@ARTICLE{BAU16, AUTHOR = {Bauché,S. and O'Regan,S. and Azuma,Y. and Laffargue,F. and McMacken,G. and Sternberg,D. and Brochier,G. and Buon,C. and Bouzidi,N. and Topf,A. and Lacène,E. and Remerand,G. and Beaufrere,A. and Pebrel-Richard,C. and Thevenon,J. and El Chehadeh-Djebbar,S. and Faivre,L. and Duffourd,Y. and Ricci,F. and Mongini,T. and Fiorillo,C. and Astrea,G. and Burloiu,C. and Butoianu,N. and Sandu,C. and Servais,L. and Bonne,G. and Nelson,I. and Desguerre,I. and Nougues,M. and Bœuf,B. and Romero,N. and Laporte,J. and Boland,A. and Lechner,D. and Deleuze,J. and Fontaine,B. and Strochlic,L. and Lochmuller,H. and Eymard,B. and Mayer,M. and Nicole,S.}, TITLE = {Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.}, JOURNAL = {Am J Hum Genet.}, YEAR = {2016}, Volume = {99}, Number = {3}, Pages = {753-61} }