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Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance.
Sommerville EW, Dalla Rosa I, Rosenberg MM, Bruni F, Thompson K, Rocha M, Blakely EL, He L, Falkous G, Schaefer AM, Yu-Wai-Man P, Chinnery PF, Hedstrom L, Spinazzola A, Taylor RW, Gorman GS. Sommerville EW, et al. Among authors: rocha m. Clin Genet. 2020 Feb;97(2):276-286. doi: 10.1111/cge.13652. Epub 2019 Nov 14. Clin Genet. 2020. PMID: 31600844 Free PMC article.
Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.
Hardy SA, Blakely EL, Purvis AI, Rocha MC, Ahmed S, Falkous G, Poulton J, Rose MR, O'Mahony O, Bermingham N, Dougan CF, Ng YS, Horvath R, Turnbull DM, Gorman GS, Taylor RW. Hardy SA, et al. Among authors: rocha mc. Neurol Genet. 2016 Jun 23;2(4):e82. doi: 10.1212/NXG.0000000000000082. eCollection 2016 Aug. Neurol Genet. 2016. PMID: 27536729 Free PMC article.
The genetics and pathology of mitochondrial disease.
Alston CL, Rocha MC, Lax NZ, Turnbull DM, Taylor RW. Alston CL, et al. Among authors: rocha mc. J Pathol. 2017 Jan;241(2):236-250. doi: 10.1002/path.4809. Epub 2016 Nov 2. J Pathol. 2017. PMID: 27659608 Free PMC article. Review.
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: rocha mc. 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.
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: rocha mc. Nucleic Acids Res. 2019 Aug 22;47(14):7430-7443. doi: 10.1093/nar/gkz472. Nucleic Acids Res. 2019. PMID: 31147703 Free PMC article.
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.
Bacalhau M, Simões M, Rocha MC, Hardy SA, Vincent AE, Durães J, Macário MC, Santos MJ, Rebelo O, Lopes C, Pratas J, Mendes C, Zuzarte M, Rego AC, Girão H, Wong LC, Taylor RW, Grazina M. Bacalhau M, et al. Among authors: rocha mc. Neuromuscul Disord. 2018 Apr;28(4):350-360. doi: 10.1016/j.nmd.2017.11.006. Epub 2017 Nov 23. Neuromuscul Disord. 2018. PMID: 29398297 Free PMC article.
2,744 results