-
1
-
-
0028812820
-
Mutations of the presenilin 1 gene in families with early-onset Alzheimer's disease
-
Campion D, Flaman J-M, Brice A, Hannequin D, Dubois B, Martin C, Moreau V, Charbonnier F, Didierjean O, Tardieu S, Penet C, Puel M, Pasquier F, Le Doze F, Bellis G, Calenda A, Heilig R, Martinez M, Mallet J, Bellis M, Clerget-Darpoux F, Agid Y, Frebourg T (1995) Mutations of the presenilin 1 gene in families with early-onset Alzheimer's disease. Hum Mol Genet 4:2373-2377
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2373-2377
-
-
Campion, D.1
Flaman, J.-M.2
Brice, A.3
Hannequin, D.4
Dubois, B.5
Martin, C.6
Moreau, V.7
Charbonnier, F.8
Didierjean, O.9
Tardieu, S.10
Penet, C.11
Puel, M.12
Pasquier, F.13
Le Doze, F.14
Bellis, G.15
Calenda, A.16
Heilig, R.17
Martinez, M.18
Mallet, J.19
Bellis, M.20
Clerget-Darpoux, F.21
Agid, Y.22
Frebourg, T.23
more..
-
2
-
-
0029115555
-
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families
-
Clark RF, Hutton M, Fuldner RA, Froelich S, Karran E, Talbot C, Crook R, Lendon C, Prihar G, He C, Korenblat K, Martinez A, Wragg M, Busfield F, Behrens MI, Myers A, Norton J, Morris J, Mehta N, Pearson C, Lincoln S, Baker M, Duff K, Zehr C, Perez-Tur J, Houlden H, Ruiz A, Ossa J, Lopera F, Arcos M, Madrigal L, Collinge J, Humphreys C, Ashworth A, Sarner S, Fox N, Harvey R, Kennedy A, Roques P, Cline RT, Philips CA, Venter JC, Forsell L, Axelman K, Lilius L, Johnston J, Cowburn R, Viitanen M, Winblad B, Kosik K, Haltia M, Poyhonen M, Dickson D, Mann D, Neary D, Snowden J, Lantos P, Lannfelt L, Rossor M, Roberts GW, Adams MD, Hardy J, Goate A (1995) The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Nature Genet 11:219-222
-
(1995)
Nature Genet
, vol.11
, pp. 219-222
-
-
Clark, R.F.1
Hutton, M.2
Fuldner, R.A.3
Froelich, S.4
Karran, E.5
Talbot, C.6
Crook, R.7
Lendon, C.8
Prihar, G.9
He, C.10
Korenblat, K.11
Martinez, A.12
Wragg, M.13
Busfield, F.14
Behrens, M.I.15
Myers, A.16
Norton, J.17
Morris, J.18
Mehta, N.19
Pearson, C.20
Lincoln, S.21
Baker, M.22
Duff, K.23
Zehr, C.24
Perez-Tur, J.25
Houlden, H.26
Ruiz, A.27
Ossa, J.28
Lopera, F.29
Arcos, M.30
Madrigal, L.31
Collinge, J.32
Humphreys, C.33
Ashworth, A.34
Sarner, S.35
Fox, N.36
Harvey, R.37
Kennedy, A.38
Roques, P.39
Cline, R.T.40
Philips, C.A.41
Venter, J.C.42
Forsell, L.43
Axelman, K.44
Lilius, L.45
Johnston, J.46
Cowburn, R.47
Viitanen, M.48
Winblad, B.49
Kosik, K.50
Haltia, M.51
Poyhonen, M.52
Dickson, D.53
Mann, D.54
Neary, D.55
Snowden, J.56
Lantos, P.57
Lannfelt, L.58
Rossor, M.59
Roberts, G.W.60
Adams, M.D.61
Hardy, J.62
Goate, A.63
more..
