Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases
Titel:
Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases
Auteur:
Natera-de Benito, Daniel Pugliese, Alessia Polavarapu, Kiran Guergueltcheva, Velina Tournev, Ivailo Todorova, Albena Afonso Ribeiro, Joana Fernández-Mayoralas, Daniel M. Ortez, Carlos Martorell, Loreto Estévez-Arias, Berta Matalonga, Leslie Laurie, Steven Jou, Cristina Lau, Jarred Thompson, Rachel Shen, Xinming Engel, Andrew G. Nascimento, Andres Lochmüller, Hanns Selcen, Duygu