| 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 : Acute severe animal model of anti-muscle-specific kinase myasthenia: combined postsynaptic and presynaptic changes - Richman_2012_Arch.Neurol_69_453 |
| Author(s) : Richman DP , Nishi K , Morell SW , Chang JM , Ferns MJ , Wollmann RL , Maselli RA , Schnier J , Agius MA |
| Ref : Archives of Neurology , 69 :453 , 2012 |
| Abstract : |
| PubMedSearch : Richman_2012_Arch.Neurol_69_453 |
| PubMedID: 22158720 |
| 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 |
| Title : Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2 - Maselli_2003_Neurology_61_1743 |
| Author(s) : Maselli RA , Wan J , Dunne V , Graves M , Baloh RW , Wollmann RL , Jen J |
| Ref : Neurology , 61 :1743 , 2003 |
| Abstract : |
| PubMedSearch : Maselli_2003_Neurology_61_1743 |
| PubMedID: 14694040 |