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Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
Guergueltcheva V, Müller 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, Lochmüller H. Guergueltcheva V, et al. Among authors: lochmuller h. J Neurol. 2012 May;259(5):838-50. doi: 10.1007/s00415-011-6262-z. Epub 2011 Oct 6. J Neurol. 2012. PMID: 21975507
[Effect of muscular work on the myosonogram].
Reimers CD, Lochmüller H, Goebels N, Schlotter B, Stempfle U. Reimers CD, et al. Among authors: lochmuller h. Ultraschall Med. 1995 Apr;16(2):79-83. doi: 10.1055/s-2007-1003992. Ultraschall Med. 1995. PMID: 7624761 German.
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: lochmuller h. Neurology. 1999 Oct 22;53(7):1564-9. doi: 10.1212/wnl.53.7.1564. Neurology. 1999. PMID: 10534268
Technology evaluation: edrecolomab, Centocor Inc.
Abicht A, Lochmüller H. Abicht A, et al. Among authors: lochmuller h. Curr Opin Mol Ther. 2000 Oct;2(5):593-600. Curr Opin Mol Ther. 2000. PMID: 11249762 Review.
673 results