-
1
-
-
0025989415
-
Frequency and distribution of Alzheimer's disease in Europe: A collaborative study of 1980-1990 prevalence findings
-
Eurodem-Prevalence Research Group
-
Rocca WA, Hofman A, Brayne C, et al. Frequency and distribution of Alzheimer's disease in Europe: A collaborative study of 1980-1990 prevalence findings. The EURODEM-Prevalence Research Group. Ann Neurol. 1991; 30:381-390.
-
Ann Neurol.
, vol.1991
, Issue.30
, pp. 381-390
-
-
Rocca, W.A.1
Hofman, A.2
Brayne, C.3
-
2
-
-
0033358671
-
Early-onset autosomal dominant Alzheimer disease: Prevalence, genetic heterogeneity, and mutation spectrum
-
Campion D, Dumanchin C, Hannequin D, et al. Early-onset autosomal dominant Alzheimer disease: Prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet. 1999; 65:664-670.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 664-670
-
-
Campion, D.1
Dumanchin, C.2
Hannequin, D.3
-
3
-
-
0026088977
-
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
-
Goate A, Chartier-Harlin MC, Mullan M, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature. 1991;349: 704-706.
-
(1991)
Nature
, vol.349
, pp. 704-706
-
-
Goate, A.1
Chartier-Harlin, M.C.2
Mullan, M.3
-
4
-
-
0026471656
-
Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14
-
Schellenberg GD, Bird TD, Wijsman EM, et al. Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science. 1992;258:668-671.
-
(1992)
Science
, vol.258
, pp. 668-671
-
-
Schellenberg, G.D.1
Bird, T.D.2
Wijsman, E.M.3
-
5
-
-
0029004341
-
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
-
Sherrington R, Rogaev EI, Liang Y, et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature. 1995;375:754-760.
-
(1995)
Nature
, vol.375
, pp. 754-760
-
-
Sherrington, R.1
Rogaev, E.I.2
Liang, Y.3
-
6
-
-
0029087026
-
Candidate gene for the chromosome 1 familial Alzheimer's disease locus
-
Levy-Lahad E, Wasco W, Poorkaj P, et al. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science. 1995;269:973-977.
-
(1995)
Science
, vol.269
, pp. 973-977
-
-
Levy-Lahad, E.1
Wasco, W.2
Poorkaj, P.3
-
7
-
-
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
-
Rogaev EI, Sherrington R, Rogaeva EA, et al. Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature. 1995;376:775-778.
-
(1995)
Nature
, vol.376
, pp. 775-778
-
-
Rogaev, E.I.1
Sherrington, R.2
Rogaeva, E.A.3
-
8
-
-
6844255860
-
Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease
-
Cruts M, van Duijn CM, Backhovens H, 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. 1998;7:43-51.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 43-51
-
-
Cruts, M.1
Van Duijn, C.M.2
Backhovens, H.3
-
10
-
-
29444442794
-
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
-
Rovelet-Lecrux A, Hannequin D, Raux G, et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet. 2006; 38:24-26.
-
(2006)
Nat Genet
, vol.38
, pp. 24-26
-
-
Rovelet-Lecrux, A.1
Hannequin, D.2
Raux, G.3
-
11
-
-
33750579333
-
APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy
-
Sleegers K, Brouwers N, Gijselinck I, et al. APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy. Brain. 2006;129:2977-2983.
-
(2006)
Brain
, vol.129
, pp. 2977-2983
-
-
Sleegers, K.1
Brouwers, N.2
Gijselinck, I.3
-
12
-
-
34848922135
-
APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage
-
Rovelet-Lecrux A, Frebourg T, Tuominen H, et al. APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage. J Neurol Neurosurg Psychiatry. 2007;78: 1158-1159.
-
(2007)
J Neurol Neurosurg Psychiatry
, vol.78
, pp. 1158-1159
-
-
Rovelet-Lecrux, A.1
Frebourg, T.2
Tuominen, H.3
-
13
-
-
0027194791
-
Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families
-
Corder EH, Saunders AM, Strittmatter WJ, et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science. 1993;261:921-923.
-
(1993)
Science
, vol.261
, pp. 921-923
-
-
Corder, E.H.1
Saunders, A.M.2
Strittmatter, W.J.3
-
14
-
-
0028026997
-
Apolipoprotein E4 allele in a population-based study of early-onset Alzheimer's disease
-
Van Duijn CM, de Knijff P, Cruts M, et al. Apolipoprotein E4 allele in a population-based study of early-onset Alzheimer's disease. Nat Genet. 1994;7:74-78.
