-
1
-
-
0035479323
-
Systematic genetic study of Alzheimer disease in Latin America: Mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia
-
Arango, D., M. Cruts, O. Torres, H. Backhovens, M. L. Serrano, E. Villareal, et al. 2001. Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia. Am. J. Med. Genet. 103:138–143.
-
(2001)
Am. J. Med. Genet.
, vol.103
, pp. 138-143
-
-
Arango, D.1
Cruts, M.2
Torres, O.3
Backhovens, H.4
Serrano, M.L.5
Villareal, E.6
-
2
-
-
0035860986
-
A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families
-
Athan, E. S., J. Williamson, A. Ciappa, V. Santana, S. N. Romas, J. H. Lee, et al. 2001. A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. JAMA 286:2257– 2263.
-
(2001)
JAMA
, vol.286
, pp. 2257-2263
-
-
Athan, E.S.1
Williamson, J.2
Ciappa, A.3
Santana, V.4
Romas, S.N.5
Lee, J.H.6
-
3
-
-
15244341378
-
Familial Alzheimer’s disease presenilin 1 mutations cause alterations in the conformation of presenilin and interactions with amyloid precursor protein
-
Berezovska, O., A. Lleo, L. D. Herl, M. P. Frosch, E. A. Stern, B. J. Bacskai, et al. 2005. Familial Alzheimer’s disease presenilin 1 mutations cause alterations in the conformation of presenilin and interactions with amyloid precursor protein. J. Neurosci. 25:3009–3017.
-
(2005)
J. Neurosci.
, vol.25
, pp. 3009-3017
-
-
Berezovska, O.1
Lleo, A.2
Herl, L.D.3
Frosch, M.P.4
Stern, E.A.5
Bacskai, B.J.6
-
4
-
-
0036818747
-
A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease
-
Bertoli Avella, A. M., B. Marcheco Teruel, J. J. Llibre Rodriguez, N. Gomez Viera, I. Borrajero Martinez, E. A. Severijnen, et al. 2002. A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease. Neurogenetics 4:97–104.
-
(2002)
Neurogenetics
, vol.4
, pp. 97-104
-
-
Bertoli Avella, A.M.1
Marcheco Teruel, B.2
Llibre Rodriguez, J.J.3
Gomez Viera, N.4
Borrajero Martinez, I.5
Severijnen, E.A.6
-
5
-
-
0029411573
-
Presenilins and Alzheimer disease
-
van Broeckhoven, C. 1995. Presenilins and Alzheimer disease. Nat. Genet. 11:230–232.
-
(1995)
Nat. Genet.
, vol.11
, pp. 230-232
-
-
Broeckhoven, C.1
-
6
-
-
0027031612
-
Mapping of a gene predisposing to early-onset Alzheimer’s disease to chromosome 14q24.3
-
van Broeckhoven, C., H. Backhovens, M. Cruts, G. de Winter, M. Bruyland, P. Cras, et al. 1992. Mapping of a gene predisposing to early-onset Alzheimer’s disease to chromosome 14q24.3. Nat. Genet. 2:335–339.
-
(1992)
Nat. Genet
, vol.2
, pp. 335-339
-
-
van Broeckhoven, C.1
Backhovens, H.2
Cruts, M.3
de Winter, G.4
Bruyland, M.5
Cras, P.6
-
7
-
-
84856541277
-
Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer’s disease families
-
Cruchaga, C., G. Haller, S. Chakraverty, K. Mayo, F. L. Vallania, R. D. Mitra, et al. 2012. Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer’s disease families. PLoS One 7:e31039.
-
(2012)
Plos One
, vol.7
-
-
Cruchaga, C.1
Haller, G.2
Chakraverty, S.3
Mayo, K.4
Vallania, F.L.5
Mitra, R.D.6
-
8
-
-
0032408458
-
Molecular genetics of Alzheimer’s disease
-
Cruts, M., and C. van Broeckhoven. 1998a. Molecular genetics of Alzheimer’s disease. Ann. Med. 30:560–565.
-
(1998)
Ann. Med.
, vol.30
, pp. 560-565
-
-
Cruts, M.1
van Broeckhoven, C.2
-
9
-
-
0031938304
-
Presenilin mutations in Alzheimer’s disease
-
Cruts, M., and C. van Broeckhoven. 1998b. Presenilin mutations in Alzheimer’s disease. Hum. Mutat. 11:183–190.
-
(1998)
Hum. Mutat.
, vol.11
, pp. 183-190
-
-
Cruts, M.1
van Broeckhoven, C.2
-
10
-
-
84865176138
-
Locus-specific mutation databases for neurodegenerative brain diseases
-
Cruts, M., J. Theuns, and C. van Broeckhoven. 2012. Locus-specific mutation databases for neurodegenerative brain diseases. Hum. Mutat. 33:1340–1344.
