Citations 6
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
Investigation of Congenital Myasthenic Syndrome (CMS) Reveals Asymmetric Contribution of Invariant Cys-Loop Aspartate Residues Critical for AChR Channel Opening (S45.002)
Shen, Xin , Brengman, Joan M., Neubauer, David , Engel, Andrew G.
Neurology | December 7, 2023 | Volume: 80 | Issue: 7_supplement | Pages: No page available
Investigation of 11 Patients with GFPT1-Myasthenia Reveals Clinical, Structural, and Electrophysiologic Heterogeneity (S45.001)
Selcen, Duygu , Shen, Xin , Milone, Margherita , Brengman, Joan M., McQuillen, Michael, Deymeer, Feza , Rowin, Julie, Ohno, Kinji , McQuillen, Michael, Finkel, Richard S. , Engel, Andrew G.
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
Mutant SNAP25B Causes Novel Congenital Myasthenic Syndrome (CMS), Cortical Hyperexcitability, Ataxia, and Intellectual Disability (S34.003)
Shen, Xin , Selcen, Duygu , Brengman, Joan M., Engel, Andrew
Neurology | December 6, 2023 | Volume: 84 | Issue: 14_supplement | Pages: No page available
Novel congenital myasthenic syndrome caused by homozygous mutation in 3′-UTR of low-density lipoprotein receptor-related protein 6 (LRP6) gene (P7-13.010)
Shen, Xin , Selcen, Duygu , Engel, Andrew
Neurology | December 6, 2023 | Volume: 98 | Issue: 18_supplement | Pages: No page available