Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder

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Authors: Noa Lipstein, Nanda M. Verhoeven-Duif, Francesco E. Michelassi, Nathaniel Calloway, Peter M. van Hasselt, Katarzyna Pienkowska, Gijs van Haaften, Mieke M. van Haelst, Ron van Empelen, Inge Cuppen, Heleen C. van Teeseling, Annemieke M.V. Evelein, Jacob A. Vorstman, Sven Thoms, Olaf Jahn, Karen J. Duran, Glen R. Monroe, Timothy A. Ryan, Holger Taschenberger, Jeremy S. Dittman, Jeong-Seop Rhee, Gepke

Journal title: Journal of Clinical Investigation

Journal number: 127/3

Journal publisher: American Society for Clinical Investigation

Published year: 2017

Published pages: 1005-1018

DOI identifier: 10.1172/JCI90259

ISSN: 0021-9738