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Infantile onset myofibrillar myopathy due to recessive CRYAB mutations.
Forrest KM, Al-Sarraj S, Sewry C, Buk S, Tan SV, Pitt M, Durward A, McDougall M, Irving M, Hanna MG, Matthews E, Sarkozy A, Hudson J, Barresi R, Bushby K, Jungbluth H, Wraige E. Forrest KM, et al. Among authors: jungbluth h. Neuromuscul Disord. 2011 Jan;21(1):37-40. doi: 10.1016/j.nmd.2010.11.003. Epub 2010 Dec 3. Neuromuscul Disord. 2011. PMID: 21130652
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.
Magnetic resonance imaging of muscle in nemaline myopathy.
Jungbluth H, Sewry CA, Counsell S, Allsop J, Chattopadhyay A, Mercuri E, North K, Laing N, Bydder G, Pelin K, Wallgren-Pettersson C, Muntoni F. Jungbluth H, et al. Neuromuscul Disord. 2004 Dec;14(12):779-84. doi: 10.1016/j.nmd.2004.08.005. Neuromuscul Disord. 2004. PMID: 15564032
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