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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: rosa hs. Nucleic Acids Res. 2019 Aug 22;47(14):7430-7443. doi: 10.1093/nar/gkz472. Nucleic Acids Res. 2019. PMID: 31147703 Free PMC article.
Dysferlin mutations and mitochondrial dysfunction.
Vincent AE, Rosa HS, Alston CL, Grady JP, Rygiel KA, Rocha MC, Barresi R, Taylor RW, Turnbull DM. Vincent AE, et al. Among authors: rosa hs. Neuromuscul Disord. 2016 Nov;26(11):782-788. doi: 10.1016/j.nmd.2016.08.008. Epub 2016 Aug 29. Neuromuscul Disord. 2016. PMID: 27666772 Free PMC article.
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: rosa hs. Ann Neurol. 2018 Jan;83(1):115-130. doi: 10.1002/ana.25127. Ann Neurol. 2018. PMID: 29283441 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: rosa hs. 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.
Effects of thyroid hormone on mitochondria and metabolism of human preimplantation embryos.
Noli L, Khorsandi SE, Pyle A, Giritharan G, Fogarty N, Capalbo A, Devito L, Jovanovic VM, Khurana P, Rosa H, Kolundzic N, Cvoro A, Niakan KK, Malik A, Foulk R, Heaton N, Ardawi MS, Chinnery PF, Ogilvie C, Khalaf Y, Ilic D. Noli L, et al. Stem Cells. 2020 Mar;38(3):369-381. doi: 10.1002/stem.3129. Epub 2019 Dec 26. Stem Cells. 2020. PMID: 31778245 Free PMC article.
23 results