-
1
-
-
0036818747
-
A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease
-
Bertoli Avella A.M., Marcheco Teruel B., Llibre Rodriguez J.J., Gomez Viera N., Borrajero Martinez I., Severijnen E.A., Joosse M., van Duijn C.M., Heredero Baute L., Heutink P. A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease. Neurogenetics 2002, 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
Joosse, M.7
van Duijn, C.M.8
Heredero Baute, L.9
Heutink, P.10
-
2
-
-
77949423619
-
Cerebrospinal fluid and plasma biomarkers in Alzheimer disease
-
Blennow K., Hampel H., Weiner M., Zetterberg H. Cerebrospinal fluid and plasma biomarkers in Alzheimer disease. Nature Rev. Neurol. 2010, 6:131-144.
-
(2010)
Nature Rev. Neurol.
, vol.6
, pp. 131-144
-
-
Blennow, K.1
Hampel, H.2
Weiner, M.3
Zetterberg, H.4
-
3
-
-
84862829053
-
Cellular consequences of the expression of Alzheimer's disease-causing presenilin 1 mutations in human neuroblastoma (SH-SY5Y) cells
-
Boyle J.P., Hettiarachchi N.T., Wilkinson J.A., Pearson H.A., Scragg J.L., Lendon C., Al-Owais M.M., Kim C.B., Myers D.M., Warburton P., Peers C. Cellular consequences of the expression of Alzheimer's disease-causing presenilin 1 mutations in human neuroblastoma (SH-SY5Y) cells. Brain Res. 2012, 1443:75-88.
-
(2012)
Brain Res.
, vol.1443
, pp. 75-88
-
-
Boyle, J.P.1
Hettiarachchi, N.T.2
Wilkinson, J.A.3
Pearson, H.A.4
Scragg, J.L.5
Lendon, C.6
Al-Owais, M.M.7
Kim, C.B.8
Myers, D.M.9
Warburton, P.10
Peers, C.11
-
4
-
-
84861194622
-
The mechanism of gamma-secretase dysfunction in familial Alzheimer disease
-
Chavez-Gutierrez L., Bammens L., Benilova I., Vandersteen A., Benurwar M., Borgers M., Lismont S., Zhou L., Van Cleynenbreugel S., Esselmann H., Wiltfang J., Serneels L., Karran E., Gijsen H., Schymkowitz J., Rousseau F., Broersen K., De Strooper B. The mechanism of gamma-secretase dysfunction in familial Alzheimer disease. EMBO J. 2012, 31:2261-2274.
-
(2012)
EMBO J.
, vol.31
, pp. 2261-2274
-
-
Chavez-Gutierrez, L.1
Bammens, L.2
Benilova, I.3
Vandersteen, A.4
Benurwar, M.5
Borgers, M.6
Lismont, S.7
Zhou, L.8
Van Cleynenbreugel, S.9
Esselmann, H.10
Wiltfang, J.11
Serneels, L.12
Karran, E.13
Gijsen, H.14
Schymkowitz, J.15
Rousseau, F.16
Broersen, K.17
De Strooper, B.18
-
5
-
-
0037431082
-
Aph-1, Pen-2, and nicastrin with presenilin generate an active gamma-Secretase complex
-
De Strooper B. Aph-1, Pen-2, and nicastrin with presenilin generate an active gamma-Secretase complex. Neuron 2003, 38:9-12.
-
(2003)
Neuron
, vol.38
, pp. 9-12
-
-
De Strooper, B.1
-
6
-
-
34447322271
-
Research criteria for the diagnosis of Alzheimer's disease: revising the NINCDS-ADRDA criteria
-
Dubois B., Feldman H.H., Jacova C., Dekosky S.T., Barberger-Gateau P., Cummings J., Delacourte A., Galasko D., Gauthier S., Jicha G., Meguro K., O'Brien J., Pasquier F., Robert P., Rossor M., Salloway S., Stern Y., Visser P.J., Scheltens P. Research criteria for the diagnosis of Alzheimer's disease: revising the NINCDS-ADRDA criteria. Lancet Neurol. 2007, 6:734-746.
