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Page 1
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: richard ac. 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.
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: richard ac. J Alzheimers Dis. 2013;35(1):45-9. doi: 10.3233/JAD-122311. J Alzheimers Dis. 2013. PMID: 23380991
Mutation in the 3'untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy.
Nicolas G, Wallon D, Goupil C, Richard AC, Pottier C, Dorval V, Sarov-Rivière M, Riant F, Hervé D, Amouyel P, Guerchet M, Ndamba-Bandzouzi B, Mbelesso P, Dartigues JF, Lambert JC, Preux PM, Frebourg T, Campion D, Hannequin D, Tournier-Lasserve E, Hébert SS, Rovelet-Lecrux A. Nicolas G, et al. Among authors: richard ac. Eur J Hum Genet. 2016 Jan;24(1):92-8. doi: 10.1038/ejhg.2015.61. Epub 2015 Apr 1. Eur J Hum Genet. 2016. PMID: 25828868 Free PMC article.
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.
Legati A, Giovannini D, Nicolas G, López-Sánchez U, Quintáns B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo Á, Castro-Fernández C, Cubizolle S, Fogel BL, Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H, Pariente J, Richard AC, Salins NS, Simpson SA, Striano P, Svenningsson P, Tison F, Unni VK, Vanakker O, Wessels MW, Wetchaphanphesat S, Yang M, Boller F, Campion D, Hannequin D, Sitbon M, Geschwind DH, Battini JL, Coppola G. Legati A, et al. Among authors: richard ac. Nat Genet. 2015 Jun;47(6):579-81. doi: 10.1038/ng.3289. Epub 2015 May 4. Nat Genet. 2015. PMID: 25938945 Free PMC article.
Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.
Nicolas G, Charbonnier C, de Lemos RR, Richard AC, Guillin O, Wallon D, Legati A, Geschwind D, Coppola G, Frebourg T, Campion D, de Oliveira JR, Hannequin D; collaborators from the French IBGC study Group. Nicolas G, et al. Among authors: richard ac. Am J Med Genet B Neuropsychiatr Genet. 2015 Oct;168(7):586-94. doi: 10.1002/ajmg.b.32336. Epub 2015 Jun 30. Am J Med Genet B Neuropsychiatr Genet. 2015. PMID: 26129893
The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.
Richard AC, Rovelet-Lecrux A, Delaby E, Charbonnier C, Thiruvahindrapuram B, Hatchwell E, Eis PS, Afenjar A, Gilbert Dussardier B, Scherer SW, Betancur C, Campion D. Richard AC, et al. Am J Med Genet B Neuropsychiatr Genet. 2016 Apr;171B(3):377-82. doi: 10.1002/ajmg.b.32416. Epub 2016 Jan 14. Am J Med Genet B Neuropsychiatr Genet. 2016. PMID: 26978485 Free article.
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: richard ac. Neurology. 2016 Jun 7;86(23):2134-7. doi: 10.1212/WNL.0000000000002627. Epub 2016 Apr 1. Neurology. 2016. PMID: 27037229 Free PMC article.
XPR1 mutations are a rare cause of primary familial brain calcification.
Anheim M, López-Sánchez U, Giovannini D, Richard AC, Touhami J, N'Guyen L, Rudolf G, Thibault-Stoll A, Frebourg T, Hannequin D, Campion D, Battini JL, Sitbon M, Nicolas G. Anheim M, et al. Among authors: richard ac. J Neurol. 2016 Aug;263(8):1559-64. doi: 10.1007/s00415-016-8166-4. Epub 2016 May 26. J Neurol. 2016. PMID: 27230854
Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing.
David S, Ferreira J, Quenez O, Rovelet-Lecrux A, Richard AC, Vérin M, Jurici S, Le Ber I, Boland A, Deleuze JF, Frebourg T, Mendes de Oliveira JR, Hannequin D, Campion D, Nicolas G. David S, et al. Among authors: richard ac. Eur J Hum Genet. 2016 Nov;24(11):1630-1634. doi: 10.1038/ejhg.2016.50. Epub 2016 Jun 1. Eur J Hum Genet. 2016. PMID: 27245298 Free PMC article.
78 results