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Items: 1 to 20 of 102

1.

A preliminary study of the whole-genome expression profile of sporadic and monogenic early-onset Alzheimer's disease.

Antonell A, Lladó A, Altirriba J, Botta-Orfila T, Balasa M, Fernández M, Ferrer I, Sánchez-Valle R, Molinuevo JL.

Neurobiol Aging. 2013 Jul;34(7):1772-8. doi: 10.1016/j.neurobiolaging.2012.12.026. Epub 2013 Jan 28.

PMID:
23369545
2.

PSEN1 mutation carriers present lower cerebrospinal fluid amyoid-β42 levels than sporadic early-onset Alzheimer's disease patients but no differences in neuronal injury biomarkers.

Balasa M, Vidal-Piñeiro D, Lladó A, Antonell A, Bosch B, Castellanos F, Bargalló N, Bartres-Faz D, Molinuevo JL, Sánchez-Valle R.

J Alzheimers Dis. 2012;30(3):605-16. doi: 10.3233/JAD-2012-111949.

PMID:
22426017
3.

[Study of mutations of presenilin 1 gene in early-onset familial Alzheimers disease].

Cao L, Qiu X, Zheng J, Lin P, Wang S.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Jun;31(3):298-301. doi: 10.3760/cma.j.issn.1003-9406.2014.03.009. Chinese.

PMID:
24928006
4.

A mutation screening by DHPLC of PSEN1 and APP genes reveals no significant variation associated with the sporadic late-onset form of Alzheimer's disease.

Scacchi R, Gambina G, Moretto G, Corbo RM.

Neurosci Lett. 2007 May 18;418(3):282-5. Epub 2007 Mar 21.

PMID:
17412506
5.

Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease.

Sassi C, Guerreiro R, Gibbs R, Ding J, Lupton MK, Troakes C, Al-Sarraj S, Niblock M, Gallo JM, Adnan J, Killick R, Brown KS, Medway C, Lord J, Turton J, Bras J; Alzheimer's Research UK Consortium, Morgan K, Powell JF, Singleton A, Hardy J.

Neurobiol Aging. 2014 Dec;35(12):2881.e1-6. doi: 10.1016/j.neurobiolaging.2014.06.002. Epub 2014 Jun 16.

6.

Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life.

Snider BJ, Norton J, Coats MA, Chakraverty S, Hou CE, Jervis R, Lendon CL, Goate AM, McKeel DW Jr, Morris JC.

Arch Neurol. 2005 Dec;62(12):1821-30.

PMID:
16344340
7.

The gene defects responsible for familial Alzheimer's disease.

Tanzi RE, Kovacs DM, Kim TW, Moir RD, Guenette SY, Wasco W.

Neurobiol Dis. 1996;3(3):159-68. Review.

PMID:
8980016
8.

Mutational analysis in early-onset familial dementia in the Japanese population. The role of PSEN1 and MAPT R406W mutations.

Ikeuchi T, Kaneko H, Miyashita A, Nozaki H, Kasuga K, Tsukie T, Tsuchiya M, Imamura T, Ishizu H, Aoki K, Ishikawa A, Onodera O, Kuwano R, Nishizawa M.

Dement Geriatr Cogn Disord. 2008;26(1):43-9. doi: 10.1159/000141483. Epub 2008 Jun 28.

PMID:
18587238
9.

Genetic study of Sardinian patients with Alzheimer's disease.

Piscopo P, Manfredi A, Malvezzi-Campeggi L, Crestini A, Spadoni O, Cherchi R, Deiana E, Piras MR, Confaloni A.

Neurosci Lett. 2006 May 1;398(1-2):124-8. Epub 2006 Jan 19.

PMID:
16423463
10.

Enhanced brain activity may precede the diagnosis of Alzheimer's disease by 30 years.

Mondadori CR, Buchmann A, Mustovic H, Schmidt CF, Boesiger P, Nitsch RM, Hock C, Streffer J, Henke K.

Brain. 2006 Nov;129(Pt 11):2908-22. Epub 2006 Sep 29.

PMID:
17012294
11.

Clinical phenotype of G206D mutation in the presenilin 1 gene in pathologically confirmed familial Alzheimer's disease.

Wu YY, Cheng IH, Lee CC, Chiu MJ, Lee MJ, Chen TF, Hsu JL.

J Alzheimers Dis. 2011;25(1):145-50. doi: 10.3233/JAD-2011-102031.

PMID:
21335660
12.

PSEN1 polymorphisms alter the rate of cognitive decline in sporadic Alzheimer's disease patients.

Belbin O, Beaumont H, Warden D, Smith AD, Kalsheker N, Morgan K.

Neurobiol Aging. 2009 Dec;30(12):1992-9. doi: 10.1016/j.neurobiolaging.2008.02.013. Epub 2008 Apr 9.

PMID:
18403054
13.

Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia.

Arango D, Cruts M, Torres O, Backhovens H, Serrano ML, Villareal E, Montañes P, Matallana D, Cano C, Van Broeckhoven C, Jacquier M.

Am J Med Genet. 2001 Oct 1;103(2):138-43.

PMID:
11568920
14.

Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.

Raux G, Guyant-Maréchal L, Martin C, Bou J, Penet C, Brice A, Hannequin D, Frebourg T, Campion D.

J Med Genet. 2005 Oct;42(10):793-5. Epub 2005 Jul 20.

15.

AMY plaques in familial AD: comparison with sporadic Alzheimer's disease.

Lippa CF, Schmidt ML, Nee LE, Bird T, Nochlin D, Hulette C, Mori H, Lee VM, Trojanowski JQ.

Neurology. 2000 Jan 11;54(1):100-4.

PMID:
10636133
16.

A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis.

Hattori S, Sakuma K, Wakutani Y, Wada K, Shimoda M, Urakami K, Kowa H, Nakashima K.

Neurosci Lett. 2004 Sep 30;368(3):319-22.

PMID:
15364419
17.

A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease.

Ezquerra M, Lleó A, Castellví M, Queralt R, Santacruz P, Pastor P, Molinuevo JL, Blesa R, Oliva R.

Arch Neurol. 2003 Aug;60(8):1149-51.

PMID:
12925374
18.

Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families.

Yescas P, Huertas-Vazquez A, Villarreal-Molina MT, Rasmussen A, Tusié-Luna MT, López M, Canizales-Quinteros S, Alonso ME.

Neurogenetics. 2006 Jul;7(3):195-200. Epub 2006 Apr 21.

PMID:
16628450
19.

Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing.

Yagi R, Miyamoto R, Morino H, Izumi Y, Kuramochi M, Kurashige T, Maruyama H, Mizuno N, Kurihara H, Kawakami H.

Neurobiol Aging. 2014 Jul;35(7):1780.e1-5. doi: 10.1016/j.neurobiolaging.2014.01.023. Epub 2014 Jan 25.

PMID:
24559647
20.

Presenilin 1 polymorphism associated with Alzheimer's disease in apolipoprotein E4 carriers.

Martínez-García A, Aldudo J, Recuero M, Sastre I, Vilella-Cuadrada E, Rosich-Estragó M, Frank A, Valdivieso F, Bullido MJ.

Dement Geriatr Cogn Disord. 2008;26(5):440-4. doi: 10.1159/000165685. Epub 2008 Oct 29.

PMID:
18957849

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