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Page 1
Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre.
Bugiardini E, Khan AM, Phadke R, Lynch DS, Cortese A, Feng L, Gang Q, Pittman AM, Morrow JM, Turner C, Carr AS, Quinlivan R, Rossor AM, Holton JL, Parton M, Blake JC, Reilly MM, Houlden H, Matthews E, Hanna MG. Bugiardini E, et al. Among authors: turner c. Neuromuscul Disord. 2019 Oct;29(10):747-757. doi: 10.1016/j.nmd.2019.08.003. Epub 2019 Aug 19. Neuromuscul Disord. 2019. PMID: 31561939
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.
Scalco RS, Gardiner AR, Pitceathly RD, Hilton-Jones D, Schapira AH, Turner C, Parton M, Desikan M, Barresi R, Marsh J, Manzur AY, Childs AM, Feng L, Murphy E, Lamont PJ, Ravenscroft G, Wallefeld W, Davis MR, Laing NG, Holton JL, Fialho D, Bushby K, Hanna MG, Phadke R, Jungbluth H, Houlden H, Quinlivan R. Scalco RS, et al. Among authors: turner c. Neuromuscul Disord. 2016 Aug;26(8):504-10. doi: 10.1016/j.nmd.2016.05.006. Epub 2016 May 11. Neuromuscul Disord. 2016. PMID: 27312022 Free article.
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.
Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, Deschauer M, Harris E, Rufibach L, Hwang E, Bashir R, Walter MC, Krause S, van den Bergh P, Illa I, Pénisson-Besnier I, De Waele L, Turnbull D, Guglieri M, Schrank B, Schoser B, Seeger J, Schreiber H, Gläser D, Eagle M, Bailey G, Walters R, Longman C, Norwood F, Winer J, Muntoni F, Hanna M, Roberts M, Bindoff LA, Brierley C, Cooper RG, Cottrell DA, Davies NP, Gibson A, Gorman GS, Hammans S, Jackson AP, Khan A, Lane R, McConville J, McEntagart M, Al-Memar A, Nixon J, Panicker J, Parton M, Petty R, Price CJ, Rakowicz W, Ray P, Schapira AH, Swingler R, Turner C, Wagner KR, Maddison P, Shaw PJ, Straub V, Bushby K, Lochmüller H. Sarkozy A, et al. Among authors: turner c. Hum Mutat. 2013 Aug;34(8):1111-8. doi: 10.1002/humu.22342. Epub 2013 Jun 12. Hum Mutat. 2013. PMID: 23606453
A multicentre postal survey investigating the contribution of illness perceptions, coping and optimism to quality of life and mood in adults with muscle disease.
Graham CD, Weinman J, Sadjadi R, Chalder T, Petty R, Hanna MG, Turner C, Parton M, Maddison P, Radunovic A, Longman C, Robb Y, Bushby K, Hilton-Jones D, Rose MR. Graham CD, et al. Among authors: turner c. Clin Rehabil. 2014 May;28(5):508-19. doi: 10.1177/0269215513511340. Epub 2013 Nov 15. Clin Rehabil. 2014. PMID: 24240060
Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy.
Morís G, Wood L, FernáNdez-Torrón R, González Coraspe JA, Turner C, Hilton-Jones D, Norwood F, Willis T, Parton M, Rogers M, Hammans S, Roberts M, Househam E, Williams M, Lochmüller H, Evangelista T. Morís G, et al. Among authors: turner c. Muscle Nerve. 2018 Mar;57(3):380-387. doi: 10.1002/mus.25991. Epub 2017 Nov 7. Muscle Nerve. 2018. PMID: 29053898 Free PMC article.
3,268 results