Search Results - "Le Guennec, K"

Alzheimer disease: modeling an Aβ-centered biological network by Campion, D, Pottier, C, Nicolas, G, Le Guennec, K, Rovelet-Lecrux, A

“…In genetically complex diseases, the search for missing heritability is focusing on rare variants with large effect. Thanks to next generation sequencing…”
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De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease by Rovelet-Lecrux, A, Charbonnier, C, Wallon, D, Nicolas, G, Seaman, M N J, Pottier, C, Breusegem, S Y, Mathur, P P, Jenardhanan, P, Le Guennec, K, Mukadam, A S, Quenez, O, Coutant, S, Rousseau, S, Richard, A-C, Boland, A, Deleuze, J-F, Frebourg, T, Hannequin, D, Campion, D

“…We hypothesized that de novo variants (DNV) might participate in the genetic determinism of sporadic early-onset Alzheimer disease (EOAD, onset before 65…”
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17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression by Le Guennec, K, Quenez, O, Nicolas, G, Wallon, D, Rousseau, S, Richard, A-C, Alexander, J, Paschou, P, Charbonnier, C, Bellenguez, C, Grenier-Boley, B, Lechner, D, Bihoreau, M-T, Olaso, R, Boland, A, Meyer, V, Deleuze, J-F, Amouyel, P, Munter, H M, Bourque, G, Lathrop, M, Frebourg, T, Redon, R, Letenneur, L, Dartigues, J-F, 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, G G, Lambert, J-C, Hannequin, D, Campion, D, Rovelet-Lecrux, A

“…To assess the role of rare copy number variations in Alzheimer's disease (AD), we conducted a case–control study using whole-exome sequencing data from 522…”
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SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease by Nicolas, G, Charbonnier, C, Wallon, D, Quenez, O, Bellenguez, C, Grenier-Boley, B, Rousseau, S, Richard, A-C, Rovelet-Lecrux, A, Le Guennec, K, Bacq, D, Garnier, J-G, Olaso, R, Boland, A, Meyer, V, Deleuze, J-F, Amouyel, P, Munter, H M, Bourque, G, Lathrop, M, Frebourg, T, Redon, R, Letenneur, L, Dartigues, J-F, Génin, E, Lambert, J-C, Hannequin, D, Campion, D

“…The SORL1 protein plays a protective role against the secretion of the amyloid β peptide, a key event in the pathogeny of Alzheimer’s disease. We assessed the…”
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Alzheimer disease: modeling an A[beta]-centered biological network by Campion, D, Pottier, C, Nicolas, G, Le Guennec, K, Rovelet-lecrux, A

“…In genetically complex diseases, the search for missing heritability is focusing on rare variants with large effect. Thanks to next generation sequencing…”
Get full text

De novo deleterious genetic variations target a biological network centered on A[beta] peptide in early-onset Alzheimer disease by Rovelet-lecrux, A, Charbonnier, C, Wallon, D, Nicolas, G, Seaman, M N J, Pottier, C, Breusegem, S Y, Mathur, P P, Jenardhanan, P, Le Guennec, K, Mukadam, A S, Quenez, O, Coutant, S, Rousseau, S, Richard, A-c, Boland, A, Deleuze, J-f, Frebourg, T, Hannequin, D, Campion, D

“…We hypothesized that de novo variants (DNV) might participate in the genetic determinism of sporadic early-onset Alzheimer disease (EOAD, onset before 65…”
Get full text