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| 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 : Guergueltcheva_2012_J.Neurol_259_838 |
| ESTHER : Guergueltcheva_2012_J.Neurol_259_838 |
| PubMedSearch : Guergueltcheva_2012_J.Neurol_259_838 |
| PubMedID: 21975507 |
| Title : Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes - |
| Author(s) : Mihaylova V , Salih MA , Mukhtar MM , Abuzeid HA , El-Sadig SM , von der Hagen M , Huebner A , Nurnberg G , Abicht A , Muller JS , Lochmuller H , Guergueltcheva V |
| Ref : Neurology , 73 :1926 , 2009 |
| PubMedID: 19949040 |
| Title : Mutation history of the roma\/gypsies - Morar_2004_Am.J.Hum.Genet_75_596 |
| Author(s) : Morar B , Gresham D , Angelicheva D , Tournev I , Gooding R , Guergueltcheva V , Schmidt C , Abicht A , Lochmuller H , Tordai A , Kalmar L , Nagy M , Karcagi V , Jeanpierre M , Herczegfalvi A , Beeson D , Venkataraman V , Warwick Carter K , Reeve J , de Pablo R , Kucinskas V , Kalaydjieva L |
| Ref : American Journal of Human Genetics , 75 :596 , 2004 |
| Abstract : Morar_2004_Am.J.Hum.Genet_75_596 |
| ESTHER : Morar_2004_Am.J.Hum.Genet_75_596 |
| PubMedSearch : Morar_2004_Am.J.Hum.Genet_75_596 |
| PubMedID: 15322984 |