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Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.
Rudnik-Schöneborn S, Tölle D, Senderek J, Eggermann K, Elbracht M, Kornak U, von der Hagen M, Kirschner J, Leube B, Müller-Felber W, Schara U, von Au K, Wieczorek D, Bußmann C, Zerres K. Rudnik-Schöneborn S, et al. Among authors: schara u. Clin Genet. 2016 Jan;89(1):34-43. doi: 10.1111/cge.12594. Epub 2015 Apr 29. Clin Genet. 2016. PMID: 25850958
Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy.
Conrado DJ, Larkindale J, Berg A, Hill M, Burton J, Abrams KR, Abresch RT, Bronson A, Chapman D, Crowther M, Duong T, Gordish-Dressman H, Harnisch L, Henricson E, Kim S, McDonald CM, Schmidt S, Vong C, Wang X, Wong BL, Yong F, Romero K; Duchenne Muscular Dystrophy Regulatory Science Consortium (D-RSC). Conrado DJ, et al. J Pharmacokinet Pharmacodyn. 2019 Oct;46(5):441-455. doi: 10.1007/s10928-019-09642-7. Epub 2019 May 24. J Pharmacokinet Pharmacodyn. 2019. PMID: 31127458
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: schara u. 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: schara u. Neurology. 2003 Jun 10;60(11):1805-10. doi: 10.1212/01.wnl.0000072262.14931.80. Neurology. 2003. PMID: 12796535
Facing the genetic heterogeneity in neuromuscular disorders: linkage analysis as an economic diagnostic approach towards the molecular diagnosis.
von der Hagen M, Schallner J, Kaindl AM, Koehler K, Mitzscherling P, Abicht A, Grieben U, Korinthenberg R, Kress W, von Moers A, Müller JS, Schara U, Vorgerd M, Walter MC, Müller-Reible C, Hübner C, Lochmüller H, Huebner A. von der Hagen M, et al. Among authors: schara u. Neuromuscul Disord. 2006 Jan;16(1):4-13. doi: 10.1016/j.nmd.2005.10.001. Epub 2005 Dec 27. Neuromuscul Disord. 2006. PMID: 16378727
Phenotypic variability in siblings with calpainopathy (LGMD2A).
Schessl J, Walter MC, Schreiber G, Schara U, Müller CR, Lochmüller H, Bönnemann CG, Korinthenberg R, Kirschner J. Schessl J, et al. Among authors: schara u. Acta Myol. 2008 Oct;27(2):54-8. Acta Myol. 2008. PMID: 19364062 Free PMC article.
159 results