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The mitochondrial brain: From mitochondrial genome to neurodegeneration.
Turnbull HE, Lax NZ, Diodato D, Ansorge O, Turnbull DM. Turnbull HE, et al. Among authors: turnbull dm. Biochim Biophys Acta. 2010 Jan;1802(1):111-21. doi: 10.1016/j.bbadis.2009.07.010. Epub 2009 Aug 6. Biochim Biophys Acta. 2010. PMID: 19647794 Free PMC article. Review.
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: turnbull dm. Brain. 2010 Mar;133(Pt 3):771-86. doi: 10.1093/brain/awq007. Epub 2010 Feb 15. Brain. 2010. PMID: 20157015 Free PMC article.
Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.
Lax NZ, Whittaker RG, Hepplewhite PD, Reeve AK, Blakely EL, Jaros E, Ince PG, Taylor RW, Fawcett PR, Turnbull DM. Lax NZ, et al. Among authors: turnbull dm. Brain. 2012 Jan;135(Pt 1):62-71. doi: 10.1093/brain/awr326. Epub 2011 Dec 20. Brain. 2012. PMID: 22189570 Free PMC article.
Loss of myelin-associated glycoprotein in kearns-sayre syndrome.
Lax NZ, Campbell GR, Reeve AK, Ohno N, Zambonin J, Blakely EL, Taylor RW, Bonilla E, Tanji K, DiMauro S, Jaros E, Lassmann H, Turnbull DM, Mahad DJ. Lax NZ, et al. Among authors: turnbull dm. Arch Neurol. 2012 Apr;69(4):490-9. doi: 10.1001/archneurol.2011.2167. Arch Neurol. 2012. PMID: 22491194 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: turnbull dm. 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.
600 results