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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: schaefer am. 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.
Mitochondrial DNA deletion in "identical" twin brothers.
Blakely EL, He L, Taylor RW, Chinnery PF, Lightowlers RN, Schaefer AM, Turnbull DM. Blakely EL, et al. Among authors: schaefer am. J Med Genet. 2004 Feb;41(2):e19. doi: 10.1136/jmg.2003.011296. J Med Genet. 2004. PMID: 14757869 Free PMC article. No abstract available.
The diagnosis of mitochondrial muscle disease.
Taylor RW, Schaefer AM, Barron MJ, McFarland R, Turnbull DM. Taylor RW, et al. Among authors: schaefer am. Neuromuscul Disord. 2004 Apr;14(4):237-45. doi: 10.1016/j.nmd.2003.12.004. Neuromuscul Disord. 2004. PMID: 15019701 Review.
152 results