Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 113

1.

Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project.

Blue EE, Bis JC, Dorschner MO, Tsuang DW, Barral SM, Beecham G, Below JE, Bush WS, Butkiewicz M, Cruchaga C, DeStefano A, Farrer LA, Goate A, Haines J, Jaworski J, Jun G, Kunkle B, Kuzma A, Lee JJ, Lunetta KL, Ma Y, Martin E, Naj A, Nato AQ, Navas P, Nguyen H, Reitz C, Reyes D, Salerno W, Schellenberg GD, Seshadri S, Sohi H, Thornton TA, Valadares O, van Duijn C, Vardarajan BN, Wang LS, Boerwinkle E, Dupuis J, Pericak-Vance MA, Mayeux R, Wijsman EM; on behalf of the Alzheimer’s Disease Sequencing Project.

Dement Geriatr Cogn Disord. 2018;45(1-2):1-17. doi: 10.1159/000485503. Epub 2018 Feb 27.

2.

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 SC, Pastor P, Cooper B, Cervantes S, Benitez BA, Razquin C, Goate A; Ibero-American Alzheimer Disease Genetics Group Researchers, Cruchaga C.

Alzheimers Res Ther. 2012 Aug 20;4(4):34. doi: 10.1186/alzrt137.

3.

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.e1-2881.e6. doi: 10.1016/j.neurobiolaging.2014.06.002. Epub 2014 Jun 16.

4.

Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.

Cruchaga C, Haller G, Chakraverty S, Mayo K, Vallania FL, Mitra RD, Faber K, Williamson J, Bird T, Diaz-Arrastia R, Foroud TM, Boeve BF, Graff-Radford NR, St Jean P, Lawson M, Ehm MG, Mayeux R, Goate AM; NIA-LOAD/NCRAD Family Study Consortium.

PLoS One. 2012;7(2):e31039. doi: 10.1371/journal.pone.0031039. Epub 2012 Feb 1. Erratum in: PLoS One. 2012;7(5): doi/10.1371/annotation/c92e16da-7733-421d-b063-1db19488daa6. Haller, Gabe [added]..

5.

Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry.

Patel D, Mez J, Vardarajan BN, Staley L, Chung J, Zhang X, Farrell JJ, Rynkiewicz MJ, Cannon-Albright LA, Teerlink CC, Stevens J, Corcoran C, Gonzalez Murcia JD, Lopez OL, Mayeux R, Haines JL, Pericak-Vance MA, Schellenberg G, Kauwe JSK, Lunetta KL, Farrer LA; Alzheimer’s Disease Sequencing Project.

JAMA Netw Open. 2019 Mar 1;2(3):e191350. doi: 10.1001/jamanetworkopen.2019.1350.

6.

Association of GSK3B with Alzheimer disease and frontotemporal dementia.

Schaffer BA, Bertram L, Miller BL, Mullin K, Weintraub S, Johnson N, Bigio EH, Mesulam M, Wiedau-Pazos M, Jackson GR, Cummings JL, Cantor RM, Levey AI, Tanzi RE, Geschwind DH.

Arch Neurol. 2008 Oct;65(10):1368-74. doi: 10.1001/archneur.65.10.1368.

7.

Screening of Early and Late Onset Alzheimer's Disease Genetic Risk Factors in a Cohort of Dementia Patients from Liguria, Italy.

Ferrari R, Ferrara M, Alinani A, Sutton RB, Famà F, Picco A, Rodriguez G, Nobili F, Momeni P.

Curr Alzheimer Res. 2015;12(8):802-12.

PMID:
26159191
8.

Genetics of dementia in a Finnish cohort.

Pasanen P, Myllykangas L, Pöyhönen M, Kiviharju A, Siitonen M, Hardy J, Bras J, Paetau A, Tienari PJ, Guerreiro R, Verkkoniemi-Ahola A.

Eur J Hum Genet. 2018 Jun;26(6):827-837. doi: 10.1038/s41431-018-0117-3. Epub 2018 Feb 23.

9.

Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport.

Kunkle BW, Vardarajan BN, Naj AC, Whitehead PL, Rolati S, Slifer S, Carney RM, Cuccaro ML, Vance JM, Gilbert JR, Wang LS, Farrer LA, Reitz C, Haines JL, Beecham GW, Martin ER, Schellenberg GD, Mayeux RP, Pericak-Vance MA.

JAMA Neurol. 2017 Sep 1;74(9):1113-1122. doi: 10.1001/jamaneurol.2017.1518.

10.

Evaluating pathogenic dementia variants in posterior cortical atrophy.

Carrasquillo MM, Barber I, Lincoln SJ, Murray ME, Camsari GB, Khan QUA, Nguyen T, Ma L, Bisceglio GD, Crook JE, Younkin SG, Dickson DW, Boeve BF, Graff-Radford NR, Morgan K, Ertekin-Taner N.

Neurobiol Aging. 2016 Jan;37:38-44. doi: 10.1016/j.neurobiolaging.2015.09.023. Epub 2015 Oct 8.

11.

Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants.

Blauwendraat C, Wilke C, Jansen IE, Schulte C, Simón-Sánchez J, Metzger FG, Bender B, Gasser T, Maetzler W, Rizzu P, Heutink P, Synofzik M.

