| Title : Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort - Polavarapu_2023_Brain__ |
| Author(s) : Polavarapu K , Sunitha B , Topf A , Preethish-Kumar V , Thompson R , Vengalil S , Nashi S , Bardhan M , Sanka SB , Huddar A , Unnikrishnan G , Arunachal G , Girija MS , Porter A , Azuma Y , Lorenzoni PJ , Baskar D , Anjanappa RM , Keertipriya M , Padmanabh H , Harikrishna GV , Laurie S , Matalonga L , Horvath R , Nalini A , Lochmuller H |
| Ref : Brain , : , 2023 |
| Abstract : Polavarapu_2023_Brain__ |
| ESTHER : Polavarapu_2023_Brain__ |
| PubMedSearch : Polavarapu_2023_Brain__ |
| PubMedID: 37721175 |
| Title : Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness - Owen_2018_Am.J.Med.Genet.A_176_1594 |
| Author(s) : Owen D , Topf A , Preethish-Kumar V , Lorenzoni PJ , Vroling B , Scola RH , Dias-Tosta E , Geraldo A , Polavarapu K , Nashi S , Cox D , Evangelista T , Dawson J , Thompson R , Senderek J , Laurie S , Beltran S , Gut M , Gut I , Nalini A , Lochmuller H |
| Ref : American Journal of Medicine Genet A , 176 :1594 , 2018 |
| Abstract : Owen_2018_Am.J.Med.Genet.A_176_1594 |
| ESTHER : Owen_2018_Am.J.Med.Genet.A_176_1594 |
| PubMedSearch : Owen_2018_Am.J.Med.Genet.A_176_1594 |
| PubMedID: 29704306 |
| Title : Congenital myasthenic syndrome: a brief review - Lorenzoni_2012_Pediatr.Neurol_46_141 |
| Author(s) : Lorenzoni PJ , Scola RH , Kay CS , Werneck LC |
| Ref : Pediatr Neurol , 46 :141 , 2012 |
| Abstract : Lorenzoni_2012_Pediatr.Neurol_46_141 |
| ESTHER : Lorenzoni_2012_Pediatr.Neurol_46_141 |
| PubMedSearch : Lorenzoni_2012_Pediatr.Neurol_46_141 |
| PubMedID: 22353287 |