Title : LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin - Maselli_2012_Hum.Genet_131_1123 |
Author(s) : Maselli RA , Fernandez JM , Arredondo J , Navarro C , Ngo M , Beeson D , Cagney O , Williams DC , Wollmann RL , Yarov-Yarovoy V , Ferns MJ |
Ref : Hum Genet , 131 :1123 , 2012 |
Abstract : |
PubMedSearch : Maselli_2012_Hum.Genet_131_1123 |
PubMedID: 22205389 |
Title : Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome - Maselli_2009_J.Med.Genet_46_203 |
Author(s) : Maselli RA , Ng JJ , Anderson JA , Cagney O , Arredondo J , Williams C , Wessel HB , Abdel-Hamid H , Wollmann RL |
Ref : Journal of Medical Genetics , 46 :203 , 2009 |
Abstract : |
PubMedSearch : Maselli_2009_J.Med.Genet_46_203 |
PubMedID: 19251977 |