-
3
-
-
0029115555
-
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families
-
(1995)
Nat Genet
, vol.11
, pp. 219-222
-
-
-
4
-
-
0025989981
-
DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type)
-
(1991)
Am J Hum Genet
, vol.49
, pp. 518-521
-
-
Bakker, E.1
Van Broeckhoven, C.2
Haan, J.3
Voorhoeve, E.4
Van Hul, W.5
Levy, E.6
Lieberburg, I.7
Carman, M.D.8
Van Ommen, G.J.9
Frangione, B.10
-
6
-
-
0033358671
-
Early-onset autosomal dominant Alzheimer disease: Prevalence, genetic heterogeneity, and mutation spectrum
-
(1999)
Am J Hum Genet
, vol.65
, pp. 664-670
-
-
Campion, D.1
Dumanchin, C.2
Hannequin, D.3
Dubois, B.4
Belliard, S.5
Puel, M.6
Thomas-Anterion, C.7
Michon, A.8
Martin, C.9
Charbonnier, F.10
Raux, G.11
Camuzat, A.12
Penet, C.13
Mesnage, V.14
Martinez, M.15
Clerget-Darpoux, F.16
Brice, A.17
Frebourg, T.18
-
7
-
-
0031949628
-
A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1
-
(1998)
Nat Med
, vol.4
, pp. 452-455
-
-
Crook, R.1
Verkkoniemi, A.2
Perez-Tur, J.3
Mehta, N.4
Baker, M.5
Houlden, H.6
Farrer, M.7
Hutton, M.8
Lincoln, S.9
Hardy, J.10
Gwinn, K.11
Somer, M.12
Paetau, A.13
Kalimo, H.14
Ylikoski, R.15
Poyhonen, M.16
Kucera, S.17
Haltia, M.18
-
8
-
-
0028861041
-
Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2363-2371
-
-
Cruts, M.1
Backhovens, H.2
Wang, S.Y.3
Van Gassen, G.4
Theuns, J.5
De Jonghe, C.D.6
Wehnert, A.7
De Voecht, J.8
De Winter, G.9
Cras, P.10
-
9
-
-
6844255860
-
Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease
-
(1998)
Hum Mol Genet
, vol.7
, pp. 43-51
-
-
Cruts, M.1
Van Duijn, C.M.2
Backhovens, H.3
Van den Broeck, M.4
Wehnert, A.5
Serneels, S.6
Sherrington, R.7
Hutton, M.8
Hardy, J.9
George-Hyslop, P.H.10
Hofman, A.11
Van Broeckhoven, C.12
-
10
-
-
0032854745
-
Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1529-1540
-
-
De Jonghe, C.1
Cruts, M.2
Rogaeva, E.A.3
Tysoe, C.4
Singleton, A.5
Vanderstichele, H.6
Meschino, W.7
Dermaut, B.8
Vanderhoeven, I.9
Backhovens, H.10
Vanmechelen, E.11
Morris, C.M.12
Hardy, J.13
Rubinsztein, D.C.14
George-Hyslop, P.H.15
Van Broeckhoven, C.16
-
11
-
-
0033366606
-
The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease
-
(1999)
Am J Hum Genet
, vol.64
, pp. 290-292
-
-
Dermaut, B.1
Cruts, M.2
Slooter, A.J.3
Van Gestel, S.4
De Jonghe, C.5
Vanderstichele, H.6
Vanmechelen, E.7
Breteler, M.M.8
Hofman, A.9
Van Duijn, C.M.10
Van Broeckhoven, C.11
-
12
-
-
84898696044
-
Glu318Gly in Presenilin-1 is a neutral mutation in relation to dementia: The Rotterdam study
-
Iqbal K, Swaab DF, Winblab B, Wisniewski HM, editors. Alzheimer's disease and related disorders. New York: John Wiley & Sons, Ltd.
