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Page 1
Clinical and neuropathological diversity of tauopathy in MAPT duplication carriers.
Wallon D, Boluda S, Rovelet-Lecrux A, Thierry M, Lagarde J, Miguel L, Lecourtois M, Bonnevalle A, Sarazin M, Bottlaender M, Mula M, Marty S, Nakamura N, Schramm C, Sellal F, Jonveaux T, Heitz C, Le Ber I, Epelbaum S, Magnin E, Zarea A, Rousseau S, Quenez O, Hannequin D, Clavaguera F, Campion D, Duyckaerts C, Nicolas G. Wallon D, et al. Acta Neuropathol. 2021 Aug;142(2):259-278. doi: 10.1007/s00401-021-02320-4. Epub 2021 Jun 6. Acta Neuropathol. 2021. PMID: 34095977
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
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
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.
High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease.
Pottier C, Hannequin D, Coutant S, Rovelet-Lecrux A, Wallon D, Rousseau S, Legallic S, Paquet C, Bombois S, Pariente J, Thomas-Anterion C, Michon A, Croisile B, Etcharry-Bouyx F, Berr C, Dartigues JF, Amouyel P, Dauchel H, Boutoleau-Bretonnière C, Thauvin C, Frebourg T, Lambert JC, Campion D; PHRC GMAJ Collaborators. Pottier C, et al. Mol Psychiatry. 2012 Sep;17(9):875-9. doi: 10.1038/mp.2012.15. Epub 2012 Apr 3. Mol Psychiatry. 2012. PMID: 22472873
60 results