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A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.
Abicht A, Stucka R, Karcagi V, Herczegfalvi A, Horváth R, Mortier W, Schara U, Ramaekers V, Jost W, Brunner J, Janssen G, Seidel U, Schlotter B, Müller-Felber W, Pongratz D, Rüdel R, Lochmüller H. Abicht A, et al. Among authors: mortier w. Neurology. 1999 Oct 22;53(7):1564-9. doi: 10.1212/wnl.53.7.1564. Neurology. 1999. PMID: 10534268
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.
Müller JS, Mildner G, Müller-Felber W, Schara U, Krampfl K, Petersen B, Petrova S, Stucka R, Mortier W, Bufler J, Kurlemann G, Huebner A, Merlini L, Lochmüller H, Abicht A. Müller JS, et al. Among authors: mortier w. Neurology. 2003 Jun 10;60(11):1805-10. doi: 10.1212/01.wnl.0000072262.14931.80. Neurology. 2003. PMID: 12796535
Rippling muscle disease in childhood.
Schara U, Vorgerd M, Popovic N, Schoser BG, Ricker K, Mortier W. Schara U, et al. Among authors: mortier w. J Child Neurol. 2002 Jul;17(7):483-90. doi: 10.1177/088307380201700703. J Child Neurol. 2002. PMID: 12269726
Mutation analysis in myophosphorylase deficiency (McArdle's disease).
Vorgerd M, Kubisch C, Burwinkel B, Reichmann H, Mortier W, Tettenborn B, Pongratz D, Lindemuth R, Tegenthoff M, Malin JP, Kilimann MW. Vorgerd M, et al. Among authors: mortier w. Ann Neurol. 1998 Mar;43(3):326-31. doi: 10.1002/ana.410430310. Ann Neurol. 1998. PMID: 9506549
[Neuromuscular diseases 2: muscular dystrophies (MD)].
Schara U, Mortier W. Schara U, et al. Among authors: mortier w. Nervenarzt. 2005 Feb;76(2):219-37; quiz 238-9. doi: 10.1007/s00115-004-1847-8. Nervenarzt. 2005. PMID: 16092148 Review. German.
75 results