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

Year Number of Results
2012 1
2013 1
2014 2
2015 3
2016 3
2017 4
2018 3
2019 8
2020 4
2021 1
2022 4
2023 1
2024 0

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32 results

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Page 1
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
Erdinc D, Rodríguez-Luis A, Fassad MR, Mackenzie S, Watson CM, Valenzuela S, Xie X, Menger KE, Sergeant K, Craig K, Hopton S, Falkous G; Genomics England Research Consortium; Poulton J, Garcia-Moreno H, Giunti P, de Moura Aschoff CA, Morales Saute JA, Kirby AJ, Toro C, Wolfe L, Novacic D, Greenbaum L, Eliyahu A, Barel O, Anikster Y, McFarland R, Gorman GS, Schaefer AM, Gustafsson CM, Taylor RW, Falkenberg M, Nicholls TJ. Erdinc D, et al. Among authors: falkous g. EMBO Mol Med. 2023 May 8;15(5):e16775. doi: 10.15252/emmm.202216775. Epub 2023 Apr 4. EMBO Mol Med. 2023. PMID: 37013609 Free PMC article.
The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.
Vincent AE, Ng YS, White K, Davey T, Mannella C, Falkous G, Feeney C, Schaefer AM, McFarland R, Gorman GS, Taylor RW, Turnbull DM, Picard M. Vincent AE, et al. Among authors: falkous g. Sci Rep. 2016 Aug 10;6:30610. doi: 10.1038/srep30610. Sci Rep. 2016. PMID: 27506553 Free PMC article. Review.
Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease.
Schober FA, Tang JX, Sergeant K, Moedas MF, Zierz CM, Moore D, Smith C, Lewis D, Guha N, Hopton S, Falkous G, Lam A, Pyle A, Poulton J, Gorman GS, Taylor RW, Freyer C, Wredenberg A. Schober FA, et al. Among authors: falkous g. Hum Mol Genet. 2022 Jun 22;31(12):2049-2062. doi: 10.1093/hmg/ddac002. Hum Mol Genet. 2022. PMID: 35024855 Free PMC article.
Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network.
Vincent AE, White K, Davey T, Philips J, Ogden RT, Lawless C, Warren C, Hall MG, Ng YS, Falkous G, Holden T, Deehan D, Taylor RW, Turnbull DM, Picard M. Vincent AE, et al. Among authors: falkous g. Cell Rep. 2019 Jan 22;26(4):996-1009.e4. doi: 10.1016/j.celrep.2019.01.010. Epub 2019 Jan 15. Cell Rep. 2019. PMID: 30655224 Free PMC article.
Subcellular origin of mitochondrial DNA deletions in human skeletal muscle.
Vincent AE, Rosa HS, Pabis K, Lawless C, Chen C, Grünewald A, Rygiel KA, Rocha MC, Reeve AK, Falkous G, Perissi V, White K, Davey T, Petrof BJ, Sayer AA, Cooper C, Deehan D, Taylor RW, Turnbull DM, Picard M. Vincent AE, et al. Among authors: falkous g. Ann Neurol. 2018 Aug;84(2):289-301. doi: 10.1002/ana.25288. Epub 2018 Aug 21. Ann Neurol. 2018. PMID: 30014514 Free PMC article.
Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network.
Vincent AE, White K, Davey T, Philips J, Ogden RT, Lawless C, Warren C, Hall MG, Ng YS, Falkous G, Holden T, Deehan D, Taylor RW, Turnbull DM, Picard M. Vincent AE, et al. Among authors: falkous g. Cell Rep. 2019 Apr 2;27(1):321. doi: 10.1016/j.celrep.2019.03.051. Cell Rep. 2019. PMID: 30943412 Free PMC article. No abstract available.
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS. Sommerville EW, et al. Among authors: falkous g. JAMA Neurol. 2017 Jun 1;74(6):686-694. doi: 10.1001/jamaneurol.2016.4357. JAMA Neurol. 2017. PMID: 28395030 Free PMC article.
Correction: Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy.
AIMM Trial Group:; Abouhajar A, Alcock L, Bigirumurame T, Bradley P, Brown L, Campbell I, Del Din S, Faitg J, Falkous G, Gorman GS, Lakey R, McFarland R, Newman J, Rochester L, Ryan V, Smith H, Steel A, Stefanetti RJ, Su H, Taylor RW, Thomas NJP, Tuppen H, Vincent AE, Warren C, Watson G. AIMM Trial Group:, et al. Among authors: falkous g. Trials. 2022 Oct 5;23(1):852. doi: 10.1186/s13063-022-06814-8. Trials. 2022. PMID: 36199067 Free PMC article. No abstract available.
Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy.
AIMM Trial Group:; Abouhajar A, Alcock L, Bigirumurame T, Bradley P, Brown L, Campbell I, Del Din S, Faitg J, Falkous G, Gorman GS, Lakey R, McFarland R, Newman J, Rochester L, Ryan V, Smith H, Steel A, Stefanetti RJ, Su H, Taylor RW, Thomas NJP, Tuppen H, Vincent AE, Warren C, Watson G. AIMM Trial Group:, et al. Among authors: falkous g. Trials. 2022 Sep 20;23(1):789. doi: 10.1186/s13063-022-06544-x. Trials. 2022. PMID: 36127727 Free PMC article.
32 results