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156 results

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Page 1
Rapid identification of human muscle disease with fibre optic Raman spectroscopy.
Alix JJP, Plesia M, Lloyd GR, Dudgeon AP, Kendall CA, Hewamadduma C, Hadjivassiliou M, McDermott CJ, Gorman GS, Taylor RW, Shaw PJ, Day JCC. Alix JJP, et al. Among authors: gorman gs. Analyst. 2022 May 30;147(11):2533-2540. doi: 10.1039/d1an01932e. Analyst. 2022. PMID: 35545877 Free PMC article.
Multi-system neurological disease is common in patients with OPA1 mutations.
Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, Toscano A, Musumeci O, Valentino ML, Caporali L, Lamperti C, Tallaksen CM, Duffey P, Miller J, Whittaker RG, Baker MR, Jackson MJ, Clarke MP, Dhillon B, Czermin B, Stewart JD, Hudson G, Reynier P, Bonneau D, Marques W Jr, Lenaers G, McFarland R, Taylor RW, Turnbull DM, Votruba M, Zeviani M, Carelli V, Bindoff LA, Horvath R, Amati-Bonneau P, Chinnery PF. Yu-Wai-Man P, et al. Among authors: gorman gs. Brain. 2010 Mar;133(Pt 3):771-86. doi: 10.1093/brain/awq007. Epub 2010 Feb 15. Brain. 2010. PMID: 20157015 Free PMC article.
Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers.
Bates MG, Hollingsworth KG, Newman JH, Jakovljevic DG, Blamire AM, MacGowan GA, Keavney BD, Chinnery PF, Turnbull DM, Taylor RW, Trenell MI, Gorman GS. Bates MG, et al. Among authors: gorman gs. Eur Heart J Cardiovasc Imaging. 2013 Jul;14(7):650-8. doi: 10.1093/ehjci/jes226. Epub 2012 Nov 4. Eur Heart J Cardiovasc Imaging. 2013. PMID: 23129433 Free PMC 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: gorman gs. Hum Mutat. 2013 Aug;34(8):1111-8. doi: 10.1002/humu.22342. Epub 2013 Jun 12. Hum Mutat. 2013. PMID: 23606453
Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease.
Bates MG, Newman JH, Jakovljevic DG, Hollingsworth KG, Alston CL, Zalewski P, Klawe JJ, Blamire AM, MacGowan GA, Keavney BD, Bourke JP, Schaefer A, McFarland R, Newton JL, Turnbull DM, Taylor RW, Trenell MI, Gorman GS. Bates MG, et al. Among authors: gorman gs. Int J Cardiol. 2013 Oct 9;168(4):3599-608. doi: 10.1016/j.ijcard.2013.05.062. Epub 2013 Jun 3. Int J Cardiol. 2013. PMID: 23742928 Free PMC article.
Disease progression in patients with single, large-scale mitochondrial DNA deletions.
Grady JP, Campbell G, Ratnaike T, Blakely EL, Falkous G, Nesbitt V, Schaefer AM, McNally RJ, Gorman GS, Taylor RW, Turnbull DM, McFarland R. Grady JP, et al. Among authors: gorman gs. Brain. 2014 Feb;137(Pt 2):323-34. doi: 10.1093/brain/awt321. Epub 2013 Nov 25. Brain. 2014. PMID: 24277717 Free PMC article.
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath R, Taylor RW, Chinnery PF. Pfeffer G, et al. Among authors: gorman gs. Brain. 2014 May;137(Pt 5):1323-36. doi: 10.1093/brain/awu060. Epub 2014 Apr 10. Brain. 2014. PMID: 24727571 Free PMC article.
156 results