Contribution of the dihydropyrimidinase-like proteins family in synaptic physiology and in neurodevelopmental disorders von Desprez, Florence, Ung, Dévina C, Vourc'h, Patrick, Jeanne, Médéric, Laumonnier, Frédéric

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GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses von Ung, Dévina C., Pietrancosta, Nicolas, Badillo, Elena Baz, Raux, Brigitt, Tapken, Daniel, Zlatanovic, Andjela, Doridant, Adrien, Pode-Shakked, Ben, Raas-Rothschild, Annick, Elpeleg, Orly, Abu-Libdeh, Bassam, Hamed, Nasrin, Papon, Marie-Amélie, Marouillat, Sylviane, Thépault, Rose-Anne, Stevanin, Giovanni, Elegheert, Jonathan, Letellier, Mathieu, Hollmann, Michael, Lambolez, Bertrand, Tricoire, Ludovic, Toutain, Annick, Hepp, Régine, Laumonnier, Frédéric

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Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth von Jeanne, Médéric, Vuillaume, Marie-Laure, Ung, Dévina C., Vancollie, Valerie E., Wagner, Christel, Collins, Stephan C., Vonwill, Sandrine, Haye, Damien, Chelloug, Nora, Pfundt, Rolph, Kummeling, Joost, Moizard, Marie-Pierre, Marouillat, Sylviane, Kleefstra, Tjitske, Yalcin, Binnaz, Laumonnier, Frédéric, Toutain, Annick

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Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder von Halewa, Judith, Marouillat, Sylviane, Dixneuf, Manon, Thépault, Rose‐Anne, Ung, Dévina C., Chatron, Nicolas, Gérard, Bénédicte, Ghoumid, Jamal, Lesca, Gaëtan, Till, Marianne, Smol, Thomas, Couque, Nathalie, Ruaud, Lyse, Chune, Valérie, Grotto, Sarah, Verloes, Alain, Vuillaume, Marie‐Laure, Toutain, Annick, Raynaud, Martine, Laumonnier, Frédéric

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Developmental and Behavioral Phenotypes in a Mouse Model of DDX3X Syndrome von Boitnott, Andrea, Garcia-Forn, Marta, Ung, Dévina C., Niblo, Kristi, Mendonca, Danielle, Park, Yeaji, Flores, Michael, Maxwell, Sylvia, Ellegood, Jacob, Qiu, Lily R., Grice, Dorothy E., Lerch, Jason P., Rasin, Mladen-Roko, Buxbaum, Joseph D., Drapeau, Elodie, De Rubeis, Silvia

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GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses von Ung, Dévina C, Pietrancosta, Nicolas, Badillo, Elena Baz, Raux, Brigitt, Tapken, Daniel, Zlatanovic, Andjela, Doridant, Adrien, Pode-Shakked, Ben, Raas-Rothschild, Annick, Elpeleg, Orly, Abu-Libdeh, Bassam, Hamed, Nasrin, Papon, Marie-Amélie, Marouillat, Sylviane, Thépault, Rose-Anne, Stevanin, Giovanni, Elegheert, Jonathan, Letellier, Mathieu, Hollmann, Michael, Lambolez, Bertrand, Tricoire, Ludovic, Toutain, Annick, Hepp, Régine, Laumonnier, Frédéric

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Developmental and Behavioral Phenotypes in a Mouse Model of DDX3X Syndrome von Boitnott, Andrea, Garcia-Forn, Marta, Ung, Devina C., Niblo, Kristi, Mendonca, Danielle, Park, Yeaji, Flores, Michael, Maxwell, Sylvia, Ellegood, Jacob, Qiu, Lily R., Grice, Dorothy E., Lerch, Jason P., Rasin, Mladen-Roko, Buxbaum, Joseph D., Drapeau, Elodie, De Rubeis, Silvia

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