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Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.
Pitceathly RD, Smith C, Fratter C, Alston CL, He L, Craig K, Blakely EL, Evans JC, Taylor J, Shabbir Z, Deschauer M, Pohl U, Roberts ME, Jackson MC, Halfpenny CA, Turnpenny PD, Lunt PW, Hanna MG, Schaefer AM, McFarland R, Horvath R, Chinnery PF, Turnbull DM, Poulton J, Taylor RW, Gorman GS. Pitceathly RD, et al. Among authors: chinnery pf. Brain. 2012 Nov;135(Pt 11):3392-403. doi: 10.1093/brain/aws231. Epub 2012 Oct 29. Brain. 2012. PMID: 23107649 Free PMC article.
Treatment of mitochondrial disease.
Taylor RW, Chinnery PF, Clark KM, Lightowlers RN, Turnbull DM. Taylor RW, et al. Among authors: chinnery pf. J Bioenerg Biomembr. 1997 Apr;29(2):195-205. doi: 10.1023/a:1022646215643. J Bioenerg Biomembr. 1997. PMID: 9239544 Review.
Recurrent strokes in a 34-year-old man.
Chinnery PF, Turnbull DM, Walls TJ, Reading PJ. Chinnery PF, et al. Lancet. 1997 Aug 23;350(9077):560. doi: 10.1016/s0140-6736(97)05005-8. Lancet. 1997. PMID: 9284779 No abstract available.
674 results