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290 results
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A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis.
McFarland R, Taylor RW, Chinnery PF, Howell N, Turnbull DM. McFarland R, et al. Among authors: howell n. Neuromuscul Disord. 2004 Feb;14(2):162-6. doi: 10.1016/j.nmd.2003.10.011. Neuromuscul Disord. 2004. PMID: 14733964
Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?
Chinnery PF, Andrews RM, Turnbull DM, Howell NN. Chinnery PF, et al. Among authors: howell nn. Am J Med Genet. 2001 Jan 22;98(3):235-43. doi: 10.1002/1096-8628(20010122)98:3<235::aid-ajmg1086>3.0.co;2-o. Am J Med Genet. 2001. PMID: 11169561
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.
Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, Achilli A, Pyle A, Elson J, Howell N, La Morgia C, Valentino ML, Huoponen K, Savontaus ML, Nikoskelainen E, Sadun AA, Salomao SR, Belfort R Jr, Griffiths P, Yu-Wai-Man P, de Coo RF, Horvath R, Zeviani M, Smeets HJ, Torroni A, Chinnery PF. Hudson G, et al. Among authors: howell n. Am J Hum Genet. 2007 Aug;81(2):228-33. doi: 10.1086/519394. Epub 2007 Jun 4. Am J Hum Genet. 2007. PMID: 17668373 Free PMC article.
Does the mitochondrial genome play a role in the etiology of Alzheimer's disease?
Elson JL, Herrnstadt C, Preston G, Thal L, Morris CM, Edwardson JA, Beal MF, Turnbull DM, Howell N. Elson JL, et al. Among authors: howell n. Hum Genet. 2006 Apr;119(3):241-54. doi: 10.1007/s00439-005-0123-8. Epub 2006 Jan 12. Hum Genet. 2006. PMID: 16408223
Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough.
McFarland R, Elson JL, Taylor RW, Howell N, Turnbull DM. McFarland R, et al. Among authors: howell n. Trends Genet. 2004 Dec;20(12):591-6. doi: 10.1016/j.tig.2004.09.014. Trends Genet. 2004. PMID: 15522452 Review.
Changes in the human mitochondrial genome after treatment of malignant disease.
Wardell TM, Ferguson E, Chinnery PF, Borthwick GM, Taylor RW, Jackson G, Craft A, Lightowlers RN, Howell N, Turnbull DM. Wardell TM, et al. Among authors: howell n. Mutat Res. 2003 Apr 9;525(1-2):19-27. doi: 10.1016/s0027-5107(02)00313-5. Mutat Res. 2003. PMID: 12650902
Genotypes from patients indicate no paternal mitochondrial DNA contribution.
Taylor RW, McDonnell MT, Blakely EL, Chinnery PF, Taylor GA, Howell N, Zeviani M, Briem E, Carrara F, Turnbull DM. Taylor RW, et al. Among authors: howell n. Ann Neurol. 2003 Oct;54(4):521-4. doi: 10.1002/ana.10673. Ann Neurol. 2003. PMID: 14520666
Comparative genomics and the evolution of human mitochondrial DNA: assessing the effects of selection.
Elson JL, Turnbull DM, Howell N. Elson JL, et al. Among authors: howell n. Am J Hum Genet. 2004 Feb;74(2):229-38. doi: 10.1086/381505. Epub 2004 Jan 7. Am J Hum Genet. 2004. PMID: 14712420 Free PMC article.
Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease.
Davis RE, Miller S, Herrnstadt C, Ghosh SS, Fahy E, Shinobu LA, Galasko D, Thal LJ, Beal MF, Howell N, Parker WD Jr. Davis RE, et al. Among authors: howell n. Proc Natl Acad Sci U S A. 1997 Apr 29;94(9):4526-31. doi: 10.1073/pnas.94.9.4526. Proc Natl Acad Sci U S A. 1997. PMID: 9114023 Free PMC article. Retracted.
Mammalian mitochondrial genetics: heredity, heteroplasmy and disease.
Lightowlers RN, Chinnery PF, Turnbull DM, Howell N. Lightowlers RN, et al. Among authors: howell n. Trends Genet. 1997 Nov;13(11):450-5. doi: 10.1016/s0168-9525(97)01266-3. Trends Genet. 1997. PMID: 9385842 Review.
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