ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model

作者：Antonio Vitobello, Benoît Mazel, Vera G. Lelianova, Alice Zangrandi, Evelina Petitto, Jason Suckling, Vincenzo Salpietro, Robert E. Meyer, Miriam Elbracht, Ingo Kurth, Thomas Eggermann, Ouafa Benlaouer, Gurprit S. Lall, Alexander Tonevitsky, Daryl A. Scott, Katie Chan, Jill A. Rosenfeld, Sophie Nambot, Hana Safraou, Ange‐Line Bruel, Anne‐Sophie Denommé‐Pichon, Frédéric Tran Mau‐Them, Christophe Philippe, Yannis Duffourd, Hui Guo, Andrea Petersen, Leslie Granger, Amy Crunk, Allan Bayat, Pasquale Striano, Federico Zara, Marcello Scala, Quentin Thomas, Andrée Delahaye‐Duriez, Jean‐Madeleine de Sainte Agathe, Julien Buratti, Serguei Kozlov, Laurence Faivre, Christel Thauvin‐Robinet, Yuri A. Ushkaryov · 发表于：The American Journal of Human Genetics · 年份：2022 · DOI：10.1016/j.ajhg.2022.06.011 · 被引用次数：45 · 研究领域：Genetics and Neurodevelopmental Disorders、Mitochondrial Function and Pathology、Ubiquitin and proteasome pathways