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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: schlotter b. Neurology. 1999 Oct 22;53(7):1564-9. doi: 10.1212/wnl.53.7.1564. Neurology. 1999. PMID: 10534268
Phenotypic variability in two brothers with sarcotubular myopathy.
Müller-Felber W, Schlotter B, Töpfer M, Ketelsen UP, Müller-Höcker J, Pongratz D. Müller-Felber W, et al. Among authors: schlotter b. J Neurol. 1999 May;246(5):408-11. doi: 10.1007/s004150050374. J Neurol. 1999. PMID: 10399877 No abstract available.
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: schlotter b. 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: schlotter b. Ultraschall Med. 1995 Apr;16(2):79-83. doi: 10.1055/s-2007-1003992. Ultraschall Med. 1995. PMID: 7624761 German.
[26-year-old female patient with elevated liver enzymes].
Martin K, Schlotter B, Müller-Höcker J, Loeschke K, Pongratz D, Folwaczny C. Martin K, et al. Among authors: schlotter b. Z Gastroenterol. 2002 Oct;40(10):885-90. doi: 10.1055/s-2002-35263. Z Gastroenterol. 2002. PMID: 12436356 German.
Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P.
Reilich P, Schlotter B, Montagnese F, Jordan B, Stock F, Schäff-Vogelsang M, Hotter B, Eger K, Diebold I, Erdmann H, Becker K, Schön U, Abicht A. Reilich P, et al. Among authors: schlotter b. Neuromuscul Disord. 2021 Feb;31(2):123-133. doi: 10.1016/j.nmd.2020.11.011. Epub 2020 Nov 28. Neuromuscul Disord. 2021. PMID: 33414056
18 results