-
(2007)
Lancet Neurol.
, vol.6
, pp. 734-746
-
-
Dubois, B.1
Feldman, H.H.2
Jacova, C.3
Dekosky, S.T.4
Barberger-Gateau, P.5
Cummings, J.6
Delacourte, A.7
Galasko, D.8
Gauthier, S.9
Jicha, G.10
Meguro, K.11
O'Brien, J.12
Pasquier, F.13
Robert, P.14
Rossor, M.15
Salloway, S.16
Stern, Y.17
Visser, P.J.18
Scheltens, P.19
-
7
-
-
79451473171
-
Early detection of Alzheimer's disease with a total score of the German CERAD
-
Ehrensperger M.M., Berres M., Taylor K.I., Monsch A.U. Early detection of Alzheimer's disease with a total score of the German CERAD. J. Int. Neuropsychol. Soc. 2010, 16:910-920.
-
(2010)
J. Int. Neuropsychol. Soc.
, vol.16
, pp. 910-920
-
-
Ehrensperger, M.M.1
Berres, M.2
Taylor, K.I.3
Monsch, A.U.4
-
8
-
-
0033010135
-
A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures
-
Ezquerra M., Carnero C., Blesa R., Gelpi J.L., Ballesta F., Oliva R. A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures. Neurology 1999, 52:566-570.
-
(1999)
Neurology
, vol.52
, pp. 566-570
-
-
Ezquerra, M.1
Carnero, C.2
Blesa, R.3
Gelpi, J.L.4
Ballesta, F.5
Oliva, R.6
-
9
-
-
0034041861
-
A novel presenilin 1 mutation (Leu166Arg) associated with early-onset Alzheimer disease
-
Ezquerra M., Carnero C., Blesa R., Oliva R. A novel presenilin 1 mutation (Leu166Arg) associated with early-onset Alzheimer disease. Arch. Neurol. 2000, 57:485-488.
-
(2000)
Arch. Neurol.
, vol.57
, pp. 485-488
-
-
Ezquerra, M.1
Carnero, C.2
Blesa, R.3
Oliva, R.4
-
10
-
-
36048971705
-
Early-onset Alzheimer's disease with a de novo mutation in the presenilin 1 gene
-
Golan M.P., Styczynska M., Jozwiak K., Walecki J., Maruszak A., Pniewski J., Lugiewicz R., Filipek S., Zekanowski C., Barcikowska M. Early-onset Alzheimer's disease with a de novo mutation in the presenilin 1 gene. Exp. Neurol. 2007, 208:264-268.
-
(2007)
Exp. Neurol.
, vol.208
, pp. 264-268
-
-
Golan, M.P.1
Styczynska, M.2
Jozwiak, K.3
Walecki, J.4
Maruszak, A.5
Pniewski, J.6
Lugiewicz, R.7
Filipek, S.8
Zekanowski, C.9
Barcikowska, M.10
-
11
-
-
70449518439
-
A novel presenilin 1 mutation (Ser169del) in a Chinese family with early-onset Alzheimer's disease
-
Guo J., Wei J., Liao S., Wang L., Jiang H., Tang B. A novel presenilin 1 mutation (Ser169del) in a Chinese family with early-onset Alzheimer's disease. Neurosci. Lett. 2010, 468:34-37.
-
(2010)
Neurosci. Lett.
, vol.468
, pp. 34-37
-
-
Guo, J.1
Wei, J.2
Liao, S.3
Wang, L.4
Jiang, H.5
Tang, B.6
-
12
-
-
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
-
13
-
-
1342284214
-
DemTect: a new, sensitive cognitive screening test to support the diagnosis of mild cognitive impairment and early dementia
-
Kalbe E., Kessler J., Calabrese P., Smith R., Passmore A.P., Brand M., Bullock R. DemTect: a new, sensitive cognitive screening test to support the diagnosis of mild cognitive impairment and early dementia. Int. J. Geriatr. Psychiatry 2004, 19:136-143.
