| 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 : KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors - Natera-de Benito_2016_J.Neurol_263_517 |
| Author(s) : Natera-de Benito D , Nascimento A , Abicht A , Ortez C , Jou C , Muller JS , Evangelista T , Topf A , Thompson R , Jimenez-Mallebrera C , Colomer J , Lochmuller H |
| Ref : Journal of Neurology , 263 :517 , 2016 |
| Abstract : Natera-de Benito_2016_J.Neurol_263_517 |
| ESTHER : Natera-de Benito_2016_J.Neurol_263_517 |
| PubMedSearch : Natera-de Benito_2016_J.Neurol_263_517 |
| PubMedID: 26754003 |
| Title : Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness - Evangelista_2015_J.Neuromuscul.Dis_2_S21 |
| Author(s) : Evangelista T , Hanna M , Lochmuller H |
| Ref : J Neuromuscul Dis , 2 :S21 , 2015 |
| Abstract : Evangelista_2015_J.Neuromuscul.Dis_2_S21 |
| ESTHER : Evangelista_2015_J.Neuromuscul.Dis_2_S21 |
| PubMedSearch : Evangelista_2015_J.Neuromuscul.Dis_2_S21 |
| PubMedID: 26870666 |