| 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 : Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome - Donkervoort_2020_Am.J.Med.Genet.A_182_2272 |
| Author(s) : Donkervoort S , Mohassel P , Laugwitz L , Zaki MS , Kamsteeg EJ , Maroofian R , Chao KR , Verschuuren-Bemelmans CC , Horber V , Fock AJM , McCarty RM , Jain MS , Biancavilla V , McMacken G , Nalls M , Voermans NC , Elbendary HM , Snyder M , Cai C , Lehky TJ , Stanley V , Iannaccone ST , Foley AR , Lochmuller H , Gleeson J , Houlden H , Haack TB , Horvath R , Bonnemann CG |
| Ref : American Journal of Medicine Genet A , 182 :2272 , 2020 |
| Abstract : |
| PubMedSearch : Donkervoort_2020_Am.J.Med.Genet.A_182_2272 |
| PubMedID: 32776697 |
| Title : Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome - McMacken_2019_Hum.Mol.Genet_28_2339 |
| Author(s) : McMacken GM , Spendiff S , Whittaker RG , O'Connor E , Howarth RM , Boczonadi V , Horvath R , Slater CR , Lochmuller H |
| Ref : Hum Mol Genet , 28 :2339 , 2019 |
| Abstract : |
| PubMedSearch : McMacken_2019_Hum.Mol.Genet_28_2339 |
| PubMedID: 31220253 |
| Title : The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene - Reilich_2011_J.Neurol_258_1987 |
| Author(s) : Reilich P , Horvath R , Krause S , Schramm N , Turnbull DM , Trenell M , Hollingsworth KG , Gorman GS , Hans VH , Reimann J , MacMillan A , Turner L , Schollen A , Witte G , Czermin B , Holinski-Feder E , Walter MC , Schoser B , Lochmuller H |
| Ref : Journal of Neurology , 258 :1987 , 2011 |
| Abstract : |
| PubMedSearch : Reilich_2011_J.Neurol_258_1987 |
| PubMedID: 21544567 |