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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2009 2
2010 4
2011 2
2012 2
2014 4
2015 4
2019 1
2023 2
2024 0

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17 results

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Page 1
Mitochondrial DNA mutations and human disease.
Tuppen HA, Blakely EL, Turnbull DM, Taylor RW. Tuppen HA, et al. Biochim Biophys Acta. 2010 Feb;1797(2):113-28. doi: 10.1016/j.bbabio.2009.09.005. Epub 2009 Sep 15. Biochim Biophys Acta. 2010. PMID: 19761752 Free article. Review.
Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level.
Lehmann D, Tuppen HAL, Campbell GE, Alston CL, Lawless C, Rosa HS, Rocha MC, Reeve AK, Nicholls TJ, Deschauer M, Zierz S, Taylor RW, Turnbull DM, Vincent AE. Lehmann D, et al. Among authors: tuppen hal. Nucleic Acids Res. 2019 Aug 22;47(14):7430-7443. doi: 10.1093/nar/gkz472. Nucleic Acids Res. 2019. PMID: 31147703 Free PMC article.
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
Horvath R, Kemp JP, Tuppen HA, Hudson G, Oldfors A, Marie SK, Moslemi AR, Servidei S, Holme E, Shanske S, Kollberg G, Jayakar P, Pyle A, Marks HM, Holinski-Feder E, Scavina M, Walter MC, Coku J, Günther-Scholz A, Smith PM, McFarland R, Chrzanowska-Lightowlers ZM, Lightowlers RN, Hirano M, Lochmüller H, Taylor RW, Chinnery PF, Tulinius M, DiMauro S. Horvath R, et al. Among authors: tuppen ha. Brain. 2009 Nov;132(Pt 11):3165-74. doi: 10.1093/brain/awp221. Epub 2009 Aug 31. Brain. 2009. PMID: 19720722 Free PMC article.
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.
Kemp JP, Smith PM, Pyle A, Neeve VC, Tuppen HA, Schara U, Talim B, Topaloglu H, Holinski-Feder E, Abicht A, Czermin B, Lochmüller H, McFarland R, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW, Horvath R. Kemp JP, et al. Among authors: tuppen ha. Brain. 2011 Jan;134(Pt 1):183-95. doi: 10.1093/brain/awq320. Epub 2010 Dec 17. Brain. 2011. PMID: 21169334 Free PMC article.
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.
Tuppen HA, Hogan VE, He L, Blakely EL, Worgan L, Al-Dosary M, Saretzki G, Alston CL, Morris AA, Clarke M, Jones S, Devlin AM, Mansour S, Chrzanowska-Lightowlers ZM, Thorburn DR, McFarland R, Taylor RW. Tuppen HA, et al. Brain. 2010 Oct;133(10):2952-63. doi: 10.1093/brain/awq232. Epub 2010 Sep 6. Brain. 2010. PMID: 20819849 Free PMC article.
17 results