-
(2004)
Int. J. Geriatr. Psychiatry
, vol.19
, pp. 136-143
-
-
Kalbe, E.1
Kessler, J.2
Calabrese, P.3
Smith, R.4
Passmore, A.P.5
Brand, M.6
Bullock, R.7
-
14
-
-
19944426666
-
Novel PS1 mutation in a Bavarian kindred with familial Alzheimer disease
-
Klunemann H.H., Rogaeva E., Neumann M., Kretzschmar H.A., Kandel M., Toulina A., Sato C., Salehi-Rad S., Pfister K., Klein H.E., St George-Hyslop P.H. Novel PS1 mutation in a Bavarian kindred with familial Alzheimer disease. Alzheimer Dis. Assoc. Disord. 2004, 18:256-258.
-
(2004)
Alzheimer Dis. Assoc. Disord.
, vol.18
, pp. 256-258
-
-
Klunemann, H.H.1
Rogaeva, E.2
Neumann, M.3
Kretzschmar, H.A.4
Kandel, M.5
Toulina, A.6
Sato, C.7
Salehi-Rad, S.8
Pfister, K.9
Klein, H.E.10
St George-Hyslop, P.H.11
-
15
-
-
34347363135
-
A novel presenilin 1 deletion (p.L166del) associated with early onset familial Alzheimer's disease
-
Knight W.D., Kennedy J., Mead S., Rossor M.N., Beck J., Collinge J., Mummery C. A novel presenilin 1 deletion (p.L166del) associated with early onset familial Alzheimer's disease. Eur. J. Neurol. 2007, 14:829-831.
-
(2007)
Eur. J. Neurol.
, vol.14
, pp. 829-831
-
-
Knight, W.D.1
Kennedy, J.2
Mead, S.3
Rossor, M.N.4
Beck, J.5
Collinge, J.6
Mummery, C.7
-
16
-
-
79955374942
-
Presenilin-1 mutation associated with amnesia, ataxia, and medial temporal lobe T2 signal changes
-
Langheinrich T.C., Romanowski C.A., Wharton S., Hadjivassiliou M. Presenilin-1 mutation associated with amnesia, ataxia, and medial temporal lobe T2 signal changes. Neurology 2011, 76:1435-1436.
-
(2011)
Neurology
, vol.76
, pp. 1435-1436
-
-
Langheinrich, T.C.1
Romanowski, C.A.2
Wharton, S.3
Hadjivassiliou, M.4
-
17
-
-
32844465332
-
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene
-
Larner A.J., Doran M. Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene. J. Neurol. 2006, 253:139-158.
-
(2006)
J. Neurol.
, vol.253
, pp. 139-158
-
-
Larner, A.J.1
Doran, M.2
-
18
-
-
67849085401
-
Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update
-
Larner A.J., Doran M. Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update. J. Alzheimers Dis. 2009, 17:259-265.
-
(2009)
J. Alzheimers Dis.
, vol.17
, pp. 259-265
-
-
Larner, A.J.1
Doran, M.2
-
19
-
-
0038293423
-
Early-onset Alzheimer's disease with presenilin-1 M139 V mutation: clinical, neuropsychological and neuropathological study
-
Larner A.J., du Plessis D.G. Early-onset Alzheimer's disease with presenilin-1 M139 V mutation: clinical, neuropsychological and neuropathological study. Eur. J. Neurol. 2003, 10:319-323.
-
(2003)
Eur. J. Neurol.
, vol.10
, pp. 319-323
-
-
Larner, A.J.1
du Plessis, D.G.2
-
20
-
-
80052311901
-
Neuropsychiatric symptoms in Alzheimer's disease
-
Lyketsos C.G., Carrillo M.C., Ryan J.M., Khachaturian A.S., Trzepacz P., Amatniek J., Cedarbaum J., Brashear R., Miller D.S. Neuropsychiatric symptoms in Alzheimer's disease. Alzheimer's Dement. 2011, 7:532-539.
