-
1
-
-
0032706357
-
DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: two novel mutations
-
Aldudo J., Bullido M.J., Valdivieso F. DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: two novel mutations. Hum. Mutat. 1999, 14:433-439.
-
(1999)
Hum. Mutat.
, vol.14
, pp. 433-439
-
-
Aldudo, J.1
Bullido, M.J.2
Valdivieso, F.3
-
2
-
-
0036194338
-
Apresenilin 1 mutation associated with familial frontotemporal dementia inhibits gamma-secretase cleavage of APP and notch
-
Amtul Z., Lewis P.A., Piper S., Crook R., Baker M., Findlay K., Singleton A., Hogg M., Younkin L., Younkin S.G., Hardy J., Hutton M., Boeve B.F., Tang-Wai D., Golde T.E. Apresenilin 1 mutation associated with familial frontotemporal dementia inhibits gamma-secretase cleavage of APP and notch. Neurobiol. Dis. 2002, 9:269-273.
-
(2002)
Neurobiol. Dis.
, vol.9
, pp. 269-273
-
-
Amtul, Z.1
Lewis, P.A.2
Piper, S.3
Crook, R.4
Baker, M.5
Findlay, K.6
Singleton, A.7
Hogg, M.8
Younkin, L.9
Younkin, S.G.10
Hardy, J.11
Hutton, M.12
Boeve, B.F.13
Tang-Wai, D.14
Golde, T.E.15
-
3
-
-
77953886784
-
Current status on Alzheimer disease molecular genetics: from past, to present, to future
-
Bettens K., Sleegers K., Van Broeckhoven C. Current status on Alzheimer disease molecular genetics: from past, to present, to future. Hum. Mol. Genet. 2010, 19:R4-R11.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. R4-R11
-
-
Bettens, K.1
Sleegers, K.2
Van Broeckhoven, C.3
-
4
-
-
84887244193
-
No association of the LRRK2 genetic variants with Alzheimer's disease in Han Chinese individuals
-
Bi R., Zhao L., Zhang C., Lu W., Feng J.Q., Wang Y., Ni J., Zhang J., Li G.D., Hu Q.X., Wang D., Yao Y.G., Li T. No association of the LRRK2 genetic variants with Alzheimer's disease in Han Chinese individuals. Neurobiol. Aging 2014, 35:444.e5-444.e9.
-
(2014)
Neurobiol. Aging
, vol.35
, pp. 444.e5-444.e9
-
-
Bi, R.1
Zhao, L.2
Zhang, C.3
Lu, W.4
Feng, J.Q.5
Wang, Y.6
Ni, J.7
Zhang, J.8
Li, G.D.9
Hu, Q.X.10
Wang, D.11
Yao, Y.G.12
Li, T.13
-
5
-
-
0033358671
-
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum
-
Campion D., Dumanchin C., Hannequin D., Dubois B., Belliard S., Puel M., Thomas-Anterion C., Michon A., Martin C., Charbonnier F., Raux G., Camuzat A., Penet C., Mesnage V., Martinez M., Clerget-Darpoux F., Brice A., Frebourg T. 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
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
-
6
-
-
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
-
7
-
-
77950529014
-
Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP
-
Guerreiro R.J., Baquero M., Blesa R., Boada M., Bras J.M., Bullido M.J., Calado A., Crook R., Ferreira C., Frank A., Gomez-Isla T., Hernandez I., Lleo A., Machado A., Martinez-Lage P., Masdeu J., Molina-Porcel L., Molinuevo J.L., Pastor P., Perez-Tur J., Relvas R., Oliveira C.R., Ribeiro M.H., Rogaeva E., Sa A., Samaranch L., Sanchez-Valle R., Santana I., Tarraga L., Valdivieso F., Singleton A., Hardy J., Clarimon J. Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiol. Aging 2010, 31:725-731.