-
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, De Voecht J, De Winter G, Cras P, Bruyland M, Datson N, Weissenbach J, T.den Dunnen J, Martin J-J, Hendriks L, Van Broeckhoven C (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
De Voecht, J.8
De Winter, G.9
Cras, P.10
Bruyland, M.11
Datson, N.12
Weissenbach, J.13
T.den Dunnen, J.14
Martin, J.-J.15
Hendriks, L.16
Van Broeckhoven, C.17
-
4
-
-
0028067657
-
Chromosme 14-encoded Alzheimer's disease: Genetic and clinicopathological description
-
Haltia M, Viitanen M, Sulkava R, Ala-Hurula V, Poyhonen M, Goldfarb L, Brown P, Levy E, Houlden H, Crook R, Goate A, Clark, R, Korenblat K, Pandit S, Keller HD, Lilius L, Liu L, Axelman K, Forsell L, Winblad B, Lannfelt L, Hardy J (1994) Chromosme 14-encoded Alzheimer's disease: Genetic and clinicopathological description. Ann Neurol 36:362-367
-
(1994)
Ann Neurol
, vol.36
, pp. 362-367
-
-
Haltia, M.1
Viitanen, M.2
Sulkava, R.3
Ala-Hurula, V.4
Poyhonen, M.5
Goldfarb, L.6
Brown, P.7
Levy, E.8
Houlden, H.9
Crook, R.10
Goate, A.11
Clark, R.12
Korenblat, K.13
Pandit, S.14
Keller, H.D.15
Lilius, L.16
Liu, L.17
Axelman, K.18
Forsell, L.19
Winblad, B.20
Lannfelt, L.21
Hardy, J.22
more..
-
5
-
-
0022414054
-
Diagnosis of Alzheimer's disease
-
Khatchaturian ZS (1985) Diagnosis of Alzheimer's Disease. Arch Neurol 42:1097-1105
-
(1985)
Arch Neurol
, vol.42
, pp. 1097-1105
-
-
Khatchaturian, Z.S.1
-
6
-
-
13344282063
-
Alzheimer-associated presenilins 1 and 2: Neuronal expression in brain and localization to intracellular membranes in mammalian cells
-
Kovacs DM, Fausett HJ, Page KJ, Kim T-W, Moir RD, Merriam DE, Hollister RD, Hallmark OG, Mancini R, Felsenstein KM, Hyman BT, Tanzi RE, Wasco W (1996) Alzheimer-associated presenilins 1 and 2: Neuronal expression in brain and localization to intracellular membranes in mammalian cells. Nature Med 2:224-229
-
(1996)
Nature Med
, vol.2
, pp. 224-229
-
-
Kovacs, D.M.1
Fausett, H.J.2
Page, K.J.3
Kim, T.-W.4
Moir, R.D.5
Merriam, D.E.6
Hollister, R.D.7
Hallmark, O.G.8
Mancini, R.9
Felsenstein, K.M.10
Hyman, B.T.11
Tanzi, R.E.12
Wasco, W.13
-
7
-
-
0027971051
-
Phenotype of chromosome 14-linked familial Alzheimer's disease in a large kindred
-
Lampe TH, Bird TD, Nochlin D, Nemens E, Risse SC, Sumi M, Koerker R, Leaird B, Wier M, Raskind MA (1994) Phenotype of chromosome 14-linked familial Alzheimer's disease in a large kindred. Ann Neurol 36:368-378
-
(1994)
Ann Neurol
, vol.36
, pp. 368-378
-
-
Lampe, T.H.1
Bird, T.D.2
Nochlin, D.3
Nemens, E.4
Risse, S.C.5
Sumi, M.6
Koerker, R.7
Leaird, B.8
Wier, M.9
Raskind, M.A.10
-
8
-
-
0029116848
-
Facilitation of lin-12-mediated signalling by sel-12, a caenorhabditis elegans S182 Alzheimer's disease gene
-
Levitan D, Greenwald I (1995) Facilitation of lin-12-mediated signalling by sel-12, a caenorhabditis elegans S182 Alzheimer's disease gene. Nature 377:351-354
-
(1995)
Nature
, vol.377
, pp. 351-354
-
-
Levitan, D.1
Greenwald, I.2
-
9
-
-
0029087026
-
Candidate gene for the chromosome 1 familial Alzheimer 's disease locus
-
Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu C-E, Jondro PD, Schmidt SD, Wang, K, Crowley AC, Fu Y-H, Guenette SY, Galas D, Nemens E, Wijsman EM, Bird TD, Schellenberg GD, Tanzi RE (1995) Candidate gene for the chromosome 1 familial Alzheimer 's disease locus. Science 269:973-977
-
(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
Crowley, A.C.11
Fu, Y.-H.12
Guenette, S.Y.13
Galas, D.14
Nemens, E.15
Wijsman, E.M.16
Bird, T.D.17
Schellenberg, G.D.18
Tanzi, R.E.19
-
10
-
-
0026688633
-