-
(1994)
Nat Genet
, vol.7
, pp. 74-78
-
-
Van Duijn, C.M.1
De Knijff, P.2
Cruts, M.3
-
15
-
-
0034727634
-
A presenilin-1 mutation (Leu392Pro) in a familial AD kindred with psychiatric symptoms at onset
-
Tedde A, Forleo P, Nacmias B, et al. A presenilin-1 mutation (Leu392Pro) in a familial AD kindred with psychiatric symptoms at onset. Neurology. 2000;55:1590-1591.
-
(2000)
Neurology
, vol.55
, pp. 1590-1591
-
-
Tedde, A.1
Forleo, P.2
Nacmias, B.3
-
16
-
-
0034727610
-
Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation
-
Raux G, Gantier R, Thomas-Anterion C, et al. Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation. Neurology. 2000;55:1577-1579.
-
(2000)
Neurology
, vol.55
, pp. 1577-1579
-
-
Raux, G.1
Gantier, R.2
Thomas-Anterion, C.3
-
17
-
-
11144357241
-
A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques
-
Dermaut B, Kumar-Singh S, Engelborghs S, et al. A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. Ann Neurol. 2004;55:617-626.
-
(2004)
Ann Neurol
, vol.55
, pp. 617-626
-
-
Dermaut, B.1
Kumar-Singh, S.2
Engelborghs, S.3
-
18
-
-
67849123734
-
Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia
-
Bernardi L, Tomaino C, Anfossi M, et al. Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia. Neurobiol Aging. 2009;30:1825-1833.
-
(2009)
Neurobiol Aging
, vol.30
, pp. 1825-1833
-
-
Bernardi, L.1
Tomaino, C.2
Anfossi, M.3
-
19
-
-
76449119782
-
Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in two siblings with frontotemporal dementia
-
Gallo M, Tomaino C, Puccio G, et al. Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in two siblings with frontotemporal dementia. Neurol Sci. 2010;31:65-70.
-
(2010)
Neurol Sci
, vol.31
, pp. 65-70
-
-
Gallo, M.1
Tomaino, C.2
Puccio, G.3
-
20
-
-
0021271971
-
Clinical diagnosis of Alzheimer's disease: Report of the NINCDSADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's disease
-
McKhann G, Drachman D, Folstein M, et al. Clinical diagnosis of Alzheimer's disease: Report of the NINCDSADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's disease. Neurology. 1984;34:939-944.
-
(1984)
Neurology
, vol.34
, pp. 939-944
-
-
McKhann, G.1
Drachman, D.2
Folstein, M.3
-
21
-
-
0031672540
-
Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria
-
Neary D, Snowden JS, Gustafson L, et al. Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria. Neurology. 1998;51:1546-1554.
-
(1998)
Neurology
, vol.51
, pp. 1546-1554
-
-
Neary, D.1
Snowden, J.S.2
Gustafson, L.3
-
22
-
-
58549092073
-
Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland
-
Kaivorinne AL, Krü ger J, Kuivaniemi K, et al. Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland. BMC Neurol. 2008;8:48.
-
(2008)
BMC Neurol
, vol.8
, pp. 48
-
-
Kaivorinne, A.L.1
Krüger, J.2
Kuivaniemi, K.3
-
23
-
-
57449097370
-
Low prevalence of progranulin mutations in Finnish patients with frontotemporal lobar degeneration
-
Krü ger J, Kaivorinne AL, Majamaa K, et al. Low prevalence of progranulin mutations in Finnish patients with frontotemporal lobar degeneration. Eur J Neurol. 2009;16:27-30.
-
(2009)
Eur J Neurol
, vol.16
, pp. 27-30
-
-
Krüger, J.1
Kaivorinne, A.L.2
Majamaa, K.3
-
24
-
-
3242808900
-
Hereditary dementia with intracerebral hemorrhages and cerebral amyloid angiopathy
-
Remes AM, Finnilä S, Mononen H, et al. Hereditary dementia with intracerebral hemorrhages and cerebral amyloid angiopathy. Neurology. 2004;63:234-240.
-
(2004)
Neurology
, vol.63
, pp. 234-240
-
-
Remes, A.M.1
Finnila, S.2
Mononen, H.3
-
25
-
-
0032828163
-
Alzheimer disease PS-1 exon 9 deletion defined
-
Prihar G, Verkkoniemi A, Perez-Tur J, et al. Alzheimer disease PS-1 exon 9 deletion defined. Nat Med. 1999;5:1090.
