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A nonsynonymous mut...
A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity
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van der Lee, S. J. (author)
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Conway, O. J. (author)
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Jansen, I. (author)
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show more...
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Carrasquillo, M. M. (author)
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Kleineidam, L. (author)
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van den Akker, E. (author)
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Hernandez, I. (author)
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van Eijk, K. R. (author)
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Stringa, N. (author)
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Chen, J. A. (author)
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- Zettergren, Anna, 1978 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi,Centrum för åldrande och hälsa (AgeCap),Institute of Neuroscience and Physiology,Centre for Ageing and Health (Agecap)
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Andlauer, T. F. M. (author)
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Diez-Fairen, M. (author)
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Simon-Sanchez, J. (author)
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Lleo, A. (author)
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Zetterberg, H. (author)
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Nygaard, M. (author)
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Blauwendraat, C. (author)
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Savage, J. E. (author)
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Mengel-From, J. (author)
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Moreno-Grau, S. (author)
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Wagner, M. (author)
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Fortea, J. (author)
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Keogh, M. J. (author)
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- Blennow, Kaj, 1958 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi,Institute of Neuroscience and Physiology
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Skoog, I. (author)
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Friese, M. A. (author)
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Pletnikova, O. (author)
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Zulaica, M. (author)
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Lage, C. (author)
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de Rojas, I. (author)
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Riedel-Heller, S. (author)
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Illan-Gala, I. (author)
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Wei, W. (author)
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Jeune, B. (author)
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Orellana, A. (author)
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Bergh, F. T. (author)
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Wang, X. (author)
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Hulsman, M. (author)
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Beker, N. (author)
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Tesi, N. (author)
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Morris, C. M. (author)
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Indakoetxea, B. (author)
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Collij, L. E. (author)
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Scherer, M. (author)
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Morenas-Rodriguez, E. (author)
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Ironside, J. W. (author)
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van Berckel, B. N. M. (author)
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Alcolea, D. (author)
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Wiendl, H. (author)
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Strickland, S. L. (author)
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Pastor, P. (author)
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Rodriguez Rodriguez, E. (author)
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Boeve, B. F. (author)
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Petersen, R. C. (author)
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Ferman, T. J. (author)
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van Gerpen, J. A. (author)
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Reinders, M. J. T. (author)
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Uitti, R. J. (author)
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Tarraga, L. (author)
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Maier, W. (author)
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Dols-Icardo, O. (author)
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Kawalia, A. (author)
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Dalmasso, M. C. (author)
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Boada, M. (author)
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Zettl, U. K. (author)
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van Schoor, N. M. (author)
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Beekman, M. (author)
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Allen, M. (author)
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Masliah, E. (author)
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de Munain, A. L. (author)
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Pantelyat, A. (author)
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Wszolek, Z. K. (author)
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Ross, O. A. (author)
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Dickson, D. W. (author)
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Graff-Radford, N. R. (author)
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Knopman, D. (author)
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Rademakers, R. (author)
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Lemstra, A. W. (author)
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Pijnenburg, Y. A. L. (author)
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Scheltens, P. (author)
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Gasser, T. (author)
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Chinnery, P. F. (author)
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Hemmer, B. (author)
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Huisman, M. A. (author)
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Troncoso, J. (author)
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Moreno, F. (author)
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Nohr, E. A. (author)
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Sorensen, T. I. A. (author)
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Heutink, P. (author)
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Sanchez-Juan, P. (author)
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Posthuma, D. (author)
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Clarimon, J. (author)
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Christensen, K. (author)
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Ertekin-Taner, N. (author)
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Scholz, S. W. (author)
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Ramirez, A. (author)
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Ruiz, A. (author)
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Slagboom, E. (author)
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van der Flier, W. M. (author)
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Holstege, H. (author)
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(creator_code:org_t)
- 2019-05-26
- 2019
- English.
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In: Acta Neuropathologica. - : Springer Science and Business Media LLC. - 0001-6322 .- 1432-0533. ; 138:2, s. 237-250
- Related links:
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https://link.springe...