Mutation of a putative sperm membrane protein in caenorhabditis elegans prevents sperm differentiation but not associated meiotic divisions
-
L'Hernault SW, Arduengo PM (1992) Mutation of a putative sperm membrane protein in caenorhabditis elegans prevents sperm differentiation but not associated meiotic divisions. J Cell Biol 119:55-68
-
(1992)
J Cell Biol
, vol.119
, pp. 55-68
-
-
L'Hernault, S.W.1
Arduengo, P.M.2
-
11
-
-
9444276544
-
Amyloid (Aβ) deposition in chromosome 14-linked Alzheimer's disease: Predominance of Aβ42(43)
-
in press
-
Mann DMA, Iwatsubo T, Cairns NJ, Lantos PL, Nochlin D, Sumi SM, Bird TD, Poorkaj P, Hardy J, Hutton M, Prihar G, Crook R, Rossor MN, Haltia M (1996) Amyloid (Aβ) deposition in chromosome 14-linked Alzheimer's disease: Predominance of Aβ42(43). Ann Neurol, in press
-
(1996)
Ann Neurol
-
-
Mann, D.M.A.1
Iwatsubo, T.2
Cairns, N.J.3
Lantos, P.L.4
Nochlin, D.5
Sumi, S.M.6
Bird, T.D.7
Poorkaj, P.8
Hardy, J.9
Hutton, M.10
Prihar, G.11
Crook, R.12
Rossor, M.N.13
Haltia, M.14
-
12
-
-
0025269413
-
Distribution of messenger RNAs encoding the enzymes glutaminase, aspartate aminotransferase and glutamic acid decarboxylase in rat brain
-
Najlerahim A, Harrison PJ, Barton AJL, Heffernan J, Pearson RCA (1990) Distribution of messenger RNAs encoding the enzymes glutaminase, aspartate aminotransferase and glutamic acid decarboxylase in rat brain. Mol Brain Res 7:317-333
-
(1990)
Mol Brain Res
, vol.7
, pp. 317-333
-
-
Najlerahim, A.1
Harrison, P.J.2
Barton, A.J.L.3
Heffernan, J.4
Pearson, R.C.A.5
-
13
-
-
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, Levesque G, Ikeda M, Llang Y, Chi H, Lin C, Holman K, Tsuda T, Mar L, Sorbi S, Nacmias B, Piacentini S, Amaducci L, Chumakov I, Cohen D, Lannfelt L, Fraser PE, Kommens JM, St George-Hyslop PH (1995) 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 376:775-778
-
(1995)
Nature
, vol.376
, pp. 775-778
-
-
Rogaev, E.I.1
Sherrington, R.2
Rogaeva, E.A.3
Levesque, G.4
Ikeda, M.5
Llang, Y.6
Chi, H.7
Lin, C.8
Holman, K.9
Tsuda, T.10
Mar, L.11
Sorbi, S.12
Nacmias, B.13
Piacentini, S.14
Amaducci, L.15
Chumakov, I.16
Cohen, D.17
Lannfelt, L.18
Fraser, P.E.19
Kommens, J.M.20
St George-Hyslop, P.H.21
more..
-
14
-
-
0001682880
-
Fibroblasts from carriers of familial AD linked to chromosome 14 show increased Aβ production
-
Scheuner D, Bird T, Citron M, Lannfelt L, Schellenberg G, Selkoe D, Viitanen M, Younkin SG (1995) Fibroblasts from carriers of familial AD linked to chromosome 14 show increased Aβ production. Soc Neurosci Abstr 21:1500
-
(1995)
Soc Neurosci Abstr
, vol.21
, pp. 1500
-
-
Scheuner, D.1
Bird, T.2
Citron, M.3
Lannfelt, L.4
Schellenberg, G.5
Selkoe, D.6
Viitanen, M.7
Younkin, S.G.8
-
15
-
-
0029004341
-
Cloning of a gene bearing a missense mutation in early-onset familial Alzheimer's disease
-
Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holman K, Tsuda T, Mar L, Foncin J-F, Bruni AC, Montesi MP, Sorbi S, Rainero I, Pinessi L, Nee L, Chumakov I, Pollen D, Brookes A, Sanseau P, Polinsky RJ, Wasco W, Da Silva HAR, Haines JL, Pericak-Vance MA, Tanzi RE, Roses AD, Fraser PE, Rommens JM, St George-Hyslop PH (1995) Cloning of a gene bearing a missense mutation in early-onset familial Alzheimer's disease. Nature 375:754-760
-
(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
Tsuda, T.11
Mar, L.12
Foncin, J.-F.13
Bruni, A.C.14
Montesi, M.P.15
Sorbi, S.16
Rainero, I.17
Pinessi, L.18
Nee, L.19
Chumakov, I.20
Pollen, D.21
Brookes, A.22
Sanseau, P.23
Polinsky, R.J.24
Wasco, W.25
Da Silva, H.A.R.26
Haines, J.L.27
Pericak-Vance, M.A.28
Tanzi, R.E.29
Roses, A.D.30
Fraser, P.E.31
Rommens, J.M.32
St George-Hyslop, P.H.33
more..
