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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 : Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes - Mihaylova_2008_Brain_131_747 |
| Author(s) : Mihaylova V , Muller JS , Vilchez JJ , Salih MA , Kabiraj MM , D'Amico A , Bertini E , Wolfle J , Schreiner F , Kurlemann G , Rasic VM , Siskova D , Colomer J , Herczegfalvi A , Fabriciova K , Weschke B , Scola R , Hoellen F , Schara U , Abicht A , Lochmuller H |
| Ref : Brain , 131 :747 , 2008 |
| Abstract : Mihaylova_2008_Brain_131_747 |
| ESTHER : Mihaylova_2008_Brain_131_747 |
| PubMedSearch : Mihaylova_2008_Brain_131_747 |
| PubMedID: 18180250 |
| Title : The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4 - Claramunt_2007_Clin.Genet_71_343 |
| Author(s) : Claramunt R , Sevilla T , Lupo V , Cuesta A , Millan JM , Vilchez JJ , Palau F , Espinos C |
| Ref : Clin Genet , 71 :343 , 2007 |
| Abstract : Claramunt_2007_Clin.Genet_71_343 |
| ESTHER : Claramunt_2007_Clin.Genet_71_343 |
| PubMedSearch : Claramunt_2007_Clin.Genet_71_343 |
| PubMedID: 17470135 |
| Gene_locus related to this paper: human-NDRG1 |