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 : |
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 : |
PubMedSearch : Owen_2018_Am.J.Med.Genet.A_176_1594 |
PubMedID: 29704306 |