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Subject headings
Close
- The genetic variant rs72824905-G (minor allele) in the PLCG2 gene was previously associated with a reduced Alzheimer's disease risk (AD). The role of PLCG2 in immune system signaling suggests it may also protect against other neurodegenerative diseases and possibly associates with longevity. We studied the effect of the rs72824905-G on seven neurodegenerative diseases and longevity, using 53,627 patients, 3,516 long-lived individuals and 149,290 study-matched controls. We replicated the association of rs72824905-G with reduced AD risk and we found an association with reduced risk of dementia with Lewy bodies (DLB) and frontotemporal dementia (FTD). We did not find evidence for an effect on Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS) and multiple sclerosis (MS) risks, despite adequate sample sizes. Conversely, the rs72824905-G allele was associated with increased likelihood of longevity. By-proxy analyses in the UK Biobank supported the associations with both dementia and longevity. Concluding, rs72824905-G has a protective effect against multiple neurodegenerative diseases indicating shared aspects of disease etiology. Our findings merit studying the PLC gamma 2 pathway as drug-target.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Keyword
- Alzheimer's disease
- Frontotemporal dementia
- Dementia with Lewy bodies
- Progressive supranuclear palsy
- Parkinson's disease
- Amyotrophic lateral sclerosis
- Multiple sclerosis
- Neurodegenerative disease
- Longevity
- PLCG2
- Phospholipase C Gamma 2
- genome-wide association
- phospholipase-c-gamma
- genetic architecture
- innate immunity
- activation
- apoe
- autoimmunity
- inflammation
- replication
- mechanisms
- Neurosciences & Neurology
- Pathology
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
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van der Lee, S. ...
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Conway, O. J.
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Jansen, I.
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Carrasquillo, M. ...
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Kleineidam, L.
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van den Akker, E ...
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show more...
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Hernandez, I.
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van Eijk, K. R.
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Stringa, N.
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Chen, J. A.
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Zettergren, Anna ...
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Andlauer, T. F. ...
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Diez-Fairen, M.
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Simon-Sanchez, J ...
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Lleo, A.
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Zetterberg, H.
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Nygaard, M.
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Blauwendraat, C.
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Savage, J. E.
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Mengel-From, J.
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Moreno-Grau, S.
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Wagner, M.
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Fortea, J.
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Keogh, M. J.
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Blennow, Kaj, 19 ...
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Skoog, I.
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Friese, M. A.
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Pletnikova, O.
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Zulaica, M.
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Lage, C.
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de Rojas, I.
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Riedel-Heller, S ...
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Illan-Gala, I.
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Wei, W.
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Jeune, B.
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Orellana, A.
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Bergh, F. T.
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Wang, X.
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Hulsman, M.
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Beker, N.
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Tesi, N.
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Morris, C. M.
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Indakoetxea, B.
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Collij, L. E.
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Scherer, M.
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Morenas-Rodrigue ...
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Ironside, J. W.
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van Berckel, B. ...
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Alcolea, D.
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Wiendl, H.
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Strickland, S. L ...
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Pastor, P.
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Rodriguez Rodrig ...
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Boeve, B. F.
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Petersen, R. C.
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Ferman, T. J.
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van Gerpen, J. A ...
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Reinders, M. J. ...
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Uitti, R. J.
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Tarraga, L.
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Maier, W.
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Dols-Icardo, O.
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Kawalia, A.
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Dalmasso, M. C.
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Boada, M.
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Zettl, U. K.
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van Schoor, N. M ...
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Beekman, M.
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Allen, M.
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Masliah, E.
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de Munain, A. L.
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Pantelyat, A.
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Wszolek, Z. K.
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Ross, O. A.
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Dickson, D. W.
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Graff-Radford, N ...
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Knopman, D.
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Rademakers, R.
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Lemstra, A. W.
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Pijnenburg, Y. A ...
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Scheltens, P.
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Gasser, T.
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Chinnery, P. F.
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Hemmer, B.
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Huisman, M. A.
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Troncoso, J.
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Moreno, F.
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Nohr, E. A.
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Sorensen, T. I. ...
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Heutink, P.
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Sanchez-Juan, P.
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Posthuma, D.
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Clarimon, J.
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Christensen, K.
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Ertekin-Taner, N ...
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Scholz, S. W.
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Ramirez, A.
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Ruiz, A.
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Slagboom, E.
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van der Flier, W ...
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Holstege, H.
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Neurosciences
- Articles in the publication
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Acta Neuropathol ...
- By the university
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University of Gothenburg