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

Year Number of Results
2000 3
2001 3
2002 1
2003 3
2004 4
2005 4
2006 1
2007 5
2008 5
2009 5
2010 9
2011 8
2012 12
2013 9
2014 10
2015 8
2016 7
2017 3
2018 5
2019 6
2020 9
2021 4
2022 5
2023 2
2024 0

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115 results

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Page 1
POLRMT mutations impair mitochondrial transcription causing neurological disease.
Oláhová M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stránecký V, Hartmannová H, Bleyer AJ, McBride KL, Bowden SA, Korandová Z, Pecinová A, Ropers HH, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Õunap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mráček T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RW. Oláhová M, et al. Among authors: blakely el. Nat Commun. 2021 Feb 18;12(1):1135. doi: 10.1038/s41467-021-21279-0. Nat Commun. 2021. PMID: 33602924 Free PMC article.
Mitochondrial tRNA mutations and disease.
Yarham JW, Elson JL, Blakely EL, McFarland R, Taylor RW. Yarham JW, et al. Among authors: blakely el. Wiley Interdiscip Rev RNA. 2010 Sep-Oct;1(2):304-24. doi: 10.1002/wrna.27. Epub 2010 Jul 21. Wiley Interdiscip Rev RNA. 2010. PMID: 21935892 Review.
Mitochondrial DNA mutations and human disease.
Tuppen HA, Blakely EL, Turnbull DM, Taylor RW. Tuppen HA, et al. Among authors: blakely el. 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.
Recent advances in understanding the molecular genetic basis of mitochondrial disease.
Thompson K, Collier JJ, Glasgow RIC, Robertson FM, Pyle A, Blakely EL, Alston CL, Oláhová M, McFarland R, Taylor RW. Thompson K, et al. Among authors: blakely el. J Inherit Metab Dis. 2020 Jan;43(1):36-50. doi: 10.1002/jimd.12104. Epub 2019 May 10. J Inherit Metab Dis. 2020. PMID: 31021000 Free PMC article. Review.
Forecasting stroke-like episodes and outcomes in mitochondrial disease.
Ng YS, Lax NZ, Blain AP, Erskine D, Baker MR, Polvikoski T, Thomas RH, Morris CM, Lai M, Whittaker RG, Gebbels A, Winder A, Hall J, Feeney C, Farrugia ME, Hirst C, Roberts M, Lawthom C, Chrysostomou A, Murphy K, Baird T, Maddison P, Duncan C, Poulton J, Nesbitt V, Hanna MG, Pitceathly RDS, Taylor RW, Blakely EL, Schaefer AM, Turnbull DM, McFarland R, Gorman GS. Ng YS, et al. Among authors: blakely el. Brain. 2022 Apr 18;145(2):542-554. doi: 10.1093/brain/awab353. Brain. 2022. PMID: 34927673 Free PMC article.
Mitochondrial DNA mutations in disease and ageing.
Cottrell DA, Blakely EL, Johnson MA, Borthwick GM, Ince PI, Turnbull DM. Cottrell DA, et al. Among authors: blakely el. Novartis Found Symp. 2001;235:234-43; discussion 243-6. doi: 10.1002/0470868694.ch19. Novartis Found Symp. 2001. PMID: 11280028 Review.
Albinism and a mitochondrial DNA deletion.
Chilibeck CM, Glamuzina EE, Ung CY, Blakely EL, Taylor RW, Vincent AL. Chilibeck CM, et al. Among authors: blakely el. Ophthalmic Genet. 2020 Jun;41(3):295-298. doi: 10.1080/13816810.2020.1750038. Epub 2020 Apr 15. Ophthalmic Genet. 2020. PMID: 32290753 No abstract available.
Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.
Rocha MC, Rosa HS, Grady JP, Blakely EL, He L, Romain N, Haller RG, Newman J, McFarland R, Ng YS, Gorman GS, Schaefer AM, Tuppen HA, Taylor RW, Turnbull DM. Rocha MC, et al. Among authors: blakely el. Ann Neurol. 2018 Jan;83(1):115-130. doi: 10.1002/ana.25127. Ann Neurol. 2018. PMID: 29283441 Free PMC article.
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.
Shintaku J, Pernice WM, Eyaid W, Gc JB, Brown ZP, Juanola-Falgarona M, Torres-Torronteras J, Sommerville EW, Hellebrekers DM, Blakely EL, Donaldson A, van de Laar I, Leu CS, Marti R, Frank J, Tanji K, Koolen DA, Rodenburg RJ, Chinnery PF, Smeets HJM, Gorman GS, Bonnen PE, Taylor RW, Hirano M. Shintaku J, et al. Among authors: blakely el. J Clin Invest. 2022 Jul 1;132(13):e145660. doi: 10.1172/JCI145660. J Clin Invest. 2022. PMID: 35617047 Free PMC article.
115 results