uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome von Coursimault, Juliette, Rovelet‐Lecrux, Anne, Cassinari, Kévin, Brischoux‐Boucher, Elise, Saugier‐Veber, Pascale, Goldenberg, Alice, Lecoquierre, François, Drouot, Nathalie, Richard, Anne‐Claire, Vera, Gabriella, Coutant, Sophie, Quenez, Olivier, Rolain, Marion, Bonnet, Céline, Bronner, Myriam, Lecourtois, Magalie, Nicolas, Gaël

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Atypical astroglial pTDP‐43 pathology in astroglial predominant tauopathy von Gelpi, Ellen, Aldecoa, Iban, Lopez‐Villegas, Dolores, Abellan‐Vidal, Maria Teresa, Mercadel‐Fañanas, Pilar, Fortea, Juan, Ribosa, Roser, Morenas, Estrella, Gomez‐Anson, Beatriz, Molina‐Porcel, Laura, Ximelis, Teresa, Borrego, Sergi, Antonell, Anna, Rovelet‐Lecrux, Anne, Klotz, Sigrid, Andres‐Benito, Pol, Sanchez‐Valle, Raquel, Ferrer, Isidre

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Detection of all adult Tau isoforms in a 3D culture model of iPSC-derived neurons von Miguel, Laetitia, Rovelet-Lecrux, Anne, Feyeux, Maxime, Frebourg, Thierry, Nassoy, Pierre, Campion, Dominique, Lecourtois, Magalie

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Clinical and neuropathological diversity of tauopathy in MAPT duplication carriers von Wallon, David, Boluda, Susana, Rovelet-Lecrux, Anne, Thierry, Manon, Lagarde, Julien, Miguel, Laetitia, Lecourtois, Magalie, Bonnevalle, Antoine, Sarazin, Marie, Bottlaender, Michel, Mula, Mathieu, Marty, Serge, Nakamura, Natsuko, Schramm, Catherine, Sellal, François, Jonveaux, Thérèse, Heitz, Camille, Le Ber, Isabelle, Epelbaum, Stéphane, Magnin, Eloi, Zarea, Aline, Rousseau, Stéphane, Quenez, Olivier, Hannequin, Didier, Clavaguera, Florence, Campion, Dominique, Duyckaerts, Charles, Nicolas, Gaël

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Prognostic value of HPV circulating tumor DNA detection and quantification in locally advanced cervical cancer von Beaussire-Trouvay, Ludivine, Duhamel, Orianne, Perdrix, Anne, Lévêque, Emilie, Vion, Roman, Rovelet-Lecrux, Anne, Sarafan-Vasseur, Nasrin, Di Fiore, Frédéric, Crouzet, Agathe, Leheurteur, Marianne, Clatot, Florian

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Mutation in the 3'untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy von Nicolas, Gaël, Wallon, David, Goupil, Claudia, Richard, Anne-Claire, Pottier, Cyril, Dorval, Véronique, Sarov-Rivière, Mariana, Riant, Florence, Hervé, Dominique, Amouyel, Philippe, Guerchet, Maelenn, Ndamba-Bandzouzi, Bebene, Mbelesso, Pascal, Dartigues, Jean-François, Lambert, Jean-Charles, Preux, Pierre-Marie, Frebourg, Thierry, Campion, Dominique, Hannequin, Didier, Tournier-Lasserve, Elisabeth, Hébert, Sébastien S, Rovelet-Lecrux, Anne

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Description of Joint Alterations Observed in a Family Carrying p.Asn453Ser COMP Variant: Clinical Phenotypes, In Silico Prediction of Functional Impact on COMP Protein and Stabilit... von Rochoux, Quitterie, Sopkova-de Oliveira Santos, Jana, Marcelli, Christian, Rovelet-Lecrux, Anne, Chevallier, Virginie, Dutheil, Jean-Jacques, Leclercq, Sylvain, Boumediene, Karim, Bauge, Catherine, Aury-Landas, Juliette

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GENETIC DISSECTION OF SEVERITY AND ONSET MODULATORS FOR ALZHEIMER’S PATHOLOGY IN DOWN SYNDROME USING CELLULAR SYSTEMS von Murray, Aoife, Goh, Pollyanna, Yeap, Yee-Jie, Startin, Carla, Hamburg, Sarah, Hithersay, Rosalyn, d'Souza, Hana, Mok, Kin, Rovelet-Lecrux, Anne, Wallon, David, Choolani, Mahesh, Chan, Jerry, Botte, Alexandra, Potier, Marie-Claude, Augustine, George, Wiseman, Frances K., Fisher, Elizabeth, Tybulewicz, Victor L., Karmiloff-Smith, Annette, Strydom, Andre, Hardy, John, Groet, Jurgen, Nizetic, Dean

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Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease von Rovelet-Lecrux, Anne, Deramecourt, Vincent, Legallic, Solenn, Maurage, Claude-Alain, Le Ber, Isabelle, Brice, Alexis, Lambert, Jean-Charles, Frébourg, Thierry, Hannequin, Didier, Pasquier, Florence, Campion, Dominique

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Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification von NICOLAS, Gaël, POTTIER, Cyril, MARTINAUD, Olivier, DEFEBVRE, Luc, KRYSTKOWIAK, Pierre, PARIENTE, Jérémie, CLANET, Michel, LABAUGE, Pierre, AYRIGNAC, Xavier, LEFAUCHEUR, Romain, LE BER, Isabelle, FREBOURG, Thierry, MALTETE, David, HANNEQUIN, Didier, CAMPION, Dominique, COUTANT, Sophie, ROVELET-LECRUX, Anne, LEGALLIC, Solenn, ROUSSEAU, Stéphane, VASCHALDE, Yvan, GUYANT-MARECHAL, Lucie, AUGUSTIN, Jérôme

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Establishment of induced pluripotent stem cells IRMBi005-A from a patient with sporadic Alzheimer’s disease von Provost, C. Clua, Auboyer, L., Rovelet-Lecrux, A., Monzo, C., Schob, Eliot, Lehmann, S., Wallon, D., Crozet, C.