-
16
-
-
0029157347
-
Missense mutation of S182 gene in Italian families with early-onset Alzheimer's disease
-
Sorbi S, Nacmias B, Forleo P, Piacentini S, Sherrington R, Rogaev E, St George-Hyslop P, Amaducci L (1995) Missense mutation of S182 gene in Italian families with early-onset Alzheimer's disease. Lancet 346:439-440
-
(1995)
Lancet
, vol.346
, pp. 439-440
-
-
Sorbi, S.1
Nacmias, B.2
Forleo, P.3
Piacentini, S.4
Sherrington, R.5
Rogaev, E.6
St George-Hyslop, P.7
Amaducci, L.8
-
17
-
-
0029670218
-
Regional and cellular presenilin 1 gene expression in human and rat tissue
-
Suzuki T, Nishiyama K, Murayama S, Yamamoto A, Sato S, Kanazawa I, Sakaki Y (1996) Regional and cellular presenilin 1 gene expression in human and rat tissue. Biochem Biophys Res Comm 219:708-713
-
(1996)
Biochem Biophys Res Comm
, vol.219
, pp. 708-713
-
-
Suzuki, T.1
Nishiyama, K.2
Murayama, S.3
Yamamoto, A.4
Sato, S.5
Kanazawa, I.6
Sakaki, Y.7
-
18
-
-
0029150218
-
Missense mutation of S182 gene in Japanese familial Alzheimer's disease
-
Tanahashi H, Mitsunaga Y, Takahashi K, Tasaki Hirokazu T, Watanabe S, Tabira T (1995) Missense mutation of S182 gene in Japanese familial Alzheimer's disease. Lancet 346:440
-
(1995)
Lancet
, vol.346
, pp. 440
-
-
Tanahashi, H.1
Mitsunaga, Y.2
Takahashi, K.3
Tasaki Hirokazu, T.4
Watanabe, S.5
Tabira, T.6
-
19
-
-
0029411573
-
Presenilins and Alzheimer disease
-
Van Broeckhoven C (1995) Presenilins and Alzheimer disease. Nature Genet 11:230-232
-
(1995)
Nature Genet
, vol.11
, pp. 230-232
-
-
Van Broeckhoven, C.1
-
20
-
-
0029052710
-
Familial Alzheimer's chromosome 14 mutations
-
Wasco W, Pettingell WP, Jondro PD, Schmidt SD, Gurubhagavatula S, Rodes L, Diblasi T, Romano DM, Guenette SY, Kovacs DM, Growdon JH, Tanzi RE (1995) Familial Alzheimer's chromosome 14 mutations. Nature Med 1:848
-
(1995)
Nature Med
, vol.1
, pp. 848
-
-
Wasco, W.1
Pettingell, W.P.2
Jondro, P.D.3
Schmidt, S.D.4
Gurubhagavatula, S.5
Rodes, L.6
Diblasi, T.7
Romano, D.M.8
Guenette, S.Y.9
Kovacs, D.M.10
Growdon, J.H.11
Tanzi, R.E.12
-
21
-
-
0030028429
-
Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease
-
Wragg M, Hutton M, Talbot C, Busfield F, Han SW, Lendon, C, Clark RF, Morris JC, Edwards D, Goate A, Pfeiffer E, Crook R, Prihar G, Phillips H, Baker M, Hardy J, Rossor M, Houlden H, Karran E, Roberts G, Craddock N (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
Busfield, F.4
Han, S.W.5
Lendon, C.6
Clark, R.F.7
Morris, J.C.8
Edwards, D.9
Goate, A.10
Pfeiffer, E.11
Crook, R.12
Prihar, G.13
Phillips, H.14
Baker, M.15
Hardy, J.16
Rossor, M.17
Houlden, H.18
Karran, E.19
Roberts, G.20
Craddock, N.21
more..
|