Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Vincenzo Salpietro(National Hospital for Neurology and Neurosurgery), Belén Pérez‐Dueñas(Vall d'Hebron Hospital Universitari), Bru Cormand(Instituto de Salud Carlos III), Alfons Macaya(Universitat Autònoma de Barcelona), Wolfgang Nachbauer(Innsbruck Medical University), Mariam Alkhawaja(Ministry of Health), Gabriella Di Rosa(University of Messina), Carlos E. Prada(Cincinnati Children's Hospital Medical Center), Christine G. Spaeth(Cincinnati Children's Hospital Medical Center), Frédéric Tran Mau‐Them(Inserm), Carlo Minetti(Istituto Giannina Gaslini), M. Aguennouz(University of Messina), Laurence Faivre(Inserm), Francisco Martínez‐Azorín(Research Institute Hospital 12 de Octubre), Stéphanie Efthymiou(Queen Mary University of London), Dimitri M. Kullmann(National Hospital for Neurology and Neurosurgery), Andrew Dauber(Children's National), Rita De Zorzi(University of Trieste), Roberto Chimenz(Unknown), Sara Fortuna(University of Trieste), Hadil Kathom, Lionel Van Maldergem, Federico Zara(Istituto Giannina Gaslini), Jana Vandrovcová(Texas Tech University), Sylvia Boesch(Innsbruck Medical University), Antonio Vitobello(Inserm), Anna Marcé‐Grau(Universitat Autònoma de Barcelona), Radka Tincheva(National Hospital for Neurology and Neurosurgery), Kshitij Mankad(Great Ormond Street Hospital for Children NHS Foundation Trust), Oscar D. Bello(Department of Embryology), Quentin Thomas(Inserm), Elena Martín‐Hernández(Hospital Universitario 12 De Octubre), Henry Houlden(Queen Mary University of London), Pasquale Striano(Great Ormond Street Hospital), Miquel Raspall‐Chaure, Tipu Sultan(Cukurova University), Emanuele David, James E. Rothman(Epilepsy Research UK), Blagovesta Marinova Karashova(Universidade Federal de Pernambuco), Shyam S. Krishnakumar(Yale University), Maria Concetta Cutrupi(University of Messina), Daniela Avdjieva, Dagmar Timmann(National Hospital for Neurology and Neurosurgery), Nancy T. Malintan(Epilepsy Research UK), M. El Khorassani(Hospital Fatuma Bourguiba Monastir), Yamna Kriouile, Larissa Arning(National Hospital for Neurology and Neurosurgery), Isabel Llano‐Rivas(Hospital de Cruces)
The American Journal of Human Genetics
March 28, 2019
Cited by 136


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