-
(2012)
Hum. Mutat.
, vol.33
, pp. 1340-1344
-
-
Cruts, M.1
Theuns, J.2
van Broeckhoven, C.3
-
11
-
-
35348875469
-
Familial early-onset dementia with tau intron 10 + 16 mutation with clinical features similar to those of Alzheimer disease
-
Doran, M., D. G. du Plessis, E. J. Ghadiali, D. M. Mann, S. Pickering-Brown, and A. J. Larner. 2007. Familial early-onset dementia with tau intron 10 + 16 mutation with clinical features similar to those of Alzheimer disease. Arch. Neurol. 64:1535–1539.
-
(2007)
Arch. Neurol.
, vol.64
, pp. 1535-1539
-
-
Doran, M.1
du Plessis, D.G.2
Ghadiali, E.J.3
Mann, D.M.4
Pickering-Brown, S.5
Larner, A.J.6
-
12
-
-
75149192605
-
Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer’s disease
-
Fenoglio, C., D. Galimberti, F. Cortini, J. S. Kauwe, C. Cruchaga, E. Venturelli, et al. 2009. Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer’s disease. J. Alzheimers Dis. 18:603–612.
-
(2009)
J. Alzheimers Dis.
, vol.18
, pp. 603-612
-
-
Fenoglio, C.1
Galimberti, D.2
Cortini, F.3
Kauwe, J.S.4
Cruchaga, C.5
Venturelli, E.6
-
13
-
-
56749171877
-
Granulin mutations associated with frontotemporal lobar degeneration and related disorders: An update
-
Gijselinck, I., C. van Broeckhoven, and M. Cruts. 2008. Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update. Hum. Mutat. 29:1373–1386.
-
(2008)
Hum. Mutat.
, vol.29
, pp. 1373-1386
-
-
Gijselinck, I.1
van Broeckhoven, C.2
Cruts, M.3
-
14
-
-
0000874908
-
Linkage analysis in the presence of errors IV: Joint pseudomarker analysis of linkage and/or linkage disequilibrium on a mixture of pedigrees and singletons when the mode of inheritance cannot be accurately specified
-
Goring, H. H. H., and J. D. Terwilliger. 2000. Linkage analysis in the presence of errors IV: joint pseudomarker analysis of linkage and/or linkage disequilibrium on a mixture of pedigrees and singletons when the mode of inheritance cannot be accurately specified. Am. J. Hum. Genet. 66:1310–1327.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1310-1327
-
-
Goring, H.H.H.1
Terwilliger, J.D.2
-
15
-
-
0033988657
-
Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer’s disease?
-
Helisalmi, S., M. Hiltunen, A. Mannermaa, A. M. Koivisto, M. Lehtovirta, I. Alafuzoff, et al. 2000. Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer’s disease? Neurosci. Lett. 278:65–68.
-
(2000)
Neurosci. Lett.
, vol.278
, pp. 65-68
-
-
Helisalmi, S.1
Hiltunen, M.2
Mannermaa, A.3
Koivisto, A.M.4
Lehtovirta, M.5
Alafuzoff, I.6
-
16
-
-
79960858671
-
PSEUDOMARKER: A powerful program for joint linkage and/or linkage disequilibrium analysis on mixtures of singletons and related individuals
-
Hiekkalinna, T., A. A. Schaffer, B. Lambert, P. Norrgrann, H. H. H. Goring, and J. D. Terwilliger. 2011. PSEUDOMARKER: a powerful program for joint linkage and/or linkage disequilibrium analysis on mixtures of singletons and related individuals. Hum. Hered. 71:256–266.
-
(2011)
Hum. Hered.
, vol.71
, pp. 256-266
-
-
Hiekkalinna, T.1
Schaffer, A.A.2
Lambert, B.3
Norrgrann, P.4
Goring, H.H.H.5
Terwilliger, J.D.6
-
17
-
-
84868030363
-
Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer’s disease Ibero-American cohort
-
Jin, S. C., P. Pastor, B. Cooper, S. Cervantes, B. A. Benitez, C. Razquin, C. Cruchaga. 2012. Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer’s disease Ibero-American cohort. Alzheimers Res. Ther. 4:34.
-
(2012)
Alzheimers Res. Ther.
, vol.4
, pp. 34
-
-
Jin, S.C.1
Pastor, P.2
Cooper, B.3
Cervantes, S.4
Benitez, B.A.5
Razquin, C.6
Cruchaga, C.7
-
18
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar, P., S. Henikoff, and P. C. Ng. 2009. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protoc. 4:1073– 1081.
-
(2009)
Nat. Protoc.
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
19
-
-
0021271971
-
Clinical diagnosis of Alzheimer’s disease: Report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer’s Disease
-
McKhann, G., D. Drachman, M. Folstein, R. Katzman, D. Price, and E. M. Stadlan. 1984. Clinical diagnosis of Alzheimer’s disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer’s Disease. Neurology 34:939–944.
