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, 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
Published in Molecular psychiatry (01.09.2015)
Published in Molecular psychiatry (01.09.2015)
Get full text
Journal Article
17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression
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
Published in Molecular psychiatry (01.08.2017)
Published in Molecular psychiatry (01.08.2017)
Get full text
Journal Article
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients
Coursimault, Juliette, Cassinari, Kévin, Lecoquierre, François, Quenez, Olivier, Coutant, Sophie, Derambure, Céline, Vezain, Myriam, Drouot, Nathalie, Vera, Gabriella, Schaefer, Elise, Philippe, Anaïs, Doray, Bérénice, Lambert, Laëtitia, Ghoumid, Jamal, Smol, Thomas, Rama, Mélanie, Legendre, Marine, Lacombe, Didier, Fergelot, Patricia, Olaso, Robert, Boland, Anne, Deleuze, Jean‐François, Goldenberg, Alice, Saugier‐Veber, Pascale, Nicolas, Gaël
Published in Human mutation (01.12.2022)
Published in Human mutation (01.12.2022)
Get full text
Journal Article
Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing
David, Stéphanie, Ferreira, Joana, Quenez, Olivier, Rovelet-Lecrux, Anne, Richard, Anne-Claire, Vérin, Marc, Jurici, Snejana, Le Ber, Isabelle, Boland, Anne, Deleuze, Jean-François, Frebourg, Thierry, Mendes de Oliveira, João Ricardo, Hannequin, Didier, Campion, Dominique, Nicolas, Gaël
Published in European journal of human genetics : EJHG (01.11.2016)
Published in European journal of human genetics : EJHG (01.11.2016)
Get full text
Journal Article
De novo deleterious genetic variations target a biological network centered on A[beta] peptide in early-onset Alzheimer disease
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
Published in Molecular psychiatry (01.09.2015)
Published in Molecular psychiatry (01.09.2015)
Get full text
Journal Article