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The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.
Ng YS, Alston CL, Diodato D, Morris AA, Ulrick N, Kmoch S, Houštěk J, Martinelli D, Haghighi A, Atiq M, Gamero MA, Garcia-Martinez E, Kratochvílová H, Santra S, Brown RM, Brown GK, Ragge N, Monavari A, Pysden K, Ravn K, Casey JP, Khan A, Chakrapani A, Vassallo G, Simons C, McKeever K, O'Sullivan S, Childs AM, Østergaard E, Vanderver A, Goldstein A, Vogt J, Taylor RW, McFarland R. Ng YS, et al. Among authors: brown rm, brown gk. J Med Genet. 2016 Nov;53(11):768-775. doi: 10.1136/jmedgenet-2016-103910. Epub 2016 Jul 13. J Med Genet. 2016. PMID: 27412952 Free PMC article