Contribution of the dihydropyrimidinase-like proteins family in synaptic physiology and in neurodevelopmental disorders

por Desprez, Florence, Ung, Dévina C., Vourc’h, Patrick, Jeanne, Médéric, Laumonnier, Frédéric
Publicado 2023

Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

por 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
Publicado 2021