-
1
-
-
0029115555
-
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families
-
Alzheimer's Disease Collaborative Group (1995) The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Nat Genet 11:219-222
-
(1995)
Nat Genet
, vol.11
, pp. 219-222
-
-
-
2
-
-
16944362157
-
Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice
-
Citron M, Westaway D, Xia W, Carlson G, Diehl T, Levesque G, Johnson-Wood K, et al (1997) Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice. Nat Med 3:67-72
-
(1997)
Nat Med
, vol.3
, pp. 67-72
-
-
Citron, M.1
Westaway, D.2
Xia, W.3
Carlson, G.4
Diehl, T.5
Levesque, G.6
Johnson-Wood, K.7
-
3
-
-
0028861041
-
Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3
-
Cruts M, Backhovens H, Wang S-Y, Van Gassen G, Theuns J, De Jonghe C, Wehnert A, et al (1995) Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3. Hum Mol Genet 4:2363-2371
-
(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.6
Wehnert, A.7
-
4
-
-
0029813255
-
The presenilin genes: A new gene family involved in Alzheimer disease pathology
-
Cruts M, Hendriks L, Van Broeckhoven C (1996) The presenilin genes: a new gene family involved in Alzheimer disease pathology. Hum Mol Genet 5:1449-1455
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1449-1455
-
-
Cruts, M.1
Hendriks, L.2
Van Broeckhoven, C.3
-
5
-
-
85030307050
-
Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population based study of presenile Alzheimer disease
-
in press
-
Cruts M, van Duijn CL, Backhovens H, Van Der Broek M, Wehnert A, Serneels S, Sherrington R, et al. Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population based study of presenile Alzheimer disease. Hum Mol Genet (in press)
-
Hum Mol Genet
-
-
Cruts, M.1
Van Duijn, C.L.2
Backhovens, H.3
Van Der Broek, M.4
Wehnert, A.5
Serneels, S.6
Sherrington, R.7
-
6
-
-
0030293854
-
Protein topology of presenilin 1
-
Doan A, Thinakaran G, Borchelt DR, Slunt HH, Ratovitsky T, Podlisny M, Selkoe DJ, et al (1996) Protein topology of presenilin 1. Neuron 17:1023-1030
-
(1996)
Neuron
, vol.17
, pp. 1023-1030
-
-
Doan, A.1
Thinakaran, G.2
Borchelt, D.R.3
Slunt, H.H.4
Ratovitsky, T.5
Podlisny, M.6
Selkoe, D.J.7
-
7
-
-
16044366039
-
Increased amyloid-beta-42 (43) in brains of mice expressing mutant presenilin-1
-
Duff K, Eckman C, Zehr C, Yu X, Prada CM, Perez-Tur J, Hutton M, et al (1996) Increased amyloid-beta-42 (43) in brains of mice expressing mutant presenilin-1. Nature 383: 710-713
-
(1996)
Nature
, vol.383
, pp. 710-713
-
-
Duff, K.1
Eckman, C.2
Zehr, C.3
Yu, X.4
Prada, C.M.5
Perez-Tur, J.6
Hutton, M.7
-
8
-
-
0242310819
-
Alzheimer's disease
-
King RA, Rotter JI, Motulsky AG (eds) Oxford University Press, Oxford
-
Heston LL (1992) Alzheimer's disease. In: King RA, Rotter JI, Motulsky AG (eds) The genetic basis of common diseases. Oxford University Press, Oxford, pp 792-800
-
(1992)
The Genetic Basis of Common Diseases
, pp. 792-800
-
-
Heston, L.L.1
-
9
-
-
9344237637
-
Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease
-
Hutton M, Busfield F, Wragg M, Crook R, Perez-Tur J, Clark RF, Prihar G, et al (1996) Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease. Neuroreport 7: 801-805
-
(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
-
10
-
-
0029906585
-
Assessment of normal and mutant human presenilin function in Caenorhabditis elegans
-
Levitan D, Doyle TG, Brousseau D, Lee MK, Thinakaran G, Slunt H, Sisodia SS, et al (1997) Assessment of normal and mutant human presenilin function in Caenorhabditis elegans. Proc Natl Acad Sci USA 93:14940-14944
-
(1997)
Proc Natl Acad Sci USA
, vol.93
, pp. 14940-14944
-
-
Levitan, D.1
Doyle, T.G.2
Brousseau, D.3
Lee, M.K.4
Thinakaran, G.5
Slunt, H.6
Sisodia, S.S.7
-
11
-
-
0029835707
-
Defects in RNA splicing and the consequence of shortened translational reading frames
-
Maquat LE (1996) Defects in RNA splicing and the consequence of shortened translational reading frames. Am J Hum Genet 59:279-286
-
(1996)
Am J Hum Genet
, vol.59
, pp. 279-286
-
-
Maquat, L.E.1
-
12
-
-
0020050314
-
A catalogue of splice junction sequences
-
Mount SM (1982) A catalogue of splice junction sequences. Nucleic Acids Res 10:459-472
-
(1982)
Nucleic Acids Res
, vol.10
, pp. 459-472
-
