| Title : Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review - Ohno_2023_Int.J.Mol.Sci_24_ |
| Author(s) : Ohno K , Ohkawara B , Shen XM , Selcen D , Engel AG |
| Ref : Int J Mol Sci , 24 : , 2023 |
| Abstract : |
| PubMedSearch : Ohno_2023_Int.J.Mol.Sci_24_ |
| PubMedID: 36835142 |
| Gene_locus related to this paper: human-PREPL |
| Title : The unfolding landscape of the congenital myasthenic syndromes - Engel_2018_Ann.N.Y.Acad.Sci_1413_25 |
| Author(s) : Engel AG , Shen XM , Selcen D |
| Ref : Annals of the New York Academy of Sciences , 1413 :25 , 2018 |
| Abstract : |
| PubMedSearch : Engel_2018_Ann.N.Y.Acad.Sci_1413_25 |
| PubMedID: 29355968 |
| Title : Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia - Selcen_2015_JAMA.Neurol_72_889 |
| Author(s) : Selcen D , Ohkawara B , Shen XM , McEvoy K , Ohno K , Engel AG |
| Ref : JAMA Neurol , 72 :889 , 2015 |
| Abstract : |
| PubMedSearch : Selcen_2015_JAMA.Neurol_72_889 |
| PubMedID: 26052878 |
| Title : PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome - Regal_2014_Neurology_82_1254 |
| Author(s) : Regal L , Shen XM , Selcen D , Verhille C , Meulemans S , Creemers JW , Engel AG |
| Ref : Neurology , 82 :1254 , 2014 |
| Abstract : |
| PubMedSearch : Regal_2014_Neurology_82_1254 |
| PubMedID: 24610330 |
| Gene_locus related to this paper: human-PREPL |
| Title : Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia - Liewluck_2011_Muscle.Nerve_44_789 |
| Author(s) : Liewluck T , Selcen D , Engel AG |
| Ref : Muscle & Nerve , 44 :789 , 2011 |
| Abstract : |
| PubMedSearch : Liewluck_2011_Muscle.Nerve_44_789 |
| PubMedID: 21952943 |
| Title : What have we learned from the congenital myasthenic syndromes - Engel_2010_J.Mol.Neurosci_40_143 |
| Author(s) : Engel AG , Shen XM , Selcen D , Sine SM |
| Ref : Journal of Molecular Neuroscience , 40 :143 , 2010 |
| Abstract : |
| PubMedSearch : Engel_2010_J.Mol.Neurosci_40_143 |
| PubMedID: 19688192 |
| Title : Further observations in congenital myasthenic syndromes - Engel_2008_Ann.N.Y.Acad.Sci_1132_104 |
| Author(s) : Engel AG , Shen XM , Selcen D , Sine SM |
| Ref : Annals of the New York Academy of Sciences , 1132 :104 , 2008 |
| Abstract : |
| PubMedSearch : Engel_2008_Ann.N.Y.Acad.Sci_1132_104 |
| PubMedID: 18567859 |
| Title : Are MuSK antibodies the primary cause of myasthenic symptoms? - Selcen_2004_Neurology_62_1945 |
| Author(s) : Selcen D , Fukuda T , Shen XM , Engel AG |
| Ref : Neurology , 62 :1945 , 2004 |
| Abstract : |
| PubMedSearch : Selcen_2004_Neurology_62_1945 |
| PubMedID: 15184594 |