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Page 1
Emerging therapies for mitochondrial disorders.
Nightingale H, Pfeffer G, Bargiela D, Horvath R, Chinnery PF. Nightingale H, et al. Brain. 2016 Jun;139(Pt 6):1633-48. doi: 10.1093/brain/aww081. Epub 2016 May 3. Brain. 2016. PMID: 27190030 Free PMC article. Review.
Mitochondrial DNA mutations in neurodegeneration.
Keogh MJ, Chinnery PF. Keogh MJ, et al. Biochim Biophys Acta. 2015 Nov;1847(11):1401-11. doi: 10.1016/j.bbabio.2015.05.015. Epub 2015 May 23. Biochim Biophys Acta. 2015. PMID: 26014345 Free article. Review.
Childhood-onset Leber hereditary optic neuropathy.
Majander A, Bowman R, Poulton J, Antcliff RJ, Reddy MA, Michaelides M, Webster AR, Chinnery PF, Votruba M, Moore AT, Yu-Wai-Man P. Majander A, et al. Br J Ophthalmol. 2017 Nov;101(11):1505-1509. doi: 10.1136/bjophthalmol-2016-310072. Epub 2017 Mar 17. Br J Ophthalmol. 2017. PMID: 28314831 Free article.
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
Haghighi A, Haack TB, Atiq M, Mottaghi H, Haghighi-Kakhki H, Bashir RA, Ahting U, Feichtinger RG, Mayr JA, Rötig A, Lebre AS, Klopstock T, Dworschak A, Pulido N, Saeed MA, Saleh-Gohari N, Holzerova E, Chinnery PF, Taylor RW, Prokisch H. Haghighi A, et al. Orphanet J Rare Dis. 2014 Aug 20;9:119. doi: 10.1186/s13023-014-0119-3. Orphanet J Rare Dis. 2014. PMID: 25208612 Free PMC article. Review.
Mitochondrial dysfunction in myofibrillar myopathy.
Vincent AE, Grady JP, Rocha MC, Alston CL, Rygiel KA, Barresi R, Taylor RW, Turnbull DM. Vincent AE, et al. Neuromuscul Disord. 2016 Oct;26(10):691-701. doi: 10.1016/j.nmd.2016.08.004. Epub 2016 Aug 10. Neuromuscul Disord. 2016. PMID: 27618136 Free PMC article.
58 results