Citations 4
A Spontaneously Resolving Pyridostigmine Responsive Congenital Myasthenic Syndrome Caused by Isolated PREPL Deficiency (S45.004)
Selcen, Duygu , Shen, Xin , Meulemans, Sandra, Creemers, John W.M. , Engel, Andrew, Régal, Luc
Neurology | December 7, 2023 | Volume: 80 | Issue: 7_supplement | Pages: No page available
A Spontaneously Resolving Pyridostigmine Responsive Congenital Myasthenic Syndrome Caused by Isolated PREPL Deficiency (IN1-1.001)
Selcen, Duygu , Shen, Xin , Meulemans, Sandra, Creemers, John W.M. , Engel, Andrew, Régal, Luc
Neurology | December 7, 2023 | Volume: 80 | Issue: 7_supplement | Pages: No page available
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
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Human Mutation | March 2, 2016 | Volume: 37 | Issue: 7 | Pages: 653-660
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