| Title : Congenital myasthenic syndrome caused by novel COL13A1 mutations - Dusl_2019_J.Neurol_266_1107 |
| Author(s) : Dusl M , Moreno T , Munell F , Macaya A , Gratacos M , Abicht A , Strom TM , Lochmuller H , Senderek J |
| Ref : Journal of Neurology , 266 :1107 , 2019 |
| Abstract : |
| PubMedSearch : Dusl_2019_J.Neurol_266_1107 |
| PubMedID: 30767057 |
| 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 |
| Title : Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations - Guergueltcheva_2012_J.Neurol_259_838 |
| Author(s) : Guergueltcheva V , Muller JS , Dusl M , Senderek J , Oldfors A , Lindbergh C , Maxwell S , Colomer J , Mallebrera CJ , Nascimento A , Vilchez JJ , Muelas N , Kirschner J , Nafissi S , Kariminejad A , Nilipour Y , Bozorgmehr B , Najmabadi H , Rodolico C , Sieb JP , Schlotter B , Schoser B , Herrmann R , Voit T , Steinlein OK , Najafi A , Urtizberea A , Soler DM , Muntoni F , Hanna MG , Chaouch A , Straub V , Bushby K , Palace J , Beeson D , Abicht A , Lochmuller H |
| Ref : Journal of Neurology , 259 :838 , 2012 |
| Abstract : |
| PubMedSearch : Guergueltcheva_2012_J.Neurol_259_838 |
| PubMedID: 21975507 |