-
(1999)
Nat Med
, vol.5
, pp. 1090
-
-
Prihar, G.1
Verkkoniemi, A.2
Perez-Tur, J.3
-
26
-
-
0033988657
-
Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer's disease?
-
Helisalmi S, Hiltunen M, Mannermaa A, et al. Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer's disease? Neurosci Lett. 2000;278:65-68.
-
(2000)
Neurosci Lett
, vol.278
, pp. 65-68
-
-
Helisalmi, S.1
Hiltunen, M.2
Mannermaa, A.3
-
27
-
-
0025801744
-
Apolipoprotein E genotyping by one-stage PCR
-
Wenham PR, Price WH, Blandell G. Apolipoprotein E genotyping by one-stage PCR. Lancet. 1991;337:1158-1159.
-
(1991)
Lancet
, vol.337
, pp. 1158-1159
-
-
Wenham, P.R.1
Price, W.H.2
Blandell, G.3
-
28
-
-
0029790382
-
Missense mutations of the PS-1/S182 gene in German early-onset Alzheimer's disease patients
-
Sandbrink R, Zhang D, Schaeffer S, et al. Missense mutations of the PS-1/S182 gene in German early-onset Alzheimer's disease patients. Ann Neurol. 1996;40:265-266.
-
(1996)
Ann Neurol
, vol.40
, pp. 265-266
-
-
Sandbrink, R.1
Zhang, D.2
Schaeffer, S.3
-
29
-
-
0033366606
-
The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease
-
Dermaut B, Cruts M, Slooter AJ, et al. The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease. Am J Hum Genet. 1999;64:290-292.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 290-292
-
-
Dermaut, B.1
Cruts, M.2
Slooter, A.J.3
-
30
-
-
10744221888
-
The E318G substitution in PSEN1 gene is not connected with Alzheimer's disease in a large Polish cohort
-
Zekanowski C, Pepoń ska B, Styczyń ska M, et al. The E318G substitution in PSEN1 gene is not connected with Alzheimer's disease in a large Polish cohort. Neurosci Lett. 2004;357:167-170.
-
(2004)
Neurosci Lett
, vol.357
, pp. 167-170
-
-
Zekanowski, C.1
Pepońska, B.2
Styczyńska, M.3
-
31
-
-
3142621163
-
Familial clustering and genetic risk for dementia in a genetically isolated Dutch population
-
Sleegers K, Roks G, Theuns J, et al. Familial clustering and genetic risk for dementia in a genetically isolated Dutch population. Brain. 2004;127:1641-1649.
-
(2004)
Brain
, vol.127
, pp. 1641-1649
-
-
Sleegers, K.1
Roks, G.2
Theuns, J.3
-
32
-
-
77950529014
-
Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP
-
Guerreiro RJ, Baquero M, Blesa R, et al. Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiol Aging. 2008;31:725-731.
-
(2008)
Neurobiol Aging
, vol.31
, pp. 725-731
-
-
Guerreiro, R.J.1
Baquero, M.2
Blesa, R.3
-
33
-
-
38349138030
-
Low prevalence of APP duplications in Swedish and Finnish patients with earlyonset Alzheimer's disease
-
Blom ES, Viswanathan J, Kilander L, et al. Low prevalence of APP duplications in Swedish and Finnish patients with earlyonset Alzheimer's disease. Eur J Hum Genet. 2008;16:171-175.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 171-175
-
-
Blom, E.S.1
Viswanathan, J.2
Kilander, L.3
-
34
-
-
0031949628
-
A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1
-
Crook R, Verkkoniemi A, Perez-Tur J, et al. A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. Nat Med. 1998;4:452-455.
-
(1998)
Nat Med
, vol.4
, pp. 452-455
-
-
Crook, R.1
Verkkoniemi, A.2
Perez-Tur, J.3
-
35
-
-
0034076439
-
Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: An Alu core sequence-stimulated recombination?
-
Hiltunen M, Helisalmi S, Mannermaa A, et al. Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: An Alu core sequence-stimulated recombination? Eur J Hum Genet. 2000;8:259-266.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 259-266
-
-
Hiltunen, M.1
Helisalmi, S.2
Mannermaa, A.3
-
36
-
-
73949099368
-
Brain pathology in three subjects from the same pedigree with presenilin-1 (PSEN1) P264L mutation
-
Martikainen P, Pikkarainen M, Pö ntynen K, et al. Brain pathology in three subjects from the same pedigree with presenilin-1 (PSEN1) P264L mutation. Neuropathol Appl Neurobiol. 2010;36:41-54.
