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Page 1
Muscle Pathology as a Diagnostic Clue to Allgrove Syndrome.
Reimann J, Kohlschmidt N, Tolksdorf K, Weis J, Kuchelmeister K, Roos A. Reimann J, et al. Among authors: roos a. J Neuropathol Exp Neurol. 2017 May 1;76(5):337-341. doi: 10.1093/jnen/nlx016. J Neuropathol Exp Neurol. 2017. PMID: 28371804
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.
Arnaud E, Zenker J, de Preux Charles AS, Stendel C, Roos A, Médard JJ, Tricaud N, Kleine H, Luscher B, Weis J, Suter U, Senderek J, Chrast R. Arnaud E, et al. Among authors: roos a. Proc Natl Acad Sci U S A. 2009 Oct 13;106(41):17528-33. doi: 10.1073/pnas.0905523106. Epub 2009 Sep 29. Proc Natl Acad Sci U S A. 2009. PMID: 19805030 Free PMC article.
Novel FHL1 mutation in a family with reducing body myopathy.
Schreckenbach T, Henn W, Kress W, Roos A, Maschke M, Feiden W, Dillmann U, Schulz JB, Weis J, Claeys KG. Schreckenbach T, et al. Among authors: roos a. Muscle Nerve. 2013 Jan;47(1):127-34. doi: 10.1002/mus.23500. Epub 2012 Nov 21. Muscle Nerve. 2013. PMID: 23169582
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Häussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schöneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J. Krieger M, et al. Among authors: roos a. Brain. 2013 Dec;136(Pt 12):3634-44. doi: 10.1093/brain/awt283. Epub 2013 Oct 30. Brain. 2013. PMID: 24176978 Free 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: roos a. 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.
Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology.
Roos A, Buchkremer S, Kollipara L, Labisch T, Gatz C, Zitzelsberger M, Brauers E, Nolte K, Schröder JM, Kirschner J, Jesse CM, Goebel HH, Goswami A, Zimmermann R, Zahedi RP, Senderek J, Weis J. Roos A, et al. Acta Neuropathol. 2014 May;127(5):761-77. doi: 10.1007/s00401-013-1224-4. Epub 2013 Dec 21. Acta Neuropathol. 2014. PMID: 24362440
1,669 results