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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. Nicolas G, et al. Eur J Hum Genet. 2016 May;24(5):710-6. doi: 10.1038/ejhg.2015.173. Epub 2015 Aug 5. Eur J Hum Genet. 2016. PMID: 26242991 Free PMC article.
Movement disorders and Creutzfeldt-Jakob disease: a review.
Maltête D, Guyant-Maréchal L, Mihout B, Hannequin D. Maltête D, et al. Parkinsonism Relat Disord. 2006 Mar;12(2):65-71. doi: 10.1016/j.parkreldis.2005.10.004. Epub 2005 Dec 20. Parkinsonism Relat Disord. 2006. PMID: 16364674 Review.
Phenotype associated with APP duplication in five families.
Cabrejo L, Guyant-Maréchal L, Laquerrière A, Vercelletto M, De la Fournière F, Thomas-Antérion C, Verny C, Letournel F, Pasquier F, Vital A, Checler F, Frebourg T, Campion D, Hannequin D. Cabrejo L, et al. Brain. 2006 Nov;129(Pt 11):2966-76. doi: 10.1093/brain/awl237. Epub 2006 Sep 7. Brain. 2006. PMID: 16959815
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
Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment.
du Montcel ST, Charles P, Ribai P, Goizet C, Le Bayon A, Labauge P, Guyant-Maréchal L, Forlani S, Jauffret C, Vandenberghe N, N'guyen K, Le Ber I, Devos D, Vincitorio CM, Manto MU, Tison F, Hannequin D, Ruberg M, Brice A, Durr A. du Montcel ST, et al. Brain. 2008 May;131(Pt 5):1352-61. doi: 10.1093/brain/awn059. Epub 2008 Mar 31. Brain. 2008. PMID: 18378516
73 results