Neurobiol Aging. 2016 Jan;37:208.e11-208.e17. doi: 10.1016/j.neurobiolaging.2015.09.016. Epub 2015 Sep 30.

PMID:
26522186
12.

A multiancestral genome-wide exome array study of Alzheimer disease, frontotemporal dementia, and progressive supranuclear palsy.

Chen JA, Wang Q, Davis-Turak J, Li Y, Karydas AM, Hsu SC, Sears RL, Chatzopoulou D, Huang AY, Wojta KJ, Klein E, Lee J, Beekly DL, Boxer A, Faber KM, Haase CM, Miller J, Poon WW, Rosen A, Rosen H, Sapozhnikova A, Shapira J, Varpetian A, Foroud TM, Levenson RW, Levey AI, Kukull WA, Mendez MF, Ringman J, Chui H, Cotman C, DeCarli C, Miller BL, Geschwind DH, Coppola G.

JAMA Neurol. 2015 Apr;72(4):414-22. doi: 10.1001/jamaneurol.2014.4040.

13.

Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia.

Cuyvers E, Bettens K, Philtjens S, Van Langenhove T, Gijselinck I, van der Zee J, Engelborghs S, Vandenbulcke M, Van Dongen J, Geerts N, Maes G, Mattheijssens M, Peeters K, Cras P, Vandenberghe R, De Deyn PP, Van Broeckhoven C, Cruts M, Sleegers K; BELNEU consortium.

Neurobiol Aging. 2014 Mar;35(3):726.e11-9. doi: 10.1016/j.neurobiolaging.2013.09.009. Epub 2013 Oct 9.

PMID:
24119542
14.

Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes.

Thelen M, Razquin C, Hernández I, Gorostidi A, Sánchez-Valle R, Ortega-Cubero S, Wolfsgruber S, Drichel D, Fliessbach K, Duenkel T, Damian M, Heilmann S, Slotosch A, Lennarz M, Seijo-Martínez M, Rene R, Kornhuber J, Peters O, Luckhaus C, Jahn H, Hüll M, Rüther E, Wiltfang J, Lorenzo E, Gascon J, Lleó A, Lladó A, Campdelacreu J, Moreno F, Ahmadzadehfar H; Dementia Genetics Spanish Consortium (DEGESCO), Fortea J, Indakoetxea B, Heneka MT, Wetter A, Pastor MA, Riverol M, Becker T, Frölich L, Tárraga L, Boada M, Wagner M, Jessen F, Maier W, Clarimón J, López de Munain A, Ruiz A, Pastor P, Ramirez A.

Neurobiol Aging. 2014 Nov;35(11):2657.e13-2657.e19. doi: 10.1016/j.neurobiolaging.2014.06.018. Epub 2014 Jun 20.

PMID:
25042114
15.

The effect of APOE and other common genetic variants on the onset of Alzheimer's disease and dementia: a community-based cohort study.

van der Lee SJ, Wolters FJ, Ikram MK, Hofman A, Ikram MA, Amin N, van Duijn CM.

Lancet Neurol. 2018 May;17(5):434-444. doi: 10.1016/S1474-4422(18)30053-X. Epub 2018 Mar 16. Erratum in: Lancet Neurol. 2018 Apr 25;:.

PMID:
29555425
16.

[Neuroepigenetics: Desoxyribonucleic acid methylation in Alzheimer's disease and other dementias].

Mendioroz Iriarte M, Pulido Fontes L, Méndez-López I.

Med Clin (Barc). 2015 May 21;144(10):457-64. doi: 10.1016/j.medcli.2014.03.023. Epub 2014 Jun 3. Review. Spanish.

PMID:
24907105
17.

Assessment of the Genetic Architecture of Alzheimer's Disease Risk in Rate of Memory Decline.

Del-Aguila JL, Fernández MV, Schindler S, Ibanez L, Deming Y, Ma S, Saef B, Black K, Budde J, Norton J, Chasse R; Alzheimer’s Disease Neuroimaging Initiative (ADNI), Harari O, Goate A, Xiong C, Morris JC, Cruchaga C.

J Alzheimers Dis. 2018;62(2):745-756. doi: 10.3233/JAD-170834.

18.

R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia.

Slattery CF, Beck JA, Harper L, Adamson G, Abdi Z, Uphill J, Campbell T, Druyeh R, Mahoney CJ, Rohrer JD, Kenny J, Lowe J, Leung KK, Barnes J, Clegg SL, Blair M, Nicholas JM, Guerreiro RJ, Rowe JB, Ponto C, Zerr I, Kretzschmar H, Gambetti P, Crutch SJ, Warren JD, Rossor MN, Fox NC, Collinge J, Schott JM, Mead S.

Alzheimers Dement. 2014 Nov;10(6):602-608.e4. doi: 10.1016/j.jalz.2014.05.1751. Epub 2014 Aug 23.

20.

Novel PSEN1 mutations (H214N and R220P) associated with familial Alzheimer's disease identified by targeted exome sequencing.

Piccoli E, Rossi G, Rossi T, Pelliccioni G, D'Amato I, Tagliavini F, Di Fede G.

Neurobiol Aging. 2016 Apr;40:192.e7-192.e11. doi: 10.1016/j.neurobiolaging.2016.01.134. Epub 2016 Feb 28.

PMID:
26925509

Supplemental Content

Support Center