-
(1999)
, pp. 87-92
-
-
Dermaut, B.1
Cruts, M.2
Slooter, A.J.3
Van Gestel, S.4
De Jonghe, C.5
Backhovens, H.6
Vanderstichele, H.7
Vanmechelen, E.8
Breteler, M.M.9
Hofman, A.10
Hendriks, L.11
Van Duijn, C.M.12
Van Broeckhoven, C.13
-
13
-
-
0030823158
-
Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis
-
APOE and Alzheimer Disease Meta Analysis Consortium
-
(1997)
JAMA
, vol.278
, pp. 1349-1356
-
-
Farrer, L.A.1
Cupples, L.A.2
Haines, J.L.3
Hyman, B.4
Kukull, W.A.5
Mayeux, R.6
Myers, R.H.7
Pericak-Vance, M.A.8
Risch, N.9
Van Duijn, C.M.10
-
14
-
-
0026088977
-
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
-
(1991)
Nature
, vol.349
, pp. 704-706
-
-
Goate, A.1
Chartier-Harlin, M.C.2
Mullan, M.3
Brown, J.4
Crawford, F.5
Fidani, L.6
Giuffra, L.7
Haynes, A.8
Irving, N.9
James, L.10
-
15
-
-
0033988657
-
Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer's disease?
-
(2000)
Neurosci Lett
, vol.278
, pp. 65-68
-
-
Helisalmi, S.1
Hiltunen, M.2
Mannermaa, A.3
Koivisto, A.M.4
Lehtovirta, M.5
Alafuzoff, I.6
Ryynanen, M.7
Soininen, H.8
-
16
-
-
9344237637
-
Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease
-
(1996)
Neuroreport
, vol.7
, pp. 801-805
-
-
Hutton, M.1
Busfield, F.2
Wragg, M.3
Crook, R.4
Perez-Tur, J.5
Clark, R.F.6
Prihar, G.7
Talbot, C.8
Phillips, H.9
Wright, K.10
Baker, M.11
Lendon, C.12
Duff, K.13
Martinez, A.14
Houlden, H.15
Nichols, A.16
Karran, E.17
Roberts, G.18
Roques, P.19
Rossor, M.20
Venter, J.C.21
Adams, M.D.22
Cline, R.T.23
Phillips, C.A.24
Goate, A.25
more..
-
17
-
-
0035288137
-
APOE E4 and Alzheimer's disease: Positive association in a Colombian clinical series and review of the Latin-American studies
-
(2001)
Arq Neuropsiquiatr
, vol.69
, pp. 11-17
-
-
Jacquier, M.1
Arango, D.2
Villareal, E.3
Torres, O.4
Serrano, M.L.5
Cruts, M.6
Montañes, P.7
Cano, C.8
Rodriguez, M.N.9
Serneels, S.10
Van Broeckhoven, C.11
-
18
-
-
0026733343
-
Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region
-
(1992)
Am J Hum Genet
, vol.51
, pp. 998-1014
-
-
Kamino, K.1
Orr, H.T.2
Payami, H.3
Wijsman, E.M.4
Alonso, M.E.5
Pulst, S.M.6
Anderson, L.7
O'dahl, S.8
Nemens, E.9
White, J.A.10
-
19
-
-
0029968528
-
Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families
-
(1996)
Neurosci Lett
, vol.208
, pp. 195-198
-
-
Kamino, K.1
Sato, S.2
Sakaki, Y.3
Yoshiiwa, A.4
Nishiwaki, Y.5
Takeda, M.6
Tanabe, H.7
Nishimura, T.8
Ii, K.9
George-Hyslop, P.H.10
Miki, T.11
Ogihara, T.12
-
20
-
-
16944362050
-
E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by APOE alleles
-
(1997)
Hum Mutat
, vol.10
, pp. 186-195
-
-
Lendon, C.L.1
Martinez, A.2
Behrens, I.M.3
Kosik, K.S.4
Madrigal, L.5
Norton, J.6
Neuman, R.7
Myers, A.8
Busfield, F.9
Wragg, M.10
Arcos, M.11
Arango Viana, J.C.12
Ossa, J.13
Ruiz, A.14
Goate, A.M.15
Lopera, F.16
-
21
-
-
0029087026
-
Candidate gene for the chromosome 1 familial Alzheimer's disease locus
-
(1995)
Science
, vol.269
, pp. 973-977
-
-
Levy-Lahad, E.1
Wasco, W.2
Poorkaj, P.3
Romano, D.M.4
Oshima, J.5
Pettingell, W.H.6
Yu, C.E.7
Jondro, P.D.8
Schmidt, S.D.9
Wang, K.10
-
22
-
-
8044226013
-
Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation
-
(1997)
JAMA
, vol.277
, pp. 793-799
-
-
Lopera, F.1
Ardilla, A.2
Martinez, A.3
Madrigal, L.4
Arango-Viana, J.C.5
Lemere, C.A.6
Arango-Lasprilla, J.C.7
Hincapie, L.8
Arcos-Burgos, M.9
Ossa, J.E.10
Behrens, I.M.11
Norton, J.12
Lendon, C.13
Goate, A.M.14
Ruiz-Linares, A.15
Rosselli, M.16
Kosik, K.S.17
-
23
-
-
0031596373
-
Apolipoprotein E epsilon4 allele and familial aggregation of Alzheimer disease
-
(1998)
Arch Neurol
, vol.55
, pp. 810-816
-
-
Martinez, M.1
Campion, D.2
Brice, A.3
Hannequin, D.4
Dubois, B.5
Didierjean, O.6
Michon, A.7
Thomas-Anterion, C.8
Puel, M.9
Frebourg, T.10
Agid, Y.11
Clerget-Darpoux, F.12
-
24
-
-
17944404642
-
The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease
-
(1998)
Ann Neurol
, vol.44
, pp. 965-967
-
-
Mattila, K.M.1
Forsell, C.2
Pirttila, T.3
Rinne, J.O.4
Lehtimaki, T.5
Roytta, M.6
Lilius, L.7
Eerola, A.8
George-Hyslop, P.H.9
Frey, H.10
Lannfelt, L.11
-
27
-
-
9344231454
-
Mutational screening of APP gene in patients with early-onset Alzheimer disease utilizing mismatched PCR-RFLP
-
(1996)
Clin Genet
, vol.49
, pp. 119-123
-
-
Nishiwaki, Y.1
Kamino, K.2
Yoshiiwa, A.3
Nagano, K.4
Takeda, M.5
Tanabe, H.6
Nishimura, T.7
Kobayashi, T.8
Yamamoto, H.9
Nonomura, Y.10
Yoneda, H.11
Sakai, T.12
Imagawa, M.13
Miki, T.14
Ogihara, T.15
-
28
-
-
0029554875
-
A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene
-
(1995)
Neuroreport
, vol.7
, pp. 297-301
-
-
Perez-Tur, J.1
Froelich, S.2
Prihar, G.3
Crook, R.4
Baker, M.5
Duff, K.6
Wragg, M.7
Busfield, F.8
Lendon, C.9
Clark, R.F.10
-
29
-
-
0031790549
-
A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease
-
(1998)
Ann Genet
, vol.41
, pp. 149-153
-
-
Ramirez-Duenas, M.G.1
Rogaeva, E.A.2
Leal, C.A.3
Lin, C.4
Ramirez-Casillas, G.A.5
Hernandez-Romo, J.A.6
George-Hyslop, P.H.7
Cantu, J.M.8
-
30
-
-
0029101491
-
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
-
(1995)
Nature
, vol.376
, pp. 775-778
-
-
Rogaev, E.I.1
Sherrington, R.2
Rogaeva, E.A.3
Levesque, G.4
Ikeda, M.5
Liang, Y.6
Chi, H.7
Lin, C.8
Holman, K.9
Tsuda, T.10
-
34
-
-
0029004341
-
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
-
(1995)
Nature
, vol.375
, pp. 754-760
-
-
Sherrington, R.1
Rogaev, E.I.2
Liang, Y.3
Rogaeva, E.A.4
Levesque, G.5
Ikeda, M.6
Chi, H.7
Lin, C.8
Li, G.9
Holman, K.10
-
35
-
-
0035115610
-
Variable phenotype of Alzheimer's disease with spastic paraparesis
-
(2001)
Ann Neurol
, vol.49
, pp. 125-129
-
-
Smith, M.J.1
Kwok, J.B.2
McLean, C.A.3
Kril, J.J.4
Broe, G.A.5
Nicholson, G.A.6
Cappai, R.7
Hallupp, M.8
Cotton, R.G.9
Masters, C.L.10
Schofield, P.R.11
Brooks, W.S.12
-
36
-
-
12044254746
-
Binding of human apolipoprotein E to synthetic amyloid beta peptide: Isoform-specific effects and implications for late-onset Alzheimer disease
-
(1993)
Proc Natl Acad Sci U S A
, vol.90
, pp. 8098-8102
-
-
Strittmatter, W.J.1
Weisgraber, K.H.2
Huang, D.Y.3
Dong, L.M.4
Salvesen, G.S.5
Pericak-Vance, M.6
Schmechel, D.7
Saunders, A.M.8
Goldgaber, D.9
Roses, A.D.10
-
39
-
-
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
|