Title : Anti-LRP4 autoantibodies in AChR- and MuSK-antibody-negative myasthenia gravis - Pevzner_2012_J.Neurol_259_427 |
Author(s) : Pevzner A , Schoser B , Peters K , Cosma NC , Karakatsani A , Schalke B , Melms A , Kroger S |
Ref : Journal of Neurology , 259 :427 , 2012 |
Abstract : |
PubMedSearch : Pevzner_2012_J.Neurol_259_427 |
PubMedID: 21814823 |
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 : The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene - Reilich_2011_J.Neurol_258_1987 |
Author(s) : Reilich P , Horvath R , Krause S , Schramm N , Turnbull DM , Trenell M , Hollingsworth KG , Gorman GS , Hans VH , Reimann J , MacMillan A , Turner L , Schollen A , Witte G , Czermin B , Holinski-Feder E , Walter MC , Schoser B , Lochmuller H |
Ref : Journal of Neurology , 258 :1987 , 2011 |
Abstract : |
PubMedSearch : Reilich_2011_J.Neurol_258_1987 |
PubMedID: 21544567 |
Title : Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two - Schoser_2009_Neuromuscul.Disord_19_223 |
Author(s) : Schoser B , Jacob S , Hilton-Jones D , Muller-Felber W , Kubisch C , Claus D , Goebel HH , Vita G , Vincent A , Toscano A , Van den Bergh P |
Ref : Neuromuscular Disorders , 19 :223 , 2009 |
Abstract : |
PubMedSearch : Schoser_2009_Neuromuscul.Disord_19_223 |
PubMedID: 19208478 |