-
(2011)
Alzheimer's Dement.
, vol.7
, pp. 532-539
-
-
Lyketsos, C.G.1
Carrillo, M.C.2
Ryan, J.M.3
Khachaturian, A.S.4
Trzepacz, P.5
Amatniek, J.6
Cedarbaum, J.7
Brashear, R.8
Miller, D.S.9
-
21
-
-
33747878592
-
Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations
-
Mendez M.F., McMurtray A. Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations. Am. J. Alzheimers Dis. Other Demen. 2006, 21:281-286.
-
(2006)
Am. J. Alzheimers Dis. Other Demen.
, vol.21
, pp. 281-286
-
-
Mendez, M.F.1
McMurtray, A.2
-
22
-
-
0032521394
-
Incidence and risk of dementia. The Rotterdam study
-
Ott A., Breteler M.M., van Harskamp F., Stijnen T., Hofman A. Incidence and risk of dementia. The Rotterdam study. Am. J. Epidemiol. 1998, 147:574-580.
-
(1998)
Am. J. Epidemiol.
, vol.147
, pp. 574-580
-
-
Ott, A.1
Breteler, M.M.2
van Harskamp, F.3
Stijnen, T.4
Hofman, A.5
-
23
-
-
34249099116
-
Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype
-
Piccini A., Zanusso G., Borghi R., Noviello C., Monaco S., Russo R., Damonte G., Armirotti A., Gelati M., Giordano R., Zambenedetti P., Russo C., Ghetti B., Tabaton M. Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype. Arch. Neurol. 2007, 64:738-745.
-
(2007)
Arch. Neurol.
, vol.64
, pp. 738-745
-
-
Piccini, A.1
Zanusso, G.2
Borghi, R.3
Noviello, C.4
Monaco, S.5
Russo, R.6
Damonte, G.7
Armirotti, A.8
Gelati, M.9
Giordano, R.10
Zambenedetti, P.11
Russo, C.12
Ghetti, B.13
Tabaton, M.14
-
24
-
-
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
-
25
-
-
78650185596
-
Nazi action T4 euthanasia programme: historical research, individual life stories and the culture of remembrance
-
Rotzoll M., Fuchs P., Richter P., Hohendorf G. Nazi action T4 euthanasia programme: historical research, individual life stories and the culture of remembrance. Nervenarzt 2010, 81:1326-1332.
-
(2010)
Nervenarzt
, vol.81
, pp. 1326-1332
-
-
Rotzoll, M.1
Fuchs, P.2
Richter, P.3
Hohendorf, G.4
-
26
-
-
84867525450
-
Phenotypic profile of early-onset familial Alzheimer's disease caused by presenilin-1 E280A mutation
-
Sepulveda-Falla D., Glatzel M., Lopera F. Phenotypic profile of early-onset familial Alzheimer's disease caused by presenilin-1 E280A mutation. J. Alzheimers Dis. 2012, 32:1-12.
-
(2012)
J. Alzheimers Dis.
, vol.32
, pp. 1-12
-
-
Sepulveda-Falla, D.1
Glatzel, M.2
Lopera, F.3
-
27
-
-
28944432753
-
Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life
-
Snider B.J., Norton J., Coats M.A., Chakraverty S., Hou C.E., Jervis R., Lendon C.L., Goate A.M., McKeel D.W., Morris J.C. Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life. Arch. Neurol. 2005, 62:1821-1830.
-
(2005)
Arch. Neurol.
, vol.62
, pp. 1821-1830
-
-
Snider, B.J.1
Norton, J.2
Coats, M.A.3
Chakraverty, S.4
Hou, C.E.5
Jervis, R.6
Lendon, C.L.7
Goate, A.M.8
McKeel, D.W.9
Morris, J.C.10
-
28
-
-
78149282626
-
Neuropsychiatric symptoms and syndromes in a large cohort of newly diagnosed, untreated patients with Alzheimer disease
-
Spalletta G., Musicco M., Padovani A., Rozzini L., Perri R., Fadda L., Canonico V., Trequattrini A., Pettenati C., Caltagirone C., Palmer K. Neuropsychiatric symptoms and syndromes in a large cohort of newly diagnosed, untreated patients with Alzheimer disease. Am. J. Geriatr. Psychiatry 2010, 18:1026-1035.
