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692 results

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Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.
Mercuri E, Poppe M, Quinlivan R, Messina S, Kinali M, Demay L, Bourke J, Richard P, Sewry C, Pike M, Bonne G, Muntoni F, Bushby K. Mercuri E, et al. Among authors: bourke j. Arch Neurol. 2004 May;61(5):690-4. doi: 10.1001/archneur.61.5.690. Arch Neurol. 2004. PMID: 15148145
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. Among authors: bourke j. Neurology. 2003 Apr 22;60(8):1246-51. doi: 10.1212/01.wnl.0000058902.88181.3d. Neurology. 2003. PMID: 12707425
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: bourke j. Ann Neurol. 2004 Nov;56(5):738-41. doi: 10.1002/ana.20283. Ann Neurol. 2004. PMID: 15505776
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. Among authors: bourke j. 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.
Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protection Study): a protocol study.
Bourke JP, Watson G, Muntoni F, Spinty S, Roper H, Guglieri M, Speed C, McColl E, Chikermane A, Jayawant S, Adwani S, Willis T, Wilkinson J, Bryant A, Chadwick T, Wood R, Bushby K; DMD Heart Protection study group. Bourke JP, et al. BMJ Open. 2018 Dec 19;8(12):e022572. doi: 10.1136/bmjopen-2018-022572. BMJ Open. 2018. PMID: 30573480 Free PMC article.
Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations.
Bourke J, Turner C, Bradlow W, Chikermane A, Coats C, Fenton M, Ilina M, Johnson A, Kapetanakis S, Kuhwald L, Morley-Davies A, Quinlivan R, Savvatis K, Schiava M, Yousef Z, Guglieri M. Bourke J, et al. Open Heart. 2022 Oct;9(2):e001977. doi: 10.1136/openhrt-2022-001977. Open Heart. 2022. PMID: 36252992 Free PMC article. Review.
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. Among authors: bourke j. 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.
Preventing Cardiomyopathy in DMD: A Randomized Placebo-Controlled Drug Trial.
Bourke JP, Watson G, Spinty S, Bryant A, Roper H, Chadwick T, Wood R, McColl E, Bushby K, Muntoni F, Guglieri M; DMD Heart Study Group. Bourke JP, et al. Neurol Clin Pract. 2021 Oct;11(5):e661-e668. doi: 10.1212/CPJ.0000000000001023. Neurol Clin Pract. 2021. PMID: 34840880 Free PMC article.
692 results