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Page 1
Habitual physical activity in mitochondrial disease.
Apabhai S, Gorman GS, Sutton L, Elson JL, Plötz T, Turnbull DM, Trenell MI. Apabhai S, et al. Among authors: gorman gs. PLoS One. 2011;6(7):e22294. doi: 10.1371/journal.pone.0022294. Epub 2011 Jul 22. PLoS One. 2011. PMID: 21799815 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.
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.
Reilich P, Horvath R, Krause S, Schramm N, Turnbull DM, Trenell M, Hollingsworth KG, Gorman GS, Hans VH, Reimann J, MacMillan A, Turner L, Schollen A, Witte G, Czermin B, Holinski-Feder E, Walter MC, Schoser B, Lochmüller H. Reilich P, et al. Among authors: gorman gs. J Neurol. 2011 Nov;258(11):1987-97. doi: 10.1007/s00415-011-6055-4. Epub 2011 May 5. J Neurol. 2011. PMID: 21544567
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.
Pitceathly RD, Smith C, Fratter C, Alston CL, He L, Craig K, Blakely EL, Evans JC, Taylor J, Shabbir Z, Deschauer M, Pohl U, Roberts ME, Jackson MC, Halfpenny CA, Turnpenny PD, Lunt PW, Hanna MG, Schaefer AM, McFarland R, Horvath R, Chinnery PF, Turnbull DM, Poulton J, Taylor RW, Gorman GS. Pitceathly RD, et al. Among authors: gorman gs. Brain. 2012 Nov;135(Pt 11):3392-403. doi: 10.1093/brain/aws231. Epub 2012 Oct 29. Brain. 2012. PMID: 23107649 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.
Initial development and validation of a mitochondrial disease quality of life scale.
Elson JL, Cadogan M, Apabhai S, Whittaker RG, Phillips A, Trennell MI, Horvath R, Taylor RW, McFarland R, McColl E, Turnbull DM, Gorman GS. Elson JL, et al. Among authors: gorman gs. Neuromuscul Disord. 2013 Apr;23(4):324-9. doi: 10.1016/j.nmd.2012.12.012. Epub 2013 Feb 20. Neuromuscul Disord. 2013. PMID: 23433484 Free PMC article.
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.
156 results