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Morphological spectrum and clinical features of myopathies with tubular aggregates.
Funk F, Ceuterick-de Groote C, Martin JJ, Meinhardt A, Taratuto AL, De Bleecker J, Van Coster R, De Paepe B, Schara U, Vorgerd M, Häusler M, Koppi S, Maschke M, De Jonghe P, Van Maldergem L, Noel S, Zimmermann CW, Wirth S, Isenmann S, Stadler R, Schröder JM, Schulz JB, Weis J, Claeys KG. Funk F, et al. Among authors: schroder jm. Histol Histopathol. 2013 Aug;28(8):1041-54. doi: 10.14670/HH-28.1041. Epub 2013 Mar 12. Histol Histopathol. 2013. PMID: 23479431
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.
Semmler AL, Sacconi S, Bach JE, Liebe C, Bürmann J, Kley RA, Ferbert A, Anderheiden R, Van den Bergh P, Martin JJ, De Jonghe P, Neuen-Jacob E, Müller O, Deschauer M, Bergmann M, Schröder JM, Vorgerd M, Schulz JB, Weis J, Kress W, Claeys KG. Semmler AL, et al. Among authors: schroder jm. Orphanet J Rare Dis. 2014 Aug 1;9:121. doi: 10.1186/s13023-014-0121-9. Orphanet J Rare Dis. 2014. PMID: 25208129 Free PMC article.
Novel TPM3 mutation in a family with cap myopathy and review of the literature.
Schreckenbach T, Schröder JM, Voit T, Abicht A, Neuen-Jacob E, Roos A, Bulst S, Kuhl C, Schulz JB, Weis J, Claeys KG. Schreckenbach T, et al. Among authors: schroder jm. Neuromuscul Disord. 2014 Feb;24(2):117-24. doi: 10.1016/j.nmd.2013.10.002. Epub 2013 Oct 23. Neuromuscul Disord. 2014. PMID: 24239060 Review.
450 results