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PLoS ONE, ISSN 1932-6203, 02/2014, Volume 9, Issue 2, p. e89741
Journal Article
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
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 2/2013, Volume 125, Issue 2, pp. 201 - 213
Autosomal-dominant Alzheimer disease (ADAD) is a genetic disorder caused by mutations in Amyloid Precursor Protein (APP) or Presenilin (PSEN) genes. Studies... 
Pathology | Neurosciences | Autosomal-dominant Alzheimer disease | Medicine & Public Health | β -Site APP-cleaving enzyme | Presenilin | β -Amyloid | Amyloid precursor protein | β-Amyloid | β-Site APP-cleaving enzyme | BETA-SECRETASE ACTIVITY | PATHOLOGY | CEREBROSPINAL-FLUID | NEUROSCIENCES | CEREBRAL-CORTEX | CLINICAL NEUROLOGY | SENILE PLAQUES | PRESENILIN-1 MUTATIONS | beta-Site APP-cleaving enzyme | BRAIN INTERSTITIAL FLUID | IN-VIVO | beta-Amyloid | EXPRESSION | TRANSGENIC MICE | Immunohistochemistry | Central Nervous System - metabolism | Humans | Middle Aged | Male | Apolipoproteins E - metabolism | Amyloid beta-Protein Precursor - cerebrospinal fluid | Amyloid beta-Protein Precursor - metabolism | Adult | Female | Presenilin-1 - cerebrospinal fluid | Presenilin-1 - genetics | Alzheimer Disease - cerebrospinal fluid | Mutation - genetics | Amyloid Precursor Protein Secretases - cerebrospinal fluid | Blotting, Western | Neurites - pathology | Amyloid Precursor Protein Secretases - metabolism | Aspartic Acid Endopeptidases - cerebrospinal fluid | Apolipoproteins E - genetics | Aspartic Acid Endopeptidases - metabolism | Alzheimer Disease - metabolism | Heterozygote | Aged | Alzheimer Disease - genetics | Physiological aspects | Enzymes | Alzheimer's disease | Amyloid beta-protein | Brain | Neurodegenerative diseases | BACE protein | Central nervous system | Clinical trials | Data processing | beta -Amyloid | Cerebrospinal fluid | beta -Site APP cleaving enzyme | Amyloid | Mutation | Original Paper
Journal Article
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 Pottier, Cyril and Zhou, Xiaolai and Perkerson, Ralph B and Baker, Matt and Jenkins, Gregory D and Serie, Daniel J and Ghidoni, Roberta and Benussi, Luisa and Binetti, Giuliano and López de Munain, Adolfo and Zulaica, Miren and Moreno, Fermin and Le Ber, Isabelle and Pasquier, Florence and Hannequin, Didier and Sánchez-Valle, Raquel and Antonell, Anna and Lladó, Albert and Parsons, Tammee M and Finch, NiCole A and Finger, Elizabeth C and Lippa, Carol F and Huey, Edward D and Neumann, Manuela and Heutink, Peter and Synofzik, Matthis and Wilke, Carlo and Rissman, Robert A and Slawek, Jaroslaw and Sitek, Emilia and Johannsen, Peter and Nielsen, Jørgen E and Ren, Yingxue and van Blitterswijk, Marka and DeJesus-Hernandez, Mariely and Christopher, Elizabeth and Murray, Melissa E and Bieniek, Kevin F and Evers, Bret M and Ferrari, Raffaele and Ferrari, Camilla and Rollinson, Sara and Richardson, Anna and Scarpini, Elio and Fumagalli, Giorgio G and Padovani, Alessandro and Hardy, John and Momeni, Parastoo and Frangipane, Francesca and Maletta, Raffaele and Anfossi, Maria and Gallo, Maura and Petrucelli, Leonard and Suh, EunRan and Lopez, Oscar L and Wong, Tsz H and van Rooij, Jeroen G J and Seelaar, Harro and Mead, Simon and Caselli, Richard J and Reiman, Eric M and Noel Sabbagh, Marwan and Kjolby, Mads and Nykjaer, Anders and Karydas, Anna M and Boxer, Adam L and Grinberg, Lea T and Grafman, Jordan and Spina, Salvatore and Oblak, Adrian and Mesulam, M-Marsel and Weintraub, Sandra and Geula, Changiz and Hodges, John R and Piguet, Olivier and Brooks, William S and Irwin, David J and Trojanowski, John Q and Lee, Edward B and Josephs, Keith A and Parisi, Joseph E and Ertekin-Taner, Nilüfer and Knopman, David S and Nacmias, Benedetta and Piaceri, Irene and Bagnoli, Silvia and Sorbi, Sandro and Gearing, Marla and Glass, Jonathan and Beach, Thomas G and Black, Sandra E and Masellis, Mario and Rogaeva, Ekaterina and Vonsattel, Jean-Paul and Honig, Lawrence S and Kofler, Julia and Bruni, Amalia C and Snowden, Julie and Mann, David and Pickering-Brown, Stuart and ...
The Lancet Neurology, ISSN 1474-4422, 06/2018, Volume 17, Issue 6, pp. 548 - 558
Loss-of-function mutations in cause frontotemporal lobar degeneration (FTLD). Patients with mutations present with a uniform subtype of TAR DNA-binding protein... 
GDNF FAMILY | PROTEIN-LEVELS | DEMENTIA | THERAPY | PLASMA | TMEM106B | COMMON | AMYOTROPHIC-LATERAL-SCLEROSIS | CLINICAL NEUROLOGY | PARKINSONS-DISEASE | Genetic research | Physiological aspects | Genetic aspects | Genomics | Aging | Mutation
Journal Article
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, ISSN 1552-5260, 06/2018, Volume 14, Issue 6, pp. 751 - 763
Journal Article
EMBO Molecular Medicine, ISSN 1757-4676, 05/2016, Volume 8, Issue 5, pp. 466 - 476
Journal Article