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MYO-MRI diagnostic protocols in genetic myopathies.
Warman Chardon J, Díaz-Manera J, Tasca G, Bönnemann CG, Gómez-Andrés D, Heerschap A, Mercuri E, Muntoni F, Pichiecchio A, Ricci E, Walter MC, Hanna M, Jungbluth H, Morrow JM, Fernández-Torrón R, Udd B, Vissing J, Yousry T, Quijano-Roy S, Straub V, Carlier RY; MYO-MRI Working Group. Warman Chardon J, et al. Among authors: straub v. Neuromuscul Disord. 2019 Nov;29(11):827-841. doi: 10.1016/j.nmd.2019.08.011. Epub 2019 Sep 16. Neuromuscul Disord. 2019. PMID: 31727541 Review.
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.
Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bönnemann C, Jungbluth H, Straub V, Villanova M, Leroy JP, Romero NB, Martin JJ, Muntoni F, Voit T, Estournet B, Richard P, Fardeau M, Guicheney P. Ferreiro A, et al. Among authors: straub v. Am J Hum Genet. 2002 Oct;71(4):739-49. doi: 10.1086/342719. Epub 2002 Aug 21. Am J Hum Genet. 2002. PMID: 12192640 Free PMC article.
98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The Netherlands.
Muntoni F, Bertini E, Bönnemann C, Brockington M, Brown S, Bushby K, Fiszman M, Körner C, Mercuri E, Merlini L, Hewitt J, Quijano-Roy S, Romero N, Squarzoni S, Sewry CA, Straub V, Topaloglu H, Haliloglu G, Voit T, Wewer U, Guicheney P. Muntoni F, et al. Among authors: straub v. Neuromuscul Disord. 2002 Nov;12(9):889-96. doi: 10.1016/s0960-8966(02)00068-8. Neuromuscul Disord. 2002. PMID: 12398845 No abstract available.
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
Mercuri E, Brockington M, Straub V, Quijano-Roy S, Yuva Y, Herrmann R, Brown SC, Torelli S, Dubowitz V, Blake DJ, Romero NB, Estournet B, Sewry CA, Guicheney P, Voit T, Muntoni F. Mercuri E, et al. Among authors: straub v. Ann Neurol. 2003 Apr;53(4):537-42. doi: 10.1002/ana.10559. Ann Neurol. 2003. PMID: 12666124
114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE).
Muntoni F, Valero de Bernabe B, Bittner R, Blake D, van Bokhoven H, Brockington M, Brown S, Bushby K, Campbell KP, Fiszman M, Gruenewald S, Merlini L, Quijano-Roy S, Romero N, Sabatelli P, Sewry CA, Straub V, Talim B, Topaloglu H, Voit T, Yurchenco PD, Urtizberea JA, Wewer UM, Guicheney P. Muntoni F, et al. Among authors: straub v. Neuromuscul Disord. 2003 Sep;13(7-8):579-88. doi: 10.1016/s0960-8966(03)00072-5. Neuromuscul Disord. 2003. PMID: 12921796 No abstract available.
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. Among authors: straub v. Neuromuscul Disord. 2004 Nov;14(11):754-66. doi: 10.1016/j.nmd.2004.07.007. Neuromuscul Disord. 2004. PMID: 15482962 No abstract available.
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.
Poppe M, Bourke J, Eagle M, Frosk P, Wrogemann K, Greenberg C, Muntoni F, Voit T, Straub V, Hilton-Jones D, Shirodaria C, Bushby K. Poppe M, et al. Among authors: straub v. Ann Neurol. 2004 Nov;56(5):738-41. doi: 10.1002/ana.20283. Ann Neurol. 2004. PMID: 15505776
492 results