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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. Rovelet-Lecrux A, et al. Eur J Hum Genet. 2012 Jun;20(6):613-7. doi: 10.1038/ejhg.2011.225. Epub 2011 Dec 14. Eur J Hum Genet. 2012. PMID: 22166940 Free PMC article.
Variations in the APP gene promoter region and risk of Alzheimer disease.
Guyant-Maréchal L, Rovelet-Lecrux A, Goumidi L, Cousin E, Hannequin D, Raux G, Penet C, Ricard S, Macé S, Amouyel P, Deleuze JF, Frebourg T, Brice A, Lambert JC, Campion D. Guyant-Maréchal L, et al. Neurology. 2007 Feb 27;68(9):684-7. doi: 10.1212/01.wnl.0000255938.33739.46. Neurology. 2007. PMID: 17325276
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.
Le Ber I, Camuzat A, Hannequin D, Pasquier F, Guedj E, Rovelet-Lecrux A, Hahn-Barma V, van der Zee J, Clot F, Bakchine S, Puel M, Ghanim M, Lacomblez L, Mikol J, Deramecourt V, Lejeune P, de la Sayette V, Belliard S, Vercelletto M, Meyrignac C, Van Broeckhoven C, Lambert JC, Verpillat P, Campion D, Habert MO, Dubois B, Brice A; French research network on FTD/FTD-MND. Le Ber I, et al. Brain. 2008 Mar;131(Pt 3):732-46. doi: 10.1093/brain/awn012. Epub 2008 Feb 1. Brain. 2008. PMID: 18245784
A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk.
Dreses-Werringloer U, Lambert JC, Vingtdeux V, Zhao H, Vais H, Siebert A, Jain A, Koppel J, Rovelet-Lecrux A, Hannequin D, Pasquier F, Galimberti D, Scarpini E, Mann D, Lendon C, Campion D, Amouyel P, Davies P, Foskett JK, Campagne F, Marambaud P. Dreses-Werringloer U, et al. Cell. 2008 Jun 27;133(7):1149-61. doi: 10.1016/j.cell.2008.05.048. Cell. 2008. PMID: 18585350 Free PMC article.
Intrafamilial diversity of phenotype associated with app duplication.
Guyant-Marechal I, Berger E, Laquerrière A, Rovelet-Lecrux A, Viennet G, Frebourg T, Rumbach L, Campion D, Hannequin D. Guyant-Marechal I, et al. Neurology. 2008 Dec 2;71(23):1925-6. doi: 10.1212/01.wnl.0000339400.64213.56. Neurology. 2008. PMID: 19047566 No abstract available.
Partial deletion of the MAPT gene: a novel mechanism of FTDP-17.
Rovelet-Lecrux A, Lecourtois M, Thomas-Anterion C, Le Ber I, Brice A, Frebourg T, Hannequin D, Campion D. Rovelet-Lecrux A, et al. Hum Mutat. 2009 Apr;30(4):E591-602. doi: 10.1002/humu.20979. Hum Mutat. 2009. PMID: 19263483
59 results