-
Mount, S.M.1
-
13
-
-
0028914970
-
Prevalence of Alzheimer's disease and vascular dementia: Association with education
-
Ott A, Breteler MMB, Van Harskamp F, Claus JJ, Van der Cammen TJM, Grobbee DE, Hofman A (1995) Prevalence of Alzheimer's disease and vascular dementia: association with education. BMJ 310:970-973
-
(1995)
BMJ
, vol.310
, pp. 970-973
-
-
Ott, A.1
Breteler, M.M.B.2
Van Harskamp, F.3
Claus, J.J.4
Van Der Cammen, T.J.M.5
Grobbee, D.E.6
Hofman, A.7
-
14
-
-
0029554875
-
A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene
-
Perez-Tur J, Froelich S, Prihar G, Crook R, Baker M, Duff K, Wragg M, et al (1995) A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene. Neuroreport 7:297-301
-
(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
-
15
-
-
0029899593
-
Incomplete penetrance of familial Alzheimer's disease in a pedigree with a novel presenilin-1 gene mutation
-
Rossor MN, Fox NC, Beck J, Campbell TC, Collinge J (1996) Incomplete penetrance of familial Alzheimer's disease in a pedigree with a novel presenilin-1 gene mutation. Lancet 347:1560
-
(1996)
Lancet
, vol.347
, pp. 1560
-
-
Rossor, M.N.1
Fox, N.C.2
Beck, J.3
Campbell, T.C.4
Collinge, J.5
-
17
-
-
16044373524
-
Secreted amyloid β-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease
-
Scheuner D, Eckman C, Jensen M, Song X, Citron M, Suzuki N, Bird TD, et al (1996) Secreted amyloid β-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease. Nat Med 2:864-870
-
(1996)
Nat Med
, vol.2
, pp. 864-870
-
-
Scheuner, D.1
Eckman, C.2
Jensen, M.3
Song, X.4
Citron, M.5
Suzuki, N.6
Bird, T.D.7
-
18
-
-
0030297259
-
Sequence analysis of presenilin-1 gene mutation in Japanese Alzheimer's disease patients
-
Tanahashi H, Kawakatsu S, Kaneko M, Yamanaka H, Takahashi K, Tabira T (1996) Sequence analysis of presenilin-1 gene mutation in Japanese Alzheimer's disease patients. Neurosci Lett 218:139-141
-
(1996)
Neurosci Lett
, vol.218
, pp. 139-141
-
-
Tanahashi, H.1
Kawakatsu, S.2
Kaneko, M.3
Yamanaka, H.4
Takahashi, K.5
Tabira, T.6
-
19
-
-
0030942430
-
Analysis of alpha-1 antichymotrypsin, presenilin-1, angiotensin-converting enzyme and methylenetetrahydrofolate reductase loci as candidates for dementia
-
Tysoe C, Galinsky D, Robinson D, Brayne CE, Easton DF, Huppert FA, Dening T, et al (1997) Analysis of alpha-1 antichymotrypsin, presenilin-1, angiotensin-converting enzyme and methylenetetrahydrofolate reductase loci as candidates for dementia. Am J Med Genet 74:207-212
-
(1997)
Am J Med Genet
, vol.74
, pp. 207-212
-
-
Tysoe, C.1
Galinsky, D.2
Robinson, D.3
Brayne, C.E.4
Easton, D.F.5
Huppert, F.A.6
Dening, T.7
-
20
-
-
0028883252
-
Molecular genetics of Alzheimer disease: Identification of genes and gene mutations
-
Van Broeckhoven C (1995a) Molecular genetics of Alzheimer disease: identification of genes and gene mutations. Eur Neurol 35:8-19
-
(1995)
Eur Neurol
, vol.35
, pp. 8-19
-
-
Van Broeckhoven, C.1
-
21
-
-
0029411573
-
Presenilins and Alzheimer disease
-
_ (1995b) Presenilins and Alzheimer disease. Nat Genet 11:230-232
-
(1995)
Nat Genet
, vol.11
, pp. 230-232
-
-
-
22
-
-
17344364420
-
Estimation of the frequency of presenilin-1 in a population-based sample of early-onset Alzheimer disease
-
Van Broeckhoven C, Backhovens H, Wehnert A, De Voecht J, Cruts M, Sherrington R, St George-Hyslop PH, et al (1996) Estimation of the frequency of presenilin-1 in a population-based sample of early-onset Alzheimer disease. Neurobiol Dis Suppl 17:5194
-
(1996)
Neurobiol Dis Suppl
, vol.17
, pp. 5194
-
-
Van Broeckhoven, C.1
Backhovens, H.2
Wehnert, A.3
De Voecht, J.4
Cruts, M.5
Sherrington, R.6
St George-Hyslop, P.H.7
-
23
-
-
0003661906
-
-
World Health Organization, Geneva
-
World Health Organization (1996) World health statistics annual. World Health Organization, Geneva
-
(1996)
World Health Statistics Annual
-
-
-
24
-
-
0030028429
-
Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease
-
Wragg M, Hutton M, Talbot C, Alzheimer's Disease Collaborative Group (1996) Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease. Lancet 347:509-512
-
(1996)
Lancet
, vol.347
, pp. 509-512
-
-
Wragg, M.1
Hutton, M.2
Talbot, C.3
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