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APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy von Brice, Alexis, Hannequin, Didier, Laquerrière, Annie, Dumanchin, Cécile, Vercelletto, Martine, Campion, Dominique, Feuillette, Sébastien, Meur, Nathalie Le, Raux, Gregory, Rovelet-Lecrux, Anne, Frebourg, Thierry, Vital, Anne, Dubas, Frédéric

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Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members von Finch, NiCole, Baker, Matt, Crook, Richard, Swanson, Katie, Kuntz, Karen, Surtees, Rebecca, Bisceglio, Gina, Rovelet-Lecrux, Anne, Boeve, Bradley, Petersen, Ronald C., Dickson, Dennis W., Younkin, Steven G., Deramecourt, Vincent, Crook, Julia, Graff-Radford, Neill R., Rademakers, Rosa

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APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases von Lanoiselée, Hélène-Marie, Nicolas, Gaël, Wallon, David, Rovelet-Lecrux, Anne, Lacour, Morgane, Rousseau, Stéphane, Richard, Anne-Claire, Pasquier, Florence, Rollin-Sillaire, Adeline, Martinaud, Olivier, Quillard-Muraine, Muriel, de la Sayette, Vincent, Boutoleau-Bretonniere, Claire, Etcharry-Bouyx, Frédérique, Chauviré, Valérie, Sarazin, Marie, le Ber, Isabelle, Epelbaum, Stéphane, Jonveaux, Thérèse, Rouaud, Olivier, Ceccaldi, Mathieu, Félician, Olivier, Godefroy, Olivier, Formaglio, Maite, Croisile, Bernard, Auriacombe, Sophie, Chamard, Ludivine, Vincent, Jean-Louis, Sauvée, Mathilde, Marelli-Tosi, Cecilia, Gabelle, Audrey, Ozsancak, Canan, Pariente, Jérémie, Paquet, Claire, Hannequin, Didier, Campion, Dominique

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Regional distribution of synaptic markers and APP correlate with distinct clinicopathological features in sporadic and familial Alzheimer’s disease von Shinohara, Mitsuru, Fujioka, Shinsuke, Murray, Melissa E., Wojtas, Aleksandra, Baker, Matthew, Rovelet-Lecrux, Anne, Rademakers, Rosa, Das, Pritam, Parisi, Joseph E., Graff-Radford, Neill R., Petersen, Ronald C., Dickson, Dennis W., Bu, Guojun

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A Polymorphism in CALHM1 Influences Ca2+ Homeostasis, Aβ Levels, and Alzheimer's Disease Risk von Dreses-Werringloer, Ute, Lambert, Jean-Charles, Vingtdeux, Valérie, Zhao, Haitian, Vais, Horia, Siebert, Adam, Jain, Ankit, Koppel, Jeremy, Rovelet-Lecrux, Anne, Hannequin, Didier, Pasquier, Florence, Galimberti, Daniela, Scarpini, Elio, Mann, David, Lendon, Corinne, Campion, Dominique, Amouyel, Philippe, Davies, Peter, Foskett, J. Kevin, Campagne, Fabien, Marambaud, Philippe

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A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations von Cassinari, Kévin, Quenez, Olivier, Joly-Hélas, Géraldine, Beaussire, Ludivine, Le Meur, Nathalie, Castelain, Mathieu, Goldenberg, Alice, Guerrot, Anne-Marie, Brehin, Anne-Claire, Deleuze, Jean-François, Boland, Anne, Rovelet-Lecrux, Anne, Campion, Dominique, Saugier-Veber, Pascale, Gruchy, Nicolas, Frebourg, Thierry, Nicolas, Gaël, Sarafan-Vasseur, Nasrin, Chambon, Pascal

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Assessment of SORL1 rare variants segregation in Alzheimer disease families and in vitro models suggests diverse penetrance and oligogenic inheritance von Nicolas, Gaël, Schramm, Catherine, Miguel, Laetitia, Lacour, Morgane, Rousseau, Stéphane, Wallon, David, Charbonnier, Camille, Zarea, Aline, Campion, Dominique, Rovelet‐Lecrux, Anne, Lecourtois, Magalie

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Alzheimer‐like pathology in trisomy 21 cerebral organoids amenable to pharmacological inhibition reveals BACE2 as a gene‐dose‐sensitive AD‐suppressor in human brain: Development of... von Alic, Ivan, Goh, Pollyanna, Murray, Aoife, Portelius, Erik, Gough, Gillian, Gkanatsiou, Eleni, Wallon, David, Rovelet‐Lecrux, Anne, Rostagno, Agueda, Ghiso, Jorge, Francis, Paul T., Strydom, Andre, Hardy, John, Zetterberg, Henrik, Nizetic, Dean

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A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia von Nicolas, Gaël, Jacquin, Agnès, Thauvin-Robinet, Christel, Rovelet-Lecrux, Anne, Rouaud, Olivier, Pottier, Cyril, Aubriot-Lorton, Marie-Hélène, Rousseau, Stéphane, Wallon, David, Duvillard, Christian, Béjot, Yannick, Frébourg, Thierry, Giroud, Maurice, Campion, Dominique, Hannequin, Didier

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