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Items: 1 to 20 of 103

1.

Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.

Giau VV, Senanarong V, Bagyinszky E, An SSA, Kim S.

Int J Mol Sci. 2019 Mar 26;20(6). pii: E1514. doi: 10.3390/ijms20061514.

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.

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
4.

C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic.

Wojtas A, Heggeli KA, Finch N, Baker M, Dejesus-Hernandez M, Younkin SG, Dickson DW, Graff-Radford NR, Rademakers R.

Am J Neurodegener Dis. 2012;1(1):107-18. Epub 2012 May 16.

5.

Gene mutations in a Han Chinese Alzheimer's disease cohort.

Ma L, Zhang J, Shi Y, Wang W, Ren Z, Xia M, Zhang Y, Yang M.

Brain Behav. 2019 Jan;9(1):e01180. doi: 10.1002/brb3.1180. Epub 2018 Dec 14.

6.

A genetic screen of the mutations in the Korean patients with early-onset Alzheimer's disease.

An SS, Park SA, Bagyinszky E, Bae SO, Kim YJ, Im JY, Park KW, Park KH, Kim EJ, Jeong JH, Kim JH, Han HJ, Choi SH, Kim S.

Clin Interv Aging. 2016 Dec 15;11:1817-1822. doi: 10.2147/CIA.S116724. eCollection 2016.

7.

Mutation and association analyses of dementia-causal genes in Han Chinese patients with early-onset and familial Alzheimer's disease.

Wang G, Zhang DF, Jiang HY, Fan Y, Ma L, Shen Z, Bi R, Xu M, Tan L, Shan B, Yao YG, Feng T.

J Psychiatr Res. 2019 Mar 30;113:141-147. doi: 10.1016/j.jpsychires.2019.03.026. [Epub ahead of print]

PMID:
30954774
8.

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.

9.

Genetic screening in early-onset Alzheimer's disease identified three novel presenilin mutations.

Wong TH, Seelaar H, Melhem S, Rozemuller AJM, van Swieten JC.

Neurobiol Aging. 2019 Jan 29. pii: S0197-4580(19)30029-6. doi: 10.1016/j.neurobiolaging.2019.01.015. [Epub ahead of print]

PMID:
30797548
10.

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
11.

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
12.

TREM2 Variants and Neurodegenerative Diseases: A Systematic Review and Meta-Analysis.

Zhou SL, Tan CC, Hou XH, Cao XP, Tan L, Yu JT.

J Alzheimers Dis. 2019;68(3):1171-1184. doi: 10.3233/JAD-181038.

PMID:
30883352
13.

Next Generation Sequencing Analysis in Early Onset Dementia Patients.

Bonvicini C, Scassellati C, Benussi L, Di Maria E, Maj C, Ciani M, Fostinelli S, Mega A, Bocchetta M, Lanzi G, Giacopuzzi E, Ferraboli S, Pievani M, Fedi V, Defanti CA, Giliani S; Alzheimer’s Disease Neuroimaging Initiative, Frisoni GB, Ghidoni R, Gennarelli M.

J Alzheimers Dis. 2019;67(1):243-256. doi: 10.3233/JAD-180482.

14.

Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.

Nicolas G, Wallon D, Charbonnier C, Quenez O, Rousseau S, Richard AC, Rovelet-Lecrux A, Coutant S, Le Guennec K, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Munter HM, Bourque G, Auld D, Montpetit A, Lathrop M, Guyant-Maréchal L, Martinaud O, Pariente J, Rollin-Sillaire A, Pasquier F, Le Ber I, Sarazin M, Croisile B, Boutoleau-Bretonnière C, Thomas-Antérion C, Paquet C, Sauvée M, Moreaud O, Gabelle A, Sellal F, Ceccaldi M, Chamard L, Blanc F, Frebourg T, Campion D, Hannequin D.

Eur J Hum Genet. 2016 May;24(5):710-6. doi: 10.1038/ejhg.2015.173. Epub 2015 Aug 5.

15.

Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.

Fernández MV, Kim JH, Budde JP, Black K, Medvedeva A, Saef B, Deming Y, Del-Aguila J, Ibañez L, Dube U, Harari O, Norton J, Chasse R, Morris JC, Goate A; NIA-LOAD family study group; NCRAD, Cruchaga C.

PLoS Genet. 2017 Nov 1;13(11):e1007045. doi: 10.1371/journal.pgen.1007045. eCollection 2017 Nov.

16.

Whole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer's disease.

Patel T, Brookes KJ, Turton J, Chaudhury S, Guetta-Baranes T, Guerreiro R, Bras J, Hernandez D, Singleton A, Francis PT, Hardy J, Morgan K.

Neuropathol Appl Neurobiol. 2018 Aug;44(5):506-521. doi: 10.1111/nan.12452. Epub 2018 Jan 7.

17.

The genes associated with early-onset Alzheimer's disease.

Dai MH, Zheng H, Zeng LD, Zhang Y.

Oncotarget. 2017 Dec 15;9(19):15132-15143. doi: 10.18632/oncotarget.23738. eCollection 2018 Mar 13. Review.

18.

Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.

Sassi C, Guerreiro R, Gibbs R, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Lord J, Turton J, Mann D, Snowden J, Neary D, Harris J, Bras J; ARUK Consortium, Morgan K, Powell JF, Singleton A, Hardy J.

Neurobiol Aging. 2014 Oct;35(10):2422.e13-6. doi: 10.1016/j.neurobiolaging.2014.04.026. Epub 2014 May 2.

19.

Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort.

Verheijen J, van der Zee J, Gijselinck I, Van den Bossche T, Dillen L, Heeman B, Gómez-Tortosa E, Lladó A, Sanchez-Valle R, Graff C, Pastor P, Pastor MA, Benussi L, Ghidoni R, Binetti G, Clarimon J, de Mendonça A, Gelpi E, Tsolaki M, Diehl-Schmid J, Nacmias B, Almeida MR, Borroni B, Matej R, Ruiz A, Engelborghs S, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C, Sleegers K; BELNEU Consortium; EU EOD Consortium.

Neurobiol Aging. 2018 Feb;62:245.e1-245.e7. doi: 10.1016/j.neurobiolaging.2017.10.012. Epub 2017 Oct 25.

20.

Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease.

Van Giau V, Senanarong V, Bagyinszky E, Limwongse C, An SSA, Kim S.

Neuropsychiatr Dis Treat. 2018 Nov 8;14:3015-3023. doi: 10.2147/NDT.S180174. eCollection 2018.

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