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Page 1
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.
Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang RZ, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, Flanigan KM, Chu ML, Muntoni F, Bushby KM, Bönnemann CG. Lampe AK, et al. Among authors: straub v. Hum Mutat. 2008 Jun;29(6):809-22. doi: 10.1002/humu.20704. Hum Mutat. 2008. PMID: 18366090
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake DJ, Muntoni F. Brockington M, et al. Among authors: straub v. Hum Mol Genet. 2001 Dec 1;10(25):2851-9. doi: 10.1093/hmg/10.25.2851. Hum Mol Genet. 2001. PMID: 11741828
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.
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
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.
Frosk P, Greenberg CR, Tennese AA, Lamont R, Nylen E, Hirst C, Frappier D, Roslin NM, Zaik M, Bushby K, Straub V, Zatz M, de Paula F, Morgan K, Fujiwara TM, Wrogemann K. Frosk P, et al. Among authors: straub v. Hum Mutat. 2005 Jan;25(1):38-44. doi: 10.1002/humu.20110. Hum Mutat. 2005. PMID: 15580560
Nonmolecular treatment for muscular dystrophies.
Bushby K, Straub V. Bushby K, et al. Among authors: straub v. Curr Opin Neurol. 2005 Oct;18(5):511-8. doi: 10.1097/01.wco.0000181326.86292.aa. Curr Opin Neurol. 2005. PMID: 16155433 Review.
The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice.
von der Hagen M, Laval SH, Cree LM, Haldane F, Pocock M, Wappler I, Peters H, Reitsamer HA, Hoger H, Wiedner M, Oberndorfer F, Anderson LV, Straub V, Bittner RE, Bushby KM. von der Hagen M, et al. Among authors: straub v. Neuromuscul Disord. 2005 Dec;15(12):863-77. doi: 10.1016/j.nmd.2005.09.002. Epub 2005 Nov 8. Neuromuscul Disord. 2005. PMID: 16288871
493 results