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Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.
Nicolas G, Acuña-Hidalgo R, Keogh MJ, Quenez O, Steehouwer M, Lelieveld S, Rousseau S, Richard AC, Oud MS, Marguet F, Laquerrière A, Morris CM, Attems J, Smith C, Ansorge O, Al Sarraj S, Frebourg T, Campion D, Hannequin D, Wallon D, Gilissen C, Chinnery PF, Veltman JA, Hoischen A. Nicolas G, et al. Among authors: frebourg t. Alzheimers Dement. 2018 Dec;14(12):1632-1639. doi: 10.1016/j.jalz.2018.06.3056. Epub 2018 Aug 13. Alzheimers Dement. 2018. PMID: 30114415 Free PMC article.
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. Wallon D, et al. Among authors: frebourg t. J Alzheimers Dis. 2012;30(4):847-56. doi: 10.3233/JAD-2012-120172. J Alzheimers Dis. 2012. PMID: 22475797
TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease.
Pottier C, Wallon D, Rousseau S, Rovelet-Lecrux A, Richard AC, Rollin-Sillaire A, Frebourg T, Campion D, Hannequin D. Pottier C, et al. Among authors: frebourg t. J Alzheimers Dis. 2013;35(1):45-9. doi: 10.3233/JAD-122311. J Alzheimers Dis. 2013. PMID: 23380991
ABCA7 rare variants and Alzheimer disease risk.
Le Guennec K, Nicolas G, Quenez O, Charbonnier C, Wallon D, Bellenguez C, Grenier-Boley B, Rousseau S, Richard AC, Rovelet-Lecrux A, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Pasquier F, Rollin-Sillaire A, Génin E, Lambert JC, Hannequin D, Campion D; CNR-MAJ collaborators. Le Guennec K, et al. Among authors: frebourg t. Neurology. 2016 Jun 7;86(23):2134-7. doi: 10.1212/WNL.0000000000002627. Epub 2016 Apr 1. Neurology. 2016. PMID: 27037229 Free PMC article.
Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls.
Bellenguez C, Charbonnier C, Grenier-Boley B, Quenez O, Le Guennec K, Nicolas G, Chauhan G, Wallon D, Rousseau S, Richard AC, Boland A, Bourque G, Munter HM, Olaso R, Meyer V, Rollin-Sillaire A, Pasquier F, Letenneur L, Redon R, Dartigues JF, Tzourio C, Frebourg T, Lathrop M, Deleuze JF, Hannequin D, Genin E, Amouyel P, Debette S, Lambert JC, Campion D; CNR MAJ collaborators. Bellenguez C, et al. Among authors: frebourg t. Neurobiol Aging. 2017 Nov;59:220.e1-220.e9. doi: 10.1016/j.neurobiolaging.2017.07.001. Epub 2017 Jul 14. Neurobiol Aging. 2017. PMID: 28789839
Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient.
Le Guennec K, Tubeuf H, Hannequin D, Wallon D, Quenez O, Rousseau S, Richard AC, Deleuze JF, Boland A, Frebourg T, Gaildrat P, Campion D, Martins A, Nicolas G. Le Guennec K, et al. Among authors: frebourg t. J Alzheimers Dis. 2018;62(2):821-831. doi: 10.3233/JAD-170981. J Alzheimers Dis. 2018. PMID: 29480197
Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer's Disease.
Boscher E, Husson T, Quenez O, Laquerrière A, Marguet F, Cassinari K, Wallon D, Martinaud O, Charbonnier C, Nicolas G, Deleuze JF, Boland A, Lathrop M, Frébourg T; FREX Consortium; Campion D, Hébert SS, Rovelet-Lecrux A. Boscher E, et al. Among authors: frebourg t. J Alzheimers Dis. 2019;68(3):1243-1255. doi: 10.3233/JAD-180940. J Alzheimers Dis. 2019. PMID: 30909216
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. Among authors: frebourg t. 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.
400 results