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Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiß C, Johannsen J, Friese J, Hahn A, Ziegler A, Illsinger S, Smitka M, von Moers A, Kölbel H, Schreiber G, Kaiser N, Wilichowski E, Flotats-Bastardas M, Husain RA, Baumann M, Köhler C, Trollmann R, Schwerin-Nagel A, Eisenkölbl A, Schimmel M, Fleger M, Kauffmann B, Wiegand G, Baumgartner M, Rauscher C, Cirak S, Gläser D, Bernert G, Hagenacker T, Goldbach S, Probst-Schendzielorz K, Lochmüller H, Müller-Felber W, Schara-Schmidt U, Walter MC, Kirschner J, Pechmann A; SMARTCARE study group. Schwartz O, et al. Among authors: kirschner j. JAMA Pediatr. 2024 Apr 8:e240492. doi: 10.1001/jamapediatrics.2024.0492. Online ahead of print. JAMA Pediatr. 2024. PMID: 38587854
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.
Kley RA, Hellenbroich Y, van der Ven PF, Fürst DO, Huebner A, Bruchertseifer V, Peters SA, Heyer CM, Kirschner J, Schröder R, Fischer D, Müller K, Tolksdorf K, Eger K, Germing A, Brodherr T, Reum C, Walter MC, Lochmüller H, Ketelsen UP, Vorgerd M. Kley RA, et al. Among authors: kirschner j. Brain. 2007 Dec;130(Pt 12):3250-64. doi: 10.1093/brain/awm271. Brain. 2007. PMID: 18055494 Review.
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: kirschner j. Acta Myol. 2008 Oct;27(2):54-8. Acta Myol. 2008. PMID: 19364062 Free PMC article.
Treatment of Duchenne muscular dystrophy with ciclosporin A: a randomised, double-blind, placebo-controlled multicentre trial.
Kirschner J, Schessl J, Schara U, Reitter B, Stettner GM, Hobbiebrunken E, Wilichowski E, Bernert G, Weiss S, Stehling F, Wiegand G, Müller-Felber W, Thiele S, Grieben U, von der Hagen M, Lütschg J, Schmoor C, Ihorst G, Korinthenberg R. Kirschner J, et al. Lancet Neurol. 2010 Nov;9(11):1053-9. doi: 10.1016/S1474-4422(10)70196-4. Epub 2010 Aug 26. Lancet Neurol. 2010. PMID: 20801085 Clinical Trial.
Sarcoglycanopathies.
Kirschner J, Lochmüller H. Kirschner J, et al. Handb Clin Neurol. 2011;101:41-6. doi: 10.1016/B978-0-08-045031-5.00003-7. Handb Clin Neurol. 2011. PMID: 21496623 Review.
Somatropin treatment of spinal muscular atrophy: a placebo-controlled, double-blind crossover pilot study.
Kirschner J, Schorling D, Hauschke D, Rensing-Zimmermann C, Wein U, Grieben U, Schottmann G, Schara U, Konrad K, Müller-Felber W, Thiele S, Wilichowski E, Hobbiebrunken E, Stettner GM, Korinthenberg R. Kirschner J, et al. Neuromuscul Disord. 2014 Feb;24(2):134-42. doi: 10.1016/j.nmd.2013.10.011. Epub 2013 Nov 13. Neuromuscul Disord. 2014. PMID: 24300782 Clinical Trial.
500 results