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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, 6/2019, Volume 137, Issue 6, pp. 901 - 918
Journal Article
Brain, ISSN 0006-8950, 02/2016, Volume 139, Issue 2, pp. 452 - 467
Journal Article
Journal Article
JAMA Neurology, ISSN 2168-6149, 03/2013, Volume 70, Issue 3, pp. 365 - 373
Journal Article
Journal Article
Neurobiology of Aging, ISSN 0197-4580, 07/2018, Volume 67, pp. 84 - 94
Journal Article
Neurobiology of Aging, ISSN 0197-4580, 06/2018, Volume 66, pp. 181.e3 - 181.e10
We investigated the genetic role of sortilin ( ) in frontotemporal dementia (FTD). SORT1 is the neuronal receptor for granulin, encoded by the progranulin gene... 
Granulin | Frontotemporal dementia | Genetic association | Sortilin | Rare variants | LOBAR DEGENERATION | AMYOTROPHIC-LATERAL-SCLEROSIS | C9ORF72 | NEUROSCIENCES | GERIATRICS & GERONTOLOGY | BELGIAN COHORT | PLASMA | PROGRANULIN LEVELS | MUTATIONS | DIAGNOSTIC-CRITERIA | HEXANUCLEOTIDE REPEAT | Risk factors | Dementia | Index Medicus
Journal Article
Neurobiology of Aging, ISSN 0197-4580, 09/2018, Volume 69, pp. 293.e9 - 293.e11
Journal Article
Neurobiology of Aging, ISSN 0197-4580, 02/2018, Volume 62, pp. 245.e1 - 245.e7
TANK-binding kinase 1 (TBK1) loss-of-function (LoF) mutations are known to cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), often... 
RNA sequencing | Loss-of-function | Early onset Alzheimer's disease | TBK1 | Frontotemporal dementia | BELGIAN COHORT | IMMUNITY | AMYOTROPHIC-LATERAL-SCLEROSIS | BINDING KINASE 1 | MUTATIONS | NEUROSCIENCES | GERIATRICS & GERONTOLOGY | Alzheimer's disease | Index Medicus
Journal Article