-
2
-
-
6844255860
-
Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenilin Alzheimer disease
-
(1998)
Hum Mol Genet
, vol.7
, pp. 43-51
-
-
Cruts, M.1
Van Duijn, C.M.2
Bachovens, H.3
Van den Broeck, M.4
Wehnert, A.5
Serneels, S.6
Sherrington, R.7
Hutton, M.8
Hardy, J.9
St George-Hyslop, P.H.10
Hofman, A.11
Van Broeckhoven, C.12
-
5
-
-
16044365171
-
The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology
-
(1996)
Nat Med
, vol.2
, pp. 1146-1150
-
-
Lemere, C.A.1
Lopera, F.2
Kosik, K.S.3
Lendon, C.L.4
Ossa, J.5
Saido, T.C.6
Yamaguchi, H.7
Ruiz, A.8
Martinez, A.9
Madrigal, L.10
Hincapie, L.11
Arango, J.C.12
Anthony, D.C.13
Koo, E.H.14
Goate, A.M.15
Selkoe, D.J.16
Arango, J.C.17
-
6
-
-
0030028429
-
Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease
-
Alzheimer's Disease Collaborative Group
-
(1996)
Lancet
, vol.347
, pp. 509-512
-
-
Wragg, M.1
Hutton, M.2
Talbot, C.3
-
8
-
-
0032742952
-
Genetic association of the presenilin-1 regulatory region with early-onset Alzheimer's disease in a population-based sample
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 801-806
-
-
Van Duijn, C.1
Cruts, M.2
Theuns, J.3
Van Gassen, G.C.M.4
Backhovens, H.5
Van den Broeck, M.6
Wehnert, A.7
Serneels, S.8
Hofman, A.9
Van Broeckhoven, C.10
-
9
-
-
0034639656
-
Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression
-
(2000)
Hum Mol Genet
, vol.9
, pp. 325-331
-
-
Theuns, J.1
Del-Favero, J.2
Dermaut, B.3
Van Duijn, C.M.4
Backhovens, H.5
Van den Broeck, M.V.6
Serneels, S.7
Corsmit, E.8
Van Broeckhoven, C.V.9
Cruts, M.10
-
11
-
-
0000138540
-
Effects of PS1 deficiency on membrane protein trafficking in neurons
-
(1998)
Neuron
, vol.21
, pp. 1213
-
-
Naruse, S.1
Thinakaran, G.2
Luo, J.J.3
Kusiak, J.M.4
Tomita, T.5
Iwatsubo, T.6
Qian, X.7
Ginty, D.D.8
Price, D.L.9
Borchelt, D.R.10
Wong, P.C.11
Sisodia, S.S.12
-
14
-
-
0034621824
-
Photoactivated g-secretase inhibitors directed to the active site covalently label presenilin 1
-
(2000)
Nature
, vol.405
, pp. 689-694
-
-
Li, Y.M.1
Lai, M.T.2
Huang, Q.3
Castro, J.L.4
DiMuzio-Mower, J.5
Harrison, R.6
Lellis, C.7
Nadin, A.8
Neduvelil, J.G.9
Register, R.B.10
Sardana, M.K.11
Shearman, M.A.12
Smith, A.L.13
Shi, X.P.14
Yin, K.C.15
Shafer, J.A.16
Gardell, S.J.17
-
15
-
-
0032556859
-
Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein
-
(1998)
Nature
, vol.391
, pp. 387-390
-
-
De Strooper, B.1
Saftig, P.2
Craessaerts, K.3
Vanderstichele, H.4
Guhde, G.5
Annaert, W.6
Von Figura, K.7
Van Leuven, F.8
-
16
-
-
0033537921
-
Enhancement of amyloid β 42 secretion by 28 different presenilin 1 mutations of familial Alzheimer's disease
-
(1999)
Neurosci Lett
, vol.265
, pp. 61-63
-
-
Murayama, O.1
Tomita, T.2
Nihonmatsu, N.3
Murayama, M.4
Sun, X.5
Honda, T.6
Iwatsubo, T.7
Takashima, A.8
-
18
-
-
0033538502
-
Genetic variability at the amyloid-beta precursor protein locus may contribute to the risk of late-onset Alzheimer's disease
-
(1999)
Neurosci Lett
, vol.269
, pp. 67-70
-
-
Wavrant-De Vrieze, F.1
Crook, R.2
Holmans, P.3
Kehoe, P.4
Owen, M.J.5
Williams, J.6
Roehl, K.7
Laliiri, D.K.8
Shears, S.9
Booth, J.10
Wu, W.11
Goate, A.12
Chartier-Harlin, M.C.13
Hardy, J.14
Perez-Tur, J.15
-
19
-
-
7344221464
-
Pronounced impact of Th1/E47cs mutation compared with -491 AT mutation on neural APOE gene expression and risk of developing Alzheimer's disease
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1511-1516
-
-
Lambert, J.C.1
Berr, C.2
Pasquier, F.3
Delacourte, A.4
Frigard, B.5
Cottel, D.6
Perez-Tur, J.7
Mouroux, V.8
Mohr, M.9
Cecyre, D.10
Galasko, D.11
Lendon, C.12
Poirer, J.13
Hardy, J.14
Mann, D.15
Amouyel, P.16
Chartier-Harlin, M.C.17
-
20
-
-
17344374322
-
A polymorphism in the regulatory region of APOE associated with risk for Alzheimer's dementia
-
(1998)
Nat Genet
, vol.18
, pp. 69-71
-
-
Bullido, M.J.1
Artiga, M.J.2
Recuero, M.3
Sastre, I.4
Garcia, M.A.5
Aldudo, J.6
Lendon, C.7
Han, S.W.8
Morris, J.C.9
Frank, A.10
Vazquez, J.11
Goate, A.12
Valdivieso, F.13
|