-
(2010)
Neurobiol. Aging
, vol.31
, pp. 725-731
-
-
Guerreiro, R.J.1
Baquero, M.2
Blesa, R.3
Boada, M.4
Bras, J.M.5
Bullido, M.J.6
Calado, A.7
Crook, R.8
Ferreira, C.9
Frank, A.10
Gomez-Isla, T.11
Hernandez, I.12
Lleo, A.13
Machado, A.14
Martinez-Lage, P.15
Masdeu, J.16
Molina-Porcel, L.17
Molinuevo, J.L.18
Pastor, P.19
Perez-Tur, J.20
Relvas, R.21
Oliveira, C.R.22
Ribeiro, M.H.23
Rogaeva, E.24
Sa, A.25
Samaranch, L.26
Sanchez-Valle, R.27
Santana, I.28
Tarraga, L.29
Valdivieso, F.30
Singleton, A.31
Hardy, J.32
Clarimon, J.33
more..
-
8
-
-
0035798271
-
Anovel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies
-
Houlden H., Crook R., Dolan R.J., McLaughlin J., Revesz T., Hardy J. Anovel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies. Neurosci. Lett. 2001, 313:93-95.
-
(2001)
Neurosci. Lett.
, vol.313
, pp. 93-95
-
-
Houlden, H.1
Crook, R.2
Dolan, R.J.3
McLaughlin, J.4
Revesz, T.5
Hardy, J.6
-
9
-
-
84899983353
-
Mutational analysis in early-onset familial Alzheimer's disease in Mainland China
-
Jiao B., Tang B., Liu X., Xu J., Wang Y., Zhou L., Zhang F., Yan X., Zhou Y., Shen L. Mutational analysis in early-onset familial Alzheimer's disease in Mainland China. Neurobiol. Aging 2014, 35:1957.e1-1957.e6.
-
(2014)
Neurobiol. Aging
, vol.35
, pp. 1957.e1-1957.e6
-
-
Jiao, B.1
Tang, B.2
Liu, X.3
Xu, J.4
Wang, Y.5
Zhou, L.6
Zhang, F.7
Yan, X.8
Zhou, Y.9
Shen, L.10
-
10
-
-
84903821261
-
Anovel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer's disease in a Chinese Han family
-
Niu F., Yu S., Zhang Z., Yi X., Ye L., Tang W., Qiu C., Wen H., Sun Y., Gao J., Guo Y. Anovel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer's disease in a Chinese Han family. Neurobiol. Aging 2014, 35:2420.e1-2420.e5.
-
(2014)
Neurobiol. Aging
, vol.35
, pp. 2420.e1-2420.e5
-
-
Niu, F.1
Yu, S.2
Zhang, Z.3
Yi, X.4
Ye, L.5
Tang, W.6
Qiu, C.7
Wen, H.8
Sun, Y.9
Gao, J.10
Guo, Y.11
-
11
-
-
43449095757
-
Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer's disease
-
Park H.K., Na D.L., Lee J.H., Kim J.W., Ki C.S. Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer's disease. J.Korean Med. Sci. 2008, 23:213-217.
-
(2008)
J.Korean Med. Sci.
, vol.23
, pp. 213-217
-
-
Park, H.K.1
Na, D.L.2
Lee, J.H.3
Kim, J.W.4
Ki, C.S.5
-
12
-
-
84922845253
-
Novel APP K724M mutation causes Chinese early-onset familial Alzheimer's disease and increases amyloid-beta42 to amyloid-beta40 ratio
-
Peng X.L., Hou L., Xu S.H., Hua Y., Zhou S.J., Zhang Y., Zheng Y.P., Fu Y.H., Xu Q., Zhang L.S., Wang J., Guan X.T., He J.S. Novel APP K724M mutation causes Chinese early-onset familial Alzheimer's disease and increases amyloid-beta42 to amyloid-beta40 ratio. Neurobiol. Aging 2014, 35:2657.e1-2657.e6.
