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Page 1
17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression.
Le Guennec K, Quenez O, Nicolas G, Wallon D, Rousseau S, Richard AC, Alexander J, Paschou P, Charbonnier C, Bellenguez C, Grenier-Boley B, Lechner D, Bihoreau MT, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Martinaud O, Kalev O, Mehrabian S, Traykov L, Ströbel T, Le Ber I, Caroppo P, Epelbaum S, Jonveaux T, Pasquier F, Rollin-Sillaire A, Génin E, Guyant-Maréchal L, Kovacs GG, Lambert JC, Hannequin D, Campion D, Rovelet-Lecrux A. Le Guennec K, et al. Among authors: richard ac. Mol Psychiatry. 2017 Aug;22(8):1119-1125. doi: 10.1038/mp.2016.226. Epub 2016 Dec 13. Mol Psychiatry. 2017. PMID: 27956742
De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.
Rovelet-Lecrux A, Charbonnier C, Wallon D, Nicolas G, Seaman MN, Pottier C, Breusegem SY, Mathur PP, Jenardhanan P, Le Guennec K, Mukadam AS, Quenez O, Coutant S, Rousseau S, Richard AC, Boland A, Deleuze JF, Frebourg T, Hannequin D, Campion D; CNR-MAJ collaborators. Rovelet-Lecrux A, et al. Among authors: richard ac. Mol Psychiatry. 2015 Sep;20(9):1046-56. doi: 10.1038/mp.2015.100. Epub 2015 Jul 21. Mol Psychiatry. 2015. PMID: 26194182
SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease.
Nicolas G, Charbonnier C, Wallon D, Quenez O, Bellenguez C, Grenier-Boley B, Rousseau S, Richard AC, Rovelet-Lecrux A, Le Guennec K, 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, Génin E, Lambert JC, Hannequin D, Campion D; CNR-MAJ collaborators. Nicolas G, et al. Among authors: richard ac. Mol Psychiatry. 2016 Jun;21(6):831-6. doi: 10.1038/mp.2015.121. Epub 2015 Aug 25. Mol Psychiatry. 2016. PMID: 26303663
Mitochondrial Biomarkers and Metabolic Syndrome in Bipolar Disorder.
Zachos KA, Choi J, Godin O, Chernega T, Kwak HA, Jung JH, Aouizerate B, Aubin V, Bellivier F, Belzeaux-R R, Courtet P, Dubertret C, Etain B, Haffen E, Lefrere A A, Llorca PM, Olié E, Polosan M, Samalin L, Schwan R, Roux P, Barau C, Richard JR, Tamouza R, Leboyer M, Andreazza AC; FondaMental Academic Centers of Expertise in Bipolar Disorders (FACE-BD) Collaborators. Zachos KA, et al. Among authors: richard jr. Psychiatry Res. 2024 Sep;339:116063. doi: 10.1016/j.psychres.2024.116063. Epub 2024 Jul 6. Psychiatry Res. 2024. PMID: 39003800 Free article.
Input of exome sequencing in early-onset cerebral amyloid angiopathy.
Grangeon L, Charbonnier C, Rousseau S, Richard AC, Quenez O, Zarea A, Boland A, Olaso R, Deleuze JF; CAA study group; Tournier-Lasserve E, Nicolas G, Wallon D. Grangeon L, et al. Among authors: richard ac. Alzheimers Dement (Amst). 2024 Nov 23;16(4):e70027. doi: 10.1002/dad2.70027. eCollection 2024 Oct-Dec. Alzheimers Dement (Amst). 2024. PMID: 39583652 Free PMC article.
Single-cell analysis reveals lasting immunological consequences of influenza infection and respiratory immunization in the pig lung.
Muir A, Paudyal B, Schmidt S, Sedaghat-Rostami E, Chakravarti S, Villanueva-Hernández S, Moffat K, Polo N, Angelopoulos N, Schmidt A, Tenbusch M, Freimanis G, Gerner W, Richard AC, Tchilian E. Muir A, et al. Among authors: richard ac. PLoS Pathog. 2024 Jul 18;20(7):e1011910. doi: 10.1371/journal.ppat.1011910. eCollection 2024 Jul. PLoS Pathog. 2024. PMID: 39024231 Free PMC article.
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund ÅK, Caiella A, Glomnes N, Brønstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze JF, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini JL, İpek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da'as SI, Fakhro KA, Gómez-Pascual A, Botía JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G; SYNaPS Study Group; Arnesen T, Houlden H. Chelban V, et al. Among authors: richard ac. Nat Commun. 2024 Mar 13;15(1):2269. doi: 10.1038/s41467-024-46354-0. Nat Commun. 2024. PMID: 38480682 Free PMC article.
73 results