1. 1106 The clinical phenotypic spectrum of GFPT1 associated congenital myasthenic syndrome. Issue 3 (9th February 2012) Authors: Chaouch, A; Mueller, J S; Guergueltcheva, V; Muntoni, F; Bushby, K; Straub, V; Palace, J; Beeson, D; Abicht, A; Lochmuller, H Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 83:Issue 3(2012) Page Start: e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Molecular characterisation of congenital myasthenic syndromes in Southern Brazil. Issue 9 (20th June 2010) Authors: Mihaylova, V; Scola, R H; Gervini, B; Lorenzoni, P J; Kay, C K; Werneck, L C; Stucka, R; Guergueltcheva, V; von der Hagen, M; Huebner, A; Abicht, A; Müller, J S; Lochmüller, H Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 81:Issue 9(2010) Page Start: 973 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