, Abbas and Ehret, Georg and Eiriksdottir, Gudny and Escher, Stefan A and Farmaki, Aliki-Eleni and Frånberg, Mattias and Gambaro, Giovanni and Giulianini, Franco and Goddard, William A and Goel, Anuj and Gottesman, Rebecca and Grove, Megan and Gustafsson, Stefan and Hai, Yang and Hallmans, Göran and Heo, Jiyoung and Hoffmann, Per and Ikram, Kamran and Jensen, Richard and Jørgensen, Marit and Jorgensen, Torben and Karaleftheri, Maria and Khor, C.C and Kirkpatrick, Anea and Kraja, Aldi and Kuusisto, Johanna and Lange, Ethan and Lee, I.T and Lee, Wen-Jane and Leong, Aaron and Liao, Jie and Liu, Chunyu and Liu, Yongmei and Lindgren, Cecilia and Linneberg, Allan and Malerba, Giovanni and ... and The EPIC-InterAct Consortium and EPIC-InterAct Consortium and Numerisk analys och datalogi (NADA) and Naturvetenskapliga fakulteten and Stockholms universitet and Science for Life Laboratory (SciLifeLab)
Nature Communications, ISSN 2041-1723, 01/2015, Volume 6, Issue 1, pp. 5897 - 5897
Journal Article