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A novel desmin R355P mutation causes cardiac and skeletal myopathy.
Fidziańska A, Kotowicz J, Sadowska M, Goudeau B, Walczak E, Vicart P, Hausmanowa-Petrusewicz I. Fidziańska A, et al. Among authors: goudeau b. Neuromuscul Disord. 2005 Aug;15(8):525-31. doi: 10.1016/j.nmd.2005.05.006. Neuromuscul Disord. 2005. PMID: 16009553
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.
Schröder R, Goudeau B, Simon MC, Fischer D, Eggermann T, Clemen CS, Li Z, Reimann J, Xue Z, Rudnik-Schöneborn S, Zerres K, van der Ven PF, Fürst DO, Kunz WS, Vicart P. Schröder R, et al. Among authors: goudeau b. Hum Mol Genet. 2003 Mar 15;12(6):657-69. doi: 10.1093/hmg/ddg060. Hum Mol Genet. 2003. PMID: 12620971
Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.
Avila-Smirnow D, Gueneau L, Batonnet-Pichon S, Delort F, Bécane HM, Claeys K, Beuvin M, Goudeau B, Jais JP, Nelson I, Richard P, Ben Yaou R, Romero NB, Wahbi K, Mathis S, Voit T, Furst D, van der Ven P, Gil R, Vicart P, Fardeau M, Bonne G, Behin A. Avila-Smirnow D, et al. Among authors: goudeau b. Rev Neurol (Paris). 2016 Oct;172(10):594-606. doi: 10.1016/j.neurol.2016.07.017. Epub 2016 Sep 12. Rev Neurol (Paris). 2016. PMID: 27633507 Review.
Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies.
Clemen CS, Fischer D, Roth U, Simon S, Vicart P, Kato K, Kaminska AM, Vorgerd M, Goldfarb LG, Eymard B, Romero NB, Goudeau B, Eggermann T, Zerres K, Noegel AA, Schröder R. Clemen CS, et al. Among authors: goudeau b. FEBS Lett. 2005 Jul 4;579(17):3777-82. doi: 10.1016/j.febslet.2005.05.051. FEBS Lett. 2005. PMID: 15978589 Free article.
62 results