-
(1984)
Neurology
, vol.34
, pp. 939-944
-
-
McKhann, G.1
Drachman, D.2
Folstein, M.3
Katzman, R.4
Price, D.5
Stadlan, E.M.6
-
20
-
-
0031820213
-
Presenilin 1 Met146Leu variant due to an A –> T transversion in an early-onset familial Alzheimer’s disease pedigree from Argentina
-
Morelli, L., M. I. Prat, E. Levy, C. A. Mangone, and E. M. Castano. 1998. Presenilin 1 Met146Leu variant due to an A –> T transversion in an early-onset familial Alzheimer’s disease pedigree from Argentina. Clin. Genet. 53:469–473.
-
(1998)
Clin. Genet.
, vol.53
, pp. 469-473
-
-
Morelli, L.1
Prat, M.I.2
Levy, E.3
Mangone, C.A.4
Castano, E.M.5
-
21
-
-
0035026704
-
Predicting deleterious amino acid substitutions
-
Ng, P. C., and S. Henikoff. 2001. Predicting deleterious amino acid substitutions. Genome Res. 11:863–874.
-
(2001)
Genome Res
, vol.11
, pp. 863-874
-
-
Ng, P.C.1
Henikoff, S.2
-
23
-
-
0242353016
-
Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe
-
Rademakers, R., B. Dermaut, K. Peeters, M. Cruts, P. Heutink, A. Goate, et al. 2003b. Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe. Hum. Mutat. 22:409– 411.
-
(2003)
Hum. Mutat.
, vol.22
, pp. 409-411
-
-
Rademakers, R.1
Dermaut, B.2
Peeters, K.3
Cruts, M.4
Heutink, P.5
Goate, A.6
-
24
-
-
0031790549
-
A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease
-
Ramirez-Duenas, M. G., E. A. Rogaeva, C. A. Leal, C. Lin, G. A. Ramirez-Casillas, J. A. Hernandez-Romo, et al. 1998. A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease. Ann. Genet. 41:149–153.
-
(1998)
Ann. Genet.
, vol.41
, pp. 149-153
-
-
Ramirez-Duenas, M.G.1
Rogaeva, E.A.2
Leal, C.A.3
Lin, C.4
Ramirez-Casillas, G.A.5
Hernandez-Romo, J.A.6
-
25
-
-
0035964209
-
Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations
-
Rogaeva, E. A., K. C. Fafel, Y. Q. Song, H. Medeiros, C. Sato, Y. Liang, et al. 2001. Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology 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
-
26
-
-
0029004341
-
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer’s disease
-
Sherrington, R., E. I. Rogaev, Y. Liang, E. A. Rogaeva, G. Levesque, M. Ikeda, et al. 1995. Cloning of a gene bearing missense mutations 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
-
27
-
-
13844255273
-
Molecular biology and genetics of Alzheimer’s disease
-
St George-Hyslop, P. H., and A. Petit. 2005. Molecular biology and genetics of Alzheimer’s disease. C R Biol. 328:119–130.
-
(2005)
C R Biol
, vol.328
, pp. 119-130
-
-
St George-Hyslop, P.H.1
Petit, A.2
-
28
-
-
0035950188
-
New frontiers in Alzheimer’s disease genetics
-
Tanzi, R. E., and L. Bertram. 2001. New frontiers in Alzheimer’s disease genetics. Neuron 32:181–184.
-
(2001)
Neuron
, vol.32
, pp. 181-184
-
-
Tanzi, R.E.1
Bertram, L.2
-
29
-
-
79952256613
-
Genome-wide association of familial late-onset Alzheimer’s disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE
-
Wijsman, E. M., N. D. Pankratz, Y. Choi, J. H. Rothstein, K. M. Faber, R. Cheng, et al. 2011. Genome-wide association of familial late-onset Alzheimer’s disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE. PLoS Genet. 7:e1001308.
-
(2011)
Plos Genet
, vol.7
-
-
Wijsman, E.M.1
Pankratz, N.D.2
Choi, Y.3
Rothstein, J.H.4
Faber, K.M.5
Cheng, R.6
-
30
-
-
84980052138
-
C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic
-
Wojtas, A., K. A. Heggeli, N. Finch, M. Baker, M. Dejesus-Hernandez, S. G. Younkin, et al. 2012. C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic. Am. J. Neurodegener. Dis. 1:107–118.
-
(2012)
Am. J. Neurodegener. Dis.
, vol.1
, pp. 107-118
-
-
Wojtas, A.1
Heggeli, K.A.2
Finch, N.3
Baker, M.4
Dejesus-Hernandez, M.5
Younkin, S.G.6
|