Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Vincenzo Salpietro, Nancy T Malintan, Isabel Llano-Rivas, Christine G Spaeth, Stephanie Efthymiou, Pasquale Striano, Jana Vandrovcova, Maria C Cutrupi, Roberto Chimenz, Emanuele David, Gabriella Di Rosa, Anna Marce-Grau, Miquel Raspall-Chaure, Elena Martin-Hernandez, Federico Zara, Carlo Minetti, Oscar D Bello, Rita De Zorzi, Sara Fortuna, Andrew Dauber, Mariam Alkhawaja, Tipu Sultan, Kshitij Mankad, Antonio Vitobello, Quentin Thomas, Frederic Tran Mau-Them, Laurence Faivre, Francisco Martinez-Azorin, Carlos E Prada, Alfons Macaya, Dimitri M Kullmann, James E Rothman, Shyam S Krishnakumar, Henry Houlden
American journal of human genetics 2020;104(4):721-730