| 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 : |
| PubMedSearch : Natera-de Benito_2016_J.Neurol_263_517 |
| PubMedID: 26754003 |
| 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 |
| Title : Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine - Colomer_2006_Neuromuscul.Disord_16_329 |
| Author(s) : Colomer J , Muller JS , Vernet A , Nascimento A , Pons M , Gonzalez V , Abicht A , Lochmuller H |
| Ref : Neuromuscular Disorders , 16 :329 , 2006 |
| Abstract : |
| PubMedSearch : Colomer_2006_Neuromuscul.Disord_16_329 |
| PubMedID: 16621558 |