-
(2014)
Neurobiol. Aging
, vol.35
, pp. 2657.e1-2657.e6
-
-
Peng, X.L.1
Hou, L.2
Xu, S.H.3
Hua, Y.4
Zhou, S.J.5
Zhang, Y.6
Zheng, Y.P.7
Fu, Y.H.8
Xu, Q.9
Zhang, L.S.10
Wang, J.11
Guan, X.T.12
He, J.S.13
-
13
-
-
0344464874
-
Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu)
-
Portet F., Dauvilliers Y., Campion D., Raux G., Hauw J.J., Lyon-Caen O., Camu W., Touchon J. Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu). Neurology 2003, 61:1136-1137.
-
(2003)
Neurology
, vol.61
, pp. 1136-1137
-
-
Portet, F.1
Dauvilliers, Y.2
Campion, D.3
Raux, G.4
Hauw, J.J.5
Lyon-Caen, O.6
Camu, W.7
Touchon, J.8
-
14
-
-
26944475934
-
Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update
-
Raux G., Guyant-Marechal L., Martin C., Bou J., Penet C., Brice A., Hannequin D., Frebourg T., Campion D. Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update. J.Med. Genet. 2005, 42:793-795.
-
(2005)
J.Med. Genet.
, vol.42
, pp. 793-795
-
-
Raux, G.1
Guyant-Marechal, L.2
Martin, C.3
Bou, J.4
Penet, C.5
Brice, A.6
Hannequin, D.7
Frebourg, T.8
Campion, D.9
-
15
-
-
0035964209
-
Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations
-
Rogaeva E.A., Fafel K.C., Song Y.Q., Medeiros H., Sato C., Liang Y., Richard E., Rogaev E.I., Frommelt P., Sadovnick A.D., Meschino W., Rockwood K., Boss M.A., Mayeux R., St George-Hyslop P. Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology 2001, 57:621-625.
-
(2001)
Neurology
, vol.57
, pp. 621-625
-
-
Rogaeva, E.A.1
Fafel, K.C.2
Song, Y.Q.3
Medeiros, H.4
Sato, C.5
Liang, Y.6
Richard, E.7
Rogaev, E.I.8
Frommelt, P.9
Sadovnick, A.D.10
Meschino, W.11
Rockwood, K.12
Boss, M.A.13
Mayeux, R.14
St George-Hyslop, P.15
-
16
-
-
18444382665
-
Familial frontotemporal dementia associated with a novel presenilin-1 mutation
-
Tang-Wai D., Lewis P., Boeve B., Hutton M., Golde T., Baker M., Hardy J., Michels V., Ivnik R., Jack C., Petersen R. Familial frontotemporal dementia associated with a novel presenilin-1 mutation. Demen. Geriatr. Cogn. Disord. 2002, 14:13-21.
-
(2002)
Demen. Geriatr. Cogn. Disord.
, vol.14
, pp. 13-21
-
-
Tang-Wai, D.1
Lewis, P.2
Boeve, B.3
Hutton, M.4
Golde, T.5
Baker, M.6
Hardy, J.7
Michels, V.8
Ivnik, R.9
Jack, C.10
Petersen, R.11
-
17
-
-
84863300949
-
Early-onset familial Alzheimer's disease (EOFAD)
-
Wu L., Rosa-Neto P., Hsiung G.Y., Sadovnick A.D., Masellis M., Black S.E., Jia J., Gauthier S. Early-onset familial Alzheimer's disease (EOFAD). Can. J. Neurol. Sci. 2012, 39:436-445.
-
(2012)
Can. J. Neurol. Sci.
, vol.39
, pp. 436-445
-
-
Wu, L.1
Rosa-Neto, P.2
Hsiung, G.Y.3
Sadovnick, A.D.4
Masellis, M.5
Black, S.E.6
Jia, J.7
Gauthier, S.8
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