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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
Journal Article
by Jansen, W.J and Ossenkoppele, R and Knol, D.L and Tijms, B.M and Scheltens, P.J and Verhey, F.R.J and Visser, P.J and Aalten, P and Aarsland, D and Alcolea, D and Alexander, M and Almdahl, I.S and Arnold, S.E and Baldeiras, I and Barthel, H and Berckel, B.N. van and Bibeau, K and Blennow, K and Brooks, D.J and Buchem, M.A. van and Camus, V and Cavedo, E and Chen, K and Chetelat, G and Cohen, A.D and ezga, A and Engelborghs, S and Fagan, A.M and Fladby, T and Fleisher, A.S and Flier, W.M. van der and Ford, L and Forster, S and Fortea, J and Foskett, N and Frederiksen, K.S and Freund-Levi, Y and Frisoni, G.B and Froelich, L and Gabryelewicz, T and Gill, K.D and Gkatzima, O and Gomez-Tortosa, E and Gordon, M.F and Grimmer, T and Hampel, H and Hausner, L and Hellwig, S and Herukka, S.K and Hildebrandt, H and Ishihara, L and Ivanoiu, A and Jagust, W.J and Johannsen, P and Kandimalla, R and Kapaki, E and Klimkowicz-Mrowiec, A and Klunk, W.E and Kohler, S and Koglin, N and Kornhuber, J and Kramberger, M.G and Laere, K. Van and Landau, S.M and Lee, D.Y and Leon, M and Lisetti, V and Lleo, A and Madsen, K and Maier, W and Marcusson, J and Mattsson, N and Mendonca, A. de and Meulenbroek, O.V and Meyer, P.T and Mintun, M.A and Mok, V and Molinuevo, J.L and Mollergard, H.M and Morris, J.C and Mroczko, B and Mussele, S. Van der and Na, D.L and Newberg, A and Nordberg, A and Nordlund, A and Novak, G.P and Paraskevas, G.P and Parnetti, L and Perera, G and Peters, O and Popp, J and Prabhakar, S and Rabinovici, G.D and Ramakers, I.H and Rami, L and Oliveira, C.R and Rinne, J.O and Roigue, K.M and Roiguez-Roiguez, E and ... and Amyloid Biomarker Study Grp and Amyloid Biomarker Study Group and Sahlgrenska akademin and Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi and Göteborgs universitet and Gothenburg University and Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry and Sahlgrenska Academy
Jama : Journal of the American Medical Association, ISSN 0098-7484, 2015, Volume 313, Issue 19, pp. 1924 - 1938
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 11/2017, Volume 88, Issue 11, pp. 996 - 997
In case II.5, topographic disorientation was also an early feature. Since age 69 she has developed aphasia, and currently (age 77) she is mute, with advanced... 
genotype-phenotype correlations | primary lateral sclerosis | amyotrophic lateral sclerosis | frontotemporal lobar degeneration | TBK1 gene | SURGERY | COHORT | PSYCHIATRY | CLINICAL NEUROLOGY | Amyotrophic lateral sclerosis | Research | Gene mutations | Phosphotransferases | Dementia | Mutation | Kinases | Siblings
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2006, Volume 103, Issue 14, pp. 5573 - 5578
Journal Article
Neurobiology of Aging, ISSN 0197-4580, 04/2019, Volume 76, pp. 214.e11 - 214.e15
Frontotemporal lobar degeneration caused by mutations is mainly associated with a TDP-43 type A proteinopathy. We present a family with autosomal dominant... 
Astrogliopathy | GRN mutations | ARTAG | Tauopathy | Neuropathology | PATHOLOGIES | PATTERNS | PROGRANULIN | NEUROSCIENCES | BRAIN | GERIATRICS & GERONTOLOGY | Proteins | Alzheimer's disease | Genetic aspects
Journal Article
Journal of Alzheimer's Disease, ISSN 1387-2877, 01/2018, Volume 61, Issue 4, pp. 1275 - 1281
The SORL1 gene encodes a protein involved in the amyloidogenic process, and its variants have been associated with Alzheimer’s disease (AD) physiopathology. We... 
Amyloidogenesis | Dementia disorders | Mutation | Neurodegenerative diseases | Alzheimer's disease
Journal Article
ACTA NEUROPATHOLOGICA, ISSN 0001-6322, 09/2017, Volume 134, Issue 3, pp. 475 - 487
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
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
Journal Article