-
Neuropathol Appl Neurobiol.
, vol.2010
, Issue.36
, pp. 41-54
-
-
Martikainen, P.1
Pikkarainen, M.2
Pöntynen, K.3
-
37
-
-
0028067657
-
Chromosome 14-encoded Alzheimer's disease: Genetic and clinicopathological description
-
Haltia M, Viitanen M, Sulkava R, et al. Chromosome 14-encoded Alzheimer's disease: Genetic and clinicopathological description. Ann Neurol. 1994;36:362-367.
-
(1994)
Ann Neurol
, vol.36
, pp. 362-367
-
-
Haltia, M.1
Viitanen, M.2
Sulkava, R.3
-
38
-
-
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
-
Clark RF, Hutton M, Fuldner M, et al. The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Alzheimer's Disease Collaborative Group. Nat Genet. 1995;11:219-222.
-
(1995)
Nat Genet
, vol.11
, pp. 219-222
-
-
Clark, R.F.1
Hutton, M.2
Fuldner, M.3
-
39
-
-
0037469171
-
Early onset familial Alzheimer's disease: Mutation frequency in 31 families
-
Janssen JC, Beck JA, Campbell TA, et al. Early onset familial Alzheimer's disease: Mutation frequency in 31 families. Neurology. 2003;60:235-239.
-
(2003)
Neurology
, vol.60
, pp. 235-239
-
-
Janssen, J.C.1
Beck, J.A.2
Campbell, T.A.3
-
40
-
-
33645995707
-
Genetic study of Sardinian patients with Alzheimer's disease
-
Piscopo P, Manfredi A, Malvezzi-Campeggi L, et al. Genetic study of Sardinian patients with Alzheimer's disease. Neurosci Lett. 2006;398:124-128.
-
(2006)
Neurosci Lett
, vol.398
, pp. 124-128
-
-
Piscopo, P.1
Manfredi, A.2
Malvezzi-Campeggi, L.3
-
41
-
-
0015858194
-
Hereditary diseases in Finland; rare flora in rare soul
-
Norio R, Nevanlinna HR, Perheentupa J. Hereditary diseases in Finland; rare flora in rare soul. Ann Clin Res. 1973;5:109-141.
-
(1973)
Ann Clin Res
, vol.5
, pp. 109-141
-
-
Norio, R.1
Nevanlinna, H.R.2
Perheentupa, J.3
-
42
-
-
0036372701
-
Association between presenilin-1 Glu318Gly mutation and familial Alzheimer's disease in the Australian population
-
Taddei K, Fisher C, Laws SM, et al. Association between presenilin-1 Glu318Gly mutation and familial Alzheimer's disease in the Australian population. Mol Psychiatry. 2002; 7:776-781.
-
(2002)
Mol Psychiatry
, vol.7
, pp. 776-781
-
-
Taddei, K.1
Fisher, C.2
Laws, S.M.3
-
43
-
-
34548587284
-
Presenilin-1 mutation E318G and familial Alzheimer's disease in the Italian population
-
Albani D, Roiter I, Artuso V, et al. Presenilin-1 mutation E318G and familial Alzheimer's disease in the Italian population. Neurobiol Aging. 2007;28:1682-1688.
-
(2007)
Neurobiol Aging
, vol.28
, pp. 1682-1688
-
-
Albani, D.1
Roiter, I.2
Artuso, V.3
-
45
-
-
0028350675
-
APOE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease
-
Van Broeckhoven C, Backhovens H, Cruts M, et al. APOE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease. Neurosci Lett. 2004;169:179-180.
-
(2004)
Neurosci Lett
, vol.169
, pp. 179-180
-
-
Van Broeckhoven, C.1
Backhovens, H.2
Cruts, M.3
-
46
-
-
11244274006
-
APOE and other loci affect age-at-onset in Alzheimer's disease families with PS2 Mutation
-
Wijsman EM, Daw EW, Yu X, et al. APOE and other loci affect age-at-onset in Alzheimer's disease families with PS2 mutation. Am J Med Genet B Neuropsychiatr Genet. 2005; 132B:14-20.
-
(2005)
Am J Med Genet B Neuropsychiatr Genet
, vol.132 B
, pp. 14-20
-
-
Wijsman, E.M.1
Daw, E.W.2
Yu, X.3
|