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Mitochondrial dysfunction in myofibrillar myopathy.
Vincent AE, Grady JP, Rocha MC, Alston CL, Rygiel KA, Barresi R, Taylor RW, Turnbull DM. Vincent AE, et al. Among authors: rocha mc. Neuromuscul Disord. 2016 Oct;26(10):691-701. doi: 10.1016/j.nmd.2016.08.004. Epub 2016 Aug 10. Neuromuscul Disord. 2016. PMID: 27618136 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.
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: rocha mc. 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.
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.
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. 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.
159 results