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by Cruchaga, Carlos and Karch, Celeste M and Jin, Sheng Chih and Benitez, Bruno A and Cai, Yefei and Guerreiro, Rita and Harari, Oscar and Norton, Joanne and Budde, John and Bertelsen, Sarah and Jeng, Amanda T and Cooper, Breanna and Skorupa, Tara and Carrell, David and Levitch, Denise and Hsu, Simon and Choi, Jiyoon and Ryten, Mina and Hardy, John and Trabzuni, Daniah and Weale, Michael E and Ramasamy, Adaikalavan and Smith, Colin and Sassi, Celeste and Bras, Jose and Gibbs, J. Raphael and Hernandez, Dena G and Lupton, Michelle K and Powell, John and Forabosco, Paola and Ridge, Perry G and Corcoran, Christopher D and Tschanz, Joann T and Norton, Maria C and Munger, Ronald G and Schmutz, Cameron and Leary, Maegan and Demirci, F. Yesim and Bamne, Mikhil N and Wang, Xingbin and Lopez, Oscar L and Ganguli, Mary and Medway, Christopher and Turton, James and Lord, Jenny and Braae, Anne and Barber, Imelda and Brown, Kristelle and Passmore, Peter and Craig, David and Johnston, Janet and McGuinness, Bernadette and Todd, Stephen and Heun, Reinhard and Kölsch, Heike and Kehoe, Patrick G and Hooper, Nigel M and Vardy, Emma R.L.C and Mann, David M and Pickering-Brown, Stuart and Kalsheker, Noor and Lowe, James and Morgan, Kevin and David Smith, A and Wilcock, Gordon and Warden, Donald and Holmes, Clive and Pastor, Pau and Lorenzo-Betancor, Oswaldo and Brkanac, Zoran and Scott, Erick and Topol, Eric and Rogaeva, Ekaterina and Singleton, Andrew B and Kamboh, M. Ilyas and St George-Hyslop, Peter and Cairns, Nigel and Morris, John C and Kauwe, John S. K and Goate, Alison M and Alzheimers Res UK ARUK Consortium and UKBEC and Alzheimer's Research UK (ARUK) Consortium
Nature, ISSN 0028-0836, 2014, Volume 505, Issue 7484, pp. 550 - 554
Journal Article
Alzheimer's Research & Therapy, ISSN 1758-9193, 12/2018, Volume 10, Issue 1, pp. 1 - 8
Background: Alzheimer’s disease (AD) is a neurodegenerative disease that is clinically characterized by progressive cognitive decline. Mutations in amyloid-β... 
Proteins | Genetic counseling | Algorithms | Medical imaging | Nuclear magnetic resonance--NMR | Mutagenesis | Cloning | Mutation | Alzheimers disease | Deoxyribonucleic acid--DNA | PSEN2 | Pathogenicity algorithm | APP | Autosomal dominant Alzheimer’s disease | PSEN1 | Cell-based assays
Journal Article
Neurobiology of Aging, ISSN 0197-4580, 12/2016, Volume 48, pp. 222.e9 - 222.e15
Journal Article
Journal Article
Neurology, ISSN 0028-3878, 05/2012, Volume 78, Issue 19, pp. 1464 - 1471
Journal Article
Neurobiology of Aging, ISSN 0197-4580, 2016, Volume 48, pp. 222.e9 - 222.e15
Abstract We aimed to identify new candidate genes potentially involved in early onset Alzheimer’s disease (EOAD). Exome sequencing was conducted on 45 EOAD... 
Neurology | Internal Medicine | exome sequencing | TREM2 | TYROBP | burden test | Alzheimer’s disease
Journal Article
Alzheimer's Research and Therapy, ISSN 1758-9193, 07/2018, Volume 10, Issue 1, pp. 67 - 67
Background: Alzheimer's disease (AD) is a neurodegenerative disease that is clinically characterized by progressive cognitive decline. Mutations in... 
Pathogenicity algorithm | PSEN2 | APP | PSEN1 | Autosomal dominant Alzheimer's disease | Cell-based assays | PLAQUES | NEUROSCIENCES | BRAIN | CLINICAL NEUROLOGY | PRESENILIN-1 | Genetic aspects | Research | Gene mutations | Presenilins | Alzheimer's disease | Amyloid beta-protein
Journal Article
Journal Article
Journal Article
American journal of neurodegenerative disease, ISSN 2165-591X, 2016, Volume 5, Issue 1, pp. 94 - 101
Mutations in the gene encoding the presenilin-1 protein (PSEN1) were first discovered to cause Alzheimer's disease (AD) 20 years ago. Since then more than 200... 
Journal Article
Journal Article