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Items: 1 to 20 of 86

1.

A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease.

Rovelet-Lecrux A, Legallic S, Wallon D, Flaman JM, Martinaud O, Bombois S, Rollin-Sillaire A, Michon A, Le Ber I, Pariente J, Puel M, Paquet C, Croisile B, Thomas-Antérion C, Vercelletto M, Lévy R, Frébourg T, Hannequin D, Campion D; Investigators of the GMAJ project.

Eur J Hum Genet. 2012 Jun;20(6):613-7. doi: 10.1038/ejhg.2011.225. Epub 2011 Dec 14.

2.

Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.

Campion D, Dumanchin C, Hannequin D, Dubois B, Belliard S, Puel M, Thomas-Anterion C, Michon A, Martin C, Charbonnier F, Raux G, Camuzat A, Penet C, Mesnage V, Martinez M, Clerget-Darpoux F, Brice A, Frebourg T.

Am J Hum Genet. 1999 Sep;65(3):664-70.

3.

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]..

4.

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
5.

Role of common and rare APP DNA sequence variants in Alzheimer disease.

Hooli BV, Mohapatra G, Mattheisen M, Parrado AR, Roehr JT, Shen Y, Gusella JF, Moir R, Saunders AJ, Lange C, Tanzi RE, Bertram L.

Neurology. 2012 Apr 17;78(16):1250-7. doi: 10.1212/WNL.0b013e3182515972. Epub 2012 Apr 4.

6.

Rare autosomal copy number variations in early-onset familial Alzheimer's disease.

Hooli BV, Kovacs-Vajna ZM, Mullin K, Blumenthal MA, Mattheisen M, Zhang C, Lange C, Mohapatra G, Bertram L, Tanzi RE.

Mol Psychiatry. 2014 Jun;19(6):676-81. doi: 10.1038/mp.2013.77. Epub 2013 Jun 11.

PMID:
23752245
7.

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.

8.

The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers.

Wallon D, Rousseau S, Rovelet-Lecrux A, Quillard-Muraine M, Guyant-Maréchal L, Martinaud O, Pariente J, Puel M, Rollin-Sillaire A, Pasquier F, Le Ber I, Sarazin M, Croisile B, Boutoleau-Bretonnière C, Thomas-Antérion C, Paquet C, Moreaud O, Gabelle A, Sellal F, Sauvée M, Laquerrière A, Duyckaerts C, Delisle MB, Streichenberger N, Lannes B, Frebourg T, Hannequin D, Campion D; collaborators of GMAJ project.

J Alzheimers Dis. 2012;30(4):847-56. doi: 10.3233/JAD-2012-120172.

PMID:
22475797
9.

De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.

Rovelet-Lecrux A, Charbonnier C, Wallon D, Nicolas G, Seaman MN, Pottier C, Breusegem SY, Mathur PP, Jenardhanan P, Le Guennec K, Mukadam AS, Quenez O, Coutant S, Rousseau S, Richard AC, Boland A, Deleuze JF, Frebourg T, Hannequin D, Campion D; CNR-MAJ collaborators.

Mol Psychiatry. 2015 Sep;20(9):1046-56. doi: 10.1038/mp.2015.100. Epub 2015 Jul 21.

PMID:
26194182
10.

Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain.

Lleó A, Blesa R, Queralt R, Ezquerra M, Molinuevo JL, Peña-Casanova J, Rojo A, Oliva R.

Arch Neurol. 2002 Nov;59(11):1759-63.

PMID:
12433263
11.

[Personal genomics for Alzheimer's disease].

Kuwano R, Hara N.

Brain Nerve. 2013 Mar;65(3):235-46. Review. Japanese.

PMID:
23475515
12.

[Alzheimer disease: autosomal dominant forms].

Guyant-Maréchal L, Campion D, Hannequin D.

Rev Neurol (Paris). 2009 Mar;165(3):223-31. doi: 10.1016/j.neurol.2008.10.019. Epub 2008 Dec 10. French.

PMID:
19081588
13.

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.

14.

Clinical and neuroimaging characterization of Chinese dementia patients with PSEN1 and PSEN2 mutations.

Shi Z, Wang Y, Liu S, Liu M, Liu S, Zhou Y, Wang J, Cai L, Huo YR, Gao S, Ji Y.

Dement Geriatr Cogn Disord. 2015;39(1-2):32-40. doi: 10.1159/000366272. Epub 2014 Oct 15.

PMID:
25323700
15.

From Common to Rare Variants: The Genetic Component of Alzheimer Disease.

Nicolas G, Charbonnier C, Campion D.

Hum Hered. 2016;81(3):129-141. doi: 10.1159/000452256. Epub 2016 Dec 22. Review.

PMID:
28002825
16.

Regulation of Alzheimer beta-amyloid precursor trafficking and metabolism.

Gandy S, Petanceska S.

Biochim Biophys Acta. 2000 Jul 26;1502(1):44-52. Review.

17.

Assessment of amyloid beta-protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases.

Tanzi RE, Vaula G, Romano DM, Mortilla M, Huang TL, Tupler RG, Wasco W, Hyman BT, Haines JL, Jenkins BJ, et al.

Am J Hum Genet. 1992 Aug;51(2):273-82.

18.

On the identification of low allele frequency mosaic mutations in the brains of Alzheimer's disease patients.

Sala Frigerio C, Lau P, Troakes C, Deramecourt V, Gele P, Van Loo P, Voet T, De Strooper B.

Alzheimers Dement. 2015 Nov;11(11):1265-76. doi: 10.1016/j.jalz.2015.02.007. Epub 2015 Apr 29.

PMID:
25937274
19.

A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer's disease risk.

Chapman J, Rees E, Harold D, Ivanov D, Gerrish A, Sims R, Hollingworth P, Stretton A; GERAD1 Consortium, Holmans P, Owen MJ, O'Donovan MC, Williams J, Kirov G.

Hum Mol Genet. 2013 Feb 15;22(4):816-24. doi: 10.1093/hmg/dds476. Epub 2012 Nov 11.

20.

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

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