-
1
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
1000 Genomes Project Consortium
-
Abecasis G., Auton A., Brooks L., DePristo M., Durbin R., Handsaker R., Kang R., Marth G., McVean G. An integrated map of genetic variation from 1,092 human genomes. Nature 2012, 491:56-65. 1000 Genomes Project Consortium.
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
Abecasis, G.1
Auton, A.2
Brooks, L.3
DePristo, M.4
Durbin, R.5
Handsaker, R.6
Kang, R.7
Marth, G.8
McVean, G.9
-
2
-
-
84910005783
-
2014 Alzheimer's disease facts and figures
-
Alzheimer's Association
-
2014 Alzheimer's disease facts and figures. Alzheimers Dement. 2014, 10:e47-e92. Alzheimer's Association.
-
(2014)
Alzheimers Dement.
, vol.10
, pp. e47-e92
-
-
-
3
-
-
0036847626
-
Survival following a diagnosis of Alzheimer disease
-
Brookmeyer R., Corrada M.M., Curriero F.C., Kawas C. Survival following a diagnosis of Alzheimer disease. Arch. Neurol. 2002, 59:1764-1767.
-
(2002)
Arch. Neurol.
, vol.59
, pp. 1764-1767
-
-
Brookmeyer, R.1
Corrada, M.M.2
Curriero, F.C.3
Kawas, C.4
-
4
-
-
84865176138
-
Locus-specific mutation databases for neurodegenerative brain diseases
-
Cruts M., Theuns J., Van Broeckhoven C. Locus-specific mutation databases for neurodegenerative brain diseases. Hum. Mutat. 2012, 33:1340-1344.
-
(2012)
Hum. Mutat.
, vol.33
, pp. 1340-1344
-
-
Cruts, M.1
Theuns, J.2
Van Broeckhoven, C.3
-
5
-
-
66249120367
-
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
-
Desmet F., Hamroun D., Lalande M., Collod-Béroud G., Claustres M., Béroud C. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res. 2009, 37:e67.
-
(2009)
Nucleic Acids Res.
, vol.37
, pp. e67
-
-
Desmet, F.1
Hamroun, D.2
Lalande, M.3
Collod-Béroud, G.4
Claustres, M.5
Béroud, C.6
-
6
-
-
84893027063
-
Pattern of variation influencing antipychotic treatment outcomes in South African first-episode schizophrenia patients
-
Drogemoller B., Niehause D., Chiliza B., Merwe L., Asmal L., Malhotra A., Emsley R., Warnich L. Pattern of variation influencing antipychotic treatment outcomes in South African first-episode schizophrenia patients. Pharmacogenomics 2014, 15:189-199.
-
(2014)
Pharmacogenomics
, vol.15
, pp. 189-199
-
-
Drogemoller, B.1
Niehause, D.2
Chiliza, B.3
Merwe, L.4
Asmal, L.5
Malhotra, A.6
Emsley, R.7
Warnich, L.8
-
7
-
-
0026088977
-
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
-
Goate A., Chartier-Harlin M.C., Mullan M., Brown J., Crawford F., Fidani L., Guiffra L., Haynest A., Irving N., James L., Mant R., Newton P., Rooke K., Roques P., Talbot C., Pericak-Vance M., Roses A., Williamson R., Rosser M., Owen M., Hardy J. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nat. Lett. 1991, 349:704-706.
-
(1991)
Nat. Lett.
, 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
Guiffra, L.7
Haynest, A.8
Irving, N.9
James, L.10
Mant, R.11
Newton, P.12
Rooke, K.13
Roques, P.14
Talbot, C.15
Pericak-Vance, M.16
Roses, A.17
Williamson, R.18
Rosser, M.19
Owen, M.20
Hardy, J.21
more..
-
8
-
-
0037469171
-
Early onset familial Alzheimer's disease: mutation frequency in 31 families
-
Janssen J.C., Beck J.A., Campbell T.A., Dickinson A., Fox N.C., Harvey R.J., Houlden H., Rossor M.N., Collinge J. 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
Dickinson, A.4
Fox, N.C.5
Harvey, R.J.6
Houlden, H.7
Rossor, M.N.8
Collinge, J.9
-
9
-
-
0026733343
-
Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region
-
Kamino K., Orr H., Payami H., Wijsman M., Olonson M., Pulst S., Anderson L., O'dahl S., Nemens E., White J. Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region. Am. J. Hum. Genet. 1992, 51:998-1014.
