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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. Among authors: quinlivan r. Open Heart. 2022 Oct;9(2):e001977. doi: 10.1136/openhrt-2022-001977. Open Heart. 2022. PMID: 36252992 Free PMC article. Review.
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: quinlivan r. Arch Neurol. 2004 May;61(5):690-4. doi: 10.1001/archneur.61.5.690. Arch Neurol. 2004. PMID: 15148145
Muscle histology vs MRI in Duchenne muscular dystrophy.
Kinali M, Arechavala-Gomeza V, Cirak S, Glover A, Guglieri M, Feng L, Hollingsworth KG, Hunt D, Jungbluth H, Roper HP, Quinlivan RM, Gosalakkal JA, Jayawant S, Nadeau A, Hughes-Carre L, Manzur AY, Mercuri E, Morgan JE, Straub V, Bushby K, Sewry C, Rutherford M, Muntoni F. Kinali M, et al. Among authors: quinlivan rm. Neurology. 2011 Jan 25;76(4):346-53. doi: 10.1212/WNL.0b013e318208811f. Neurology. 2011. PMID: 21263136 Free PMC article.
Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype.
Quinlivan R, Mitsuahashi S, Sewry C, Cirak S, Aoyama C, Mooore D, Abbs S, Robb S, Newton T, Moss C, Birchall D, Sugimoto H, Bushby K, Guglieri M, Muntoni F, Nishino I, Straub V. Quinlivan R, et al. Neuromuscul Disord. 2013 Jul;23(7):549-56. doi: 10.1016/j.nmd.2013.04.002. Epub 2013 May 18. Neuromuscul Disord. 2013. PMID: 23692895
Ataluren treatment of patients with nonsense mutation dystrophinopathy.
Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Lee Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'donnell MW, Peltz SW, Mcdonald CM; PTC124-GD-007-DMD STUDY GROUP. Bushby K, et al. Among authors: quinlivan r. Muscle Nerve. 2014 Oct;50(4):477-87. doi: 10.1002/mus.24332. Muscle Nerve. 2014. PMID: 25042182 Free PMC article. Clinical Trial.
Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A 30-Month Nonrandomized Controlled Open-Label Extension Trial.
Mah JK, Clemens PR, Guglieri M, Smith EC, Finkel RS, Tulinius M, Nevo Y, Ryan MM, Webster R, Castro D, Kuntz NL, McDonald CM, Damsker JM, Schwartz BD, Mengle-Gaw LJ, Jackowski S, Stimpson G, Ridout DA, Ayyar-Gupta V, Baranello G, Manzur AY, Muntoni F, Gordish-Dressman H, Leinonen M, Ward LM, Hoffman EP, Dang UJ; NorthStar UK Network and CINRG DNHS Investigators. Mah JK, et al. JAMA Netw Open. 2022 Jan 4;5(1):e2144178. doi: 10.1001/jamanetworkopen.2021.44178. JAMA Netw Open. 2022. PMID: 35076703 Free PMC article. Clinical Trial.
263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022.
Sarkozy A, Quinlivan R, Bourke JP, Ferlini A; ENMC 263rd Workshop Study Group. Sarkozy A, et al. Among authors: quinlivan r. Neuromuscul Disord. 2023 Mar;33(3):274-284. doi: 10.1016/j.nmd.2023.01.003. Epub 2023 Jan 12. Neuromuscul Disord. 2023. PMID: 36804616 No abstract available.
186 results