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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: krause s. 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.
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
Hicks D, Sarkozy A, Muelas N, Köehler K, Huebner A, Hudson G, Chinnery PF, Barresi R, Eagle M, Polvikoski T, Bailey G, Miller J, Radunovic A, Hughes PJ, Roberts R, Krause S, Walter MC, Laval SH, Straub V, Lochmüller H, Bushby K. Hicks D, et al. Among authors: krause s. Brain. 2011 Jan;134(Pt 1):171-182. doi: 10.1093/brain/awq294. Brain. 2011. PMID: 21186264 Free PMC article.
Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle.
Klymiuk N, Blutke A, Graf A, Krause S, Burkhardt K, Wuensch A, Krebs S, Kessler B, Zakhartchenko V, Kurome M, Kemter E, Nagashima H, Schoser B, Herbach N, Blum H, Wanke R, Aartsma-Rus A, Thirion C, Lochmüller H, Walter MC, Wolf E. Klymiuk N, et al. Among authors: krause s. Hum Mol Genet. 2013 Nov 1;22(21):4368-82. doi: 10.1093/hmg/ddt287. Epub 2013 Jun 19. Hum Mol Genet. 2013. PMID: 23784375
Analysis of HLA class I and II alleles in sporadic inclusion-body myositis.
Lampe JB, Gossrau G, Kempe A, Füssel M, Schwurack K, Schröder R, Krause S, Kohnen R, Walter MC, Reichmann H, Lochmüller H. Lampe JB, et al. Among authors: krause s. J Neurol. 2003 Nov;250(11):1313-7. doi: 10.1007/s00415-003-0204-3. J Neurol. 2003. PMID: 14648147
Missense mutations of ACTA1 cause dominant congenital myopathy with cores.
Kaindl AM, Rüschendorf F, Krause S, Goebel HH, Koehler K, Becker C, Pongratz D, Müller-Höcker J, Nürnberg P, Stoltenburg-Didinger G, Lochmüller H, Huebner A. Kaindl AM, et al. Among authors: krause s. J Med Genet. 2004 Nov;41(11):842-8. doi: 10.1136/jmg.2004.020271. J Med Genet. 2004. PMID: 15520409 Free PMC article. No abstract available.
1,032 results