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 998-1014
-
-
Kamino, K.1
Orr, H.2
Payami, H.3
Wijsman, M.4
Olonson, M.5
Pulst, S.6
Anderson, L.7
O'dahl, S.8
Nemens, E.9
White, J.10
-
10
-
-
0029087026
-
Candidate gene for the chromosome 1 familial Alzheimer's disease locus
-
Levy-lahad E., Wasco W., Poorkaj P., Romano D.M., Oshima J., Pettingell W.H., Yu C., Jondro P.D., Schmidt S.D., Wang K., Crowley A.C., Fu Y., Guenette S.Y., Galas D., Nemens E., Wijsman E.M., Bird T.D., Schellenberg G.D., Tanzi R.E. 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
Romano, D.M.4
Oshima, J.5
Pettingell, W.H.6
Yu, C.7
Jondro, P.D.8
Schmidt, S.D.9
Wang, K.10
Crowley, A.C.11
Fu, Y.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
-
11
-
-
48249148310
-
Tau exon 10 alternative splicing and tauopathies
-
Liu F., Gong C.X. Tau exon 10 alternative splicing and tauopathies. Mol. Neurodegener. 2008, 3:8.
-
(2008)
Mol. Neurodegener.
, vol.3
, pp. 8
-
-
Liu, F.1
Gong, C.X.2
-
12
-
-
84923445949
-
NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases
-
Nalls M.A., Bras J., Hernandez D.G., Keller M.F., Majounie E., Renton A.E., Saad M., Jansen I., Guerreiro R., Lubbe S., Plagnol V., Gibbs J.R., Schulte C., Pankratz N., Sutherland M., Bertram L., Lill C.M., DeStefano A.L., Faroud T., Eriksson N., Tung J.Y., Edsall C., Nichols N., Brooks J., Arepalli S., Pliner H., Letson C., Heutink P., Martinez M., Gasser T., Traynor B.J., Wood N., Hardy J., Singleton A.B. NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases. Neurobiol. Aging 2015, 36:1605.e7-1605.e12.
-
(2015)
Neurobiol. Aging
, vol.36
, pp. 1605.e7-1605.e12
-
-
Nalls, M.A.1
Bras, J.2
Hernandez, D.G.3
Keller, M.F.4
Majounie, E.5
Renton, A.E.6
Saad, M.7
Jansen, I.8
Guerreiro, R.9
Lubbe, S.10
Plagnol, V.11
Gibbs, J.R.12
Schulte, C.13
Pankratz, N.14
Sutherland, M.15
Bertram, L.16
Lill, C.M.17
DeStefano, A.L.18
Faroud, T.19
Eriksson, N.20
Tung, J.Y.21
Edsall, C.22
Nichols, N.23
Brooks, J.24
Arepalli, S.25
Pliner, H.26
Letson, C.27
Heutink, P.28
Martinez, M.29
Gasser, T.30
Traynor, B.J.31
Wood, N.32
Hardy, J.33
Singleton, A.B.34
more..
-
13
-
-
84938632291
-
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer's disease: input and lessons
-
Nicolas G., Wallon D., Charbonnier C., Quenez O., Rousseau S., Richard A., Rovelet-Lecrux A., Coutant S., Le Guennec K., Bacq D., Garnier J., Olaso R., Boland A., Meyer V., Deleuze J., Munter H., Bourque G., Auld D., Montpetit A., Lathrop M., Guyant-Maréchal L., Martinaud O., Pariente J., Rollin-Sillaire A., Pasquier F., Le Ber I., Sarazin M., Croisile B., Boutoleau-Bretonnière C., Thomas-Antérion C., Paquet C., Sauvée M., Moreaud O., Gabelle A., Sellal F., Ceccaldi M., Chamard L., Blanc F., Frebourg T., Campion D., Hannequin D. Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer's disease: input and lessons. Eur. J. Hum. Genet 2015, 10.1038/ejhg.2015.173.
-
(2015)
Eur. J. Hum. Genet
-
-
Nicolas, G.1
Wallon, D.2
Charbonnier, C.3
Quenez, O.4
Rousseau, S.5
Richard, A.6
Rovelet-Lecrux, A.7
Coutant, S.8
Le Guennec, K.9
Bacq, D.10
Garnier, J.11
Olaso, R.12
Boland, A.13
Meyer, V.14
Deleuze, J.15
Munter, H.16
Bourque, G.17
Auld, D.18
Montpetit, A.19
Lathrop, M.20
Guyant-Maréchal, L.21
Martinaud, O.22
Pariente, J.23
Rollin-Sillaire, A.24
Pasquier, F.25
Le Ber, I.26
Sarazin, M.27
Croisile, B.28
Boutoleau-Bretonnière, C.29
Thomas-Antérion, C.30
Paquet, C.31
Sauvée, M.32
Moreaud, O.33
Gabelle, A.34
Sellal, F.35
Ceccaldi, M.36
Chamard, L.37
Blanc, F.38
Frebourg, T.39
Campion, D.40
Hannequin, D.41
more..