-
(2010)
Am. J. Geriatr. Psychiatry
, vol.18
, pp. 1026-1035
-
-
Spalletta, G.1
Musicco, M.2
Padovani, A.3
Rozzini, L.4
Perri, R.5
Fadda, L.6
Canonico, V.7
Trequattrini, A.8
Pettenati, C.9
Caltagirone, C.10
Palmer, K.11
-
29
-
-
33748746861
-
Presenilin-1 maintains a nine-transmembrane topology throughout the secretory pathway
-
Spasic D., Tolia A., Dillen K., Baert V., De Strooper B., Vrijens S., Annaert W. Presenilin-1 maintains a nine-transmembrane topology throughout the secretory pathway. J. Biol. Chem. 2006, 281:26569-26577.
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 26569-26577
-
-
Spasic, D.1
Tolia, A.2
Dillen, K.3
Baert, V.4
De Strooper, B.5
Vrijens, S.6
Annaert, W.7
-
30
-
-
7844246535
-
Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease
-
Taddei K., Kwok J.B., Kril J.J., Halliday G.M., Creasey H., Hallupp M., Fisher C., Brooks W.S., Chung C., Andrews C., Masters C.L., Schofield P.R., Martins R.N. Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease. Neuroreport 1998, 9:3335-3339.
-
(1998)
Neuroreport
, vol.9
, pp. 3335-3339
-
-
Taddei, K.1
Kwok, J.B.2
Kril, J.J.3
Halliday, G.M.4
Creasey, H.5
Hallupp, M.6
Fisher, C.7
Brooks, W.S.8
Chung, C.9
Andrews, C.10
Masters, C.L.11
Schofield, P.R.12
Martins, R.N.13
-
31
-
-
0344152227
-
Identification of new presenilin gene mutations in early-onset familial Alzheimer disease
-
Tedde A., Nacmias B., Ciantelli M., Forleo P., Cellini E., Bagnoli S., Piccini C., Caffarra P., Ghidoni E., Paganini M., Bracco L., Sorbi S. Identification of new presenilin gene mutations in early-onset familial Alzheimer disease. Arch. Neurol. 2003, 60:1541-1544.
-
(2003)
Arch. Neurol.
, vol.60
, pp. 1541-1544
-
-
Tedde, A.1
Nacmias, B.2
Ciantelli, M.3
Forleo, P.4
Cellini, E.5
Bagnoli, S.6
Piccini, C.7
Caffarra, P.8
Ghidoni, E.9
Paganini, M.10
Bracco, L.11
Sorbi, S.12
-
32
-
-
0023833603
-
The NINCDS-ADRDA Work Group criteria for the clinical diagnosis of probable Alzheimer's disease: a clinicopathologic study of 57 cases
-
Tierney M.C., Fisher R.H., Lewis A.J., Zorzitto M.L., Snow W.G., Reid D.W., Nieuwstraten P. The NINCDS-ADRDA Work Group criteria for the clinical diagnosis of probable Alzheimer's disease: a clinicopathologic study of 57 cases. Neurology 1988, 38:359-364.
-
(1988)
Neurology
, vol.38
, pp. 359-364
-
-
Tierney, M.C.1
Fisher, R.H.2
Lewis, A.J.3
Zorzitto, M.L.4
Snow, W.G.5
Reid, D.W.6
Nieuwstraten, P.7
-
33
-
-
63649118865
-
Structure and function of gamma-secretase
-
Tolia A., De Strooper B. Structure and function of gamma-secretase. Semin. Cell Dev. Biol. 2009, 20:211-218.
-
(2009)
Semin. Cell Dev. Biol.
, vol.20
, pp. 211-218
-
-
Tolia, A.1
De Strooper, B.2
|