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111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands.
Jungbluth H, Beggs A, Bönnemann C, Bushby K, Ceuterick-de Groote C, Estournet-Mathiaud B, Goemans N, Guicheney P, Lescure A, Lunardi J, Muntoni F, Quinlivan R, Sewry C, Straub V, Treves S, Ferreiro A. Jungbluth H, et al. Neuromuscul Disord. 2004 Nov;14(11):754-66. doi: 10.1016/j.nmd.2004.07.007. Neuromuscul Disord. 2004. PMID: 15482962 No abstract available.
Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes.
Ducreux S, Zorzato F, Ferreiro A, Jungbluth H, Muntoni F, Monnier N, Müller CR, Treves S. Ducreux S, et al. Among authors: jungbluth h. Biochem J. 2006 Apr 15;395(2):259-66. doi: 10.1042/BJ20051282. Biochem J. 2006. PMID: 16372898 Free PMC article.
Characterization of recessive RYR1 mutations in core myopathies.
Zhou H, Yamaguchi N, Xu L, Wang Y, Sewry C, Jungbluth H, Zorzato F, Bertini E, Muntoni F, Meissner G, Treves S. Zhou H, et al. Among authors: jungbluth h. Hum Mol Genet. 2006 Sep 15;15(18):2791-803. doi: 10.1093/hmg/ddl221. Epub 2006 Aug 29. Hum Mol Genet. 2006. PMID: 16940308 Free article.
299 results