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Page 1
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmüller H. Senderek J, et al. Among authors: schlotter b. Am J Hum Genet. 2011 Feb 11;88(2):162-72. doi: 10.1016/j.ajhg.2011.01.008. Am J Hum Genet. 2011. PMID: 21310273 Free PMC article.
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
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease.
Hunter M, Bernard R, Freitas E, Boyer A, Morar B, Martins IJ, Tournev I, Jordanova A, Guergelcheva V, Ishpekova B, Kremensky I, Nicholson G, Schlotter B, Lochmüller H, Voit T, Colomer J, Thomas PK, Levy N, Kalaydjieva L. Hunter M, et al. Among authors: schlotter b. Hum Mutat. 2003 Aug;22(2):129-35. doi: 10.1002/humu.10240. Hum Mutat. 2003. PMID: 12872253
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
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
[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.
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.
18 results