-
14
-
-
84905868699
-
Symptom onset in autosomal dominant Alzheimer disease: a systematic review and meta-analysis
-
Ryman D.C., Acosta-Baena N., Aisen P.S., Bird T., Danek A., Fox N.C., Goate A., Frommelt P., Ghetti B., Langbaum J.B.S., Lopera F., Martins R., Masters C.L., Mayeux R.P., McDade E., Moreno S., Reiman E.M., Ringman J.M., Salloway S., Schofield P.R., Sperling R., Tariot P.N., Xiong C., Morris J.C., Bateman R.J. Symptom onset in autosomal dominant Alzheimer disease: a systematic review and meta-analysis. Neurology 2014, 83:253-260.
-
(2014)
Neurology
, vol.83
, pp. 253-260
-
-
Ryman, D.C.1
Acosta-Baena, N.2
Aisen, P.S.3
Bird, T.4
Danek, A.5
Fox, N.C.6
Goate, A.7
Frommelt, P.8
Ghetti, B.9
Langbaum, J.B.S.10
Lopera, F.11
Martins, R.12
Masters, C.L.13
Mayeux, R.P.14
McDade, E.15
Moreno, S.16
Reiman, E.M.17
Ringman, J.M.18
Salloway, S.19
Schofield, P.R.20
Sperling, R.21
Tariot, P.N.22
Xiong, C.23
Morris, J.C.24
Bateman, R.J.25
more..
-
15
-
-
84903818205
-
Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease
-
Sassi C., Guerreiro R., Gibbs R., Ding J., Lupton M.K., Troakes C., Lunnon K., Al-Sarraj S., Brown K.S., Medway C., Lord J., Turton J., Mann D., Snowden J., Neary D., Harris J., Bras J., Morgan K., Powell J.F., Singleton A., Hardy J. Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease. Neurobiol. Aging 2014, 35:2422.e13-2422.e16.
-
(2014)
Neurobiol. Aging
, vol.35
, pp. 2422.e13-2422.e16
-
-
Sassi, C.1
Guerreiro, R.2
Gibbs, R.3
Ding, J.4
Lupton, M.K.5
Troakes, C.6
Lunnon, K.7
Al-Sarraj, S.8
Brown, K.S.9
Medway, C.10
Lord, J.11
Turton, J.12
Mann, D.13
Snowden, J.14
Neary, D.15
Harris, J.16
Bras, J.17
Morgan, K.18
Powell, J.F.19
Singleton, A.20
Hardy, J.21
more..
-
16
-
-
0029004341
-
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
-
Sherrington R., Rogaev E., Liang Y., Rogaeva E., Levesque G., Ikeda M., Chi H., Li G., Holman K., Tsuda T., Mar L., Foncin J.F., Bruni A., Mentesi M., Sorbi S., Raino I., Pinessi L., Nee L., Chumakov I., Pollen D., Brookes A., Sanseau P., Polinsky R., Wasco W., Silva H., Haines J., Pericak-Vance M., Tanzi R., Roses A., Fraser P., Rommens J., St George-Hyslop P. 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.2
Liang, Y.3
Rogaeva, E.4
Levesque, G.5
Ikeda, M.6
Chi, H.7
Li, G.8
Holman, K.9
Tsuda, T.10
Mar, L.11
Foncin, J.F.12
Bruni, A.13
Mentesi, M.14
Sorbi, S.15
Raino, I.16
Pinessi, L.17
Nee, L.18
Chumakov, I.19
Pollen, D.20
Brookes, A.21
Sanseau, P.22
Polinsky, R.23
Wasco, W.24
Silva, H.25
Haines, J.26
Pericak-Vance, M.27
Tanzi, R.28
Roses, A.29
Fraser, P.30
Rommens, J.31
St George-Hyslop, P.32
more..
-
17
-
-
3042852095
-
A minimal length between tau exon 10 and 11 is required for correct splicing of exon 10
-
Yu Q., Guo J., Zhou J. A minimal length between tau exon 10 and 11 is required for correct splicing of exon 10. J. Neurochem. 2004, 90:164-172.
-
(2004)
J. Neurochem.
, vol.90
, pp. 164-172
-
-
Yu, Q.1
Guo, J.2
Zhou, J.3
|