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The phenotype of limb-girdle muscular dystrophy type 2I.
Poppe M, Cree L, Bourke J, Eagle M, Anderson LV, Birchall D, Brockington M, Buddles M, Busby M, Muntoni F, Wills A, Bushby K. Poppe M, et al. Neurology. 2003 Apr 22;60(8):1246-51. doi: 10.1212/01.wnl.0000058902.88181.3d. Neurology. 2003. PMID: 12707425
Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?
Bauer R, Hudson J, Müller HD, Sommer C, Dekomien G, Bourke J, Routledge D, Bushby K, Klepper J, Straub V. Bauer R, et al. Eur J Hum Genet. 2009 Sep;17(9):1148-53. doi: 10.1038/ejhg.2009.17. Epub 2009 Mar 4. Eur J Hum Genet. 2009. PMID: 19259135 Free PMC article.
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study.
Cirak S, Arechavala-Gomeza V, Guglieri M, Feng L, Torelli S, Anthony K, Abbs S, Garralda ME, Bourke J, Wells DJ, Dickson G, Wood MJ, Wilton SD, Straub V, Kole R, Shrewsbury SB, Sewry C, Morgan JE, Bushby K, Muntoni F. Cirak S, et al. Lancet. 2011 Aug 13;378(9791):595-605. doi: 10.1016/S0140-6736(11)60756-3. Epub 2011 Jul 23. Lancet. 2011. PMID: 21784508 Free PMC article. Clinical Trial.
129 results