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FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.
Walter MC, Petersen JA, Stucka R, Fischer D, Schröder R, Vorgerd M, Schroers A, Schreiber H, Hanemann CO, Knirsch U, Rosenbohm A, Huebner A, Barisic N, Horvath R, Komoly S, Reilich P, Müller-Felber W, Pongratz D, Müller JS, Auerswald EA, Lochmüller H. Walter MC, et al. Among authors: fischer d. J Med Genet. 2004 Apr;41(4):e50. doi: 10.1136/jmg.2003.013953. J Med Genet. 2004. PMID: 15060126 Free PMC article. No abstract available.
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs.
Fischer D, Walter MC, Kesper K, Petersen JA, Aurino S, Nigro V, Kubisch C, Meindl T, Lochmüller H, Wilhelm K, Urbach H, Schröder R. Fischer D, et al. J Neurol. 2005 May;252(5):538-47. doi: 10.1007/s00415-005-0684-4. Epub 2005 Feb 23. J Neurol. 2005. PMID: 15726252
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: fischer d. Brain. 2007 Dec;130(Pt 12):3250-64. doi: 10.1093/brain/awm271. Brain. 2007. PMID: 18055494 Review.
Spinal schwannoma mimicking lower limb SMA.
Fischer D, Brunn A, Schröder JM, Reul J, Schröder R. Fischer D, et al. Neurology. 2002 Nov 12;59(9):1420. doi: 10.1212/wnl.59.9.1420. Neurology. 2002. PMID: 12427894 No abstract available.
2,410 results