Citations 28
PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome
Régal, Luc , Shen, Xin‐Ming , Selcen, Duygu , Verhille, Chantal, Meulemans, Sandra, Creemers, John W.M. , Engel, Andrew G.
Neurology | March 8, 2014 | Volume: 82 | Issue: 14 | Pages: 1254-1260
GFPT1-myasthenia
Selcen, Duygu , Shen, Xin‐Ming , Milone, Margherita , Brengman, Joan M., Ohno, Kinji , Deymeer, Feza , Rowin, Julie, Engel, Andrew G. , Finkel, Richard S.
Neurology | June 22, 2013 | Volume: 81 | Issue: 4 | Pages: 370-378
Highly fatal fast-channel syndrome caused by AChR ɛ subunit mutation at the agonist binding site
Shen, Xin‐Ming , Brengman, Joan M., Edvardson, Simon , Sine, Steve M., Engel, Andrew G. , Sine, Steven M.
Neurology | May 17, 2012 | Volume: 79 | Issue: 5 | Pages: 449-454
Are MuSK antibodies the primary cause of myasthenic symptoms?
Selcen, Duygu , Fukuda, Taku , Shen, Xin‐Ming , Engel, Andrew G.
Neurology | May 14, 2012 | Volume: 62 | Issue: 11 | Pages: 1945-1950
Congenital myasthenic syndrome caused by low-expressor fast-channel AChR δ subunit mutation
Shen, Xin‐Ming , Fukudome, T., Tsujino, Akira, Brengman, Joan M., Vivo, Darryl C. De , Packer, Roger J. , Engel, Andrew G. , Ohno, Kinji
Neurology | May 13, 2012 | Volume: 59 | Issue: 12 | Pages: 1881-1888
Three novel COLQ mutations and variation of phenotypic expressivity due to G240X
Shapira, Yehuda, Sadeh, Menachem , Bergtraum, M.P., Tsujino, Akira, Ohno, Kinji , Shen, Xin‐Ming , Brengman, Joan M., Edwardson, S., Matoth, I., Engel, Andrew G.
Neurology | May 13, 2012 | Volume: 58 | Issue: 4 | Pages: 603-609
Myasthenic syndrome due to defects in rapsyn
Milone, Margherita , Shen, Xin‐Ming , Selcen, Duygu , Ohno, Kinji , Brengman, Joan M., Iannaccone, Susan T. , Harper, Charles M., Engel, Andrew G.
Neurology | July 20, 2009 | Volume: 73 | Issue: 3 | Pages: 228-235
Novel congenital myasthenic syndromes associated with defects in quantal release
Milone, Margherita , Fukuda, Taku , Shen, Xin‐Ming , Tsujino, Akira, Brengman, Joan M., Engel, Andrew G.
Neurology | March 9, 2006 | Volume: 66 | Issue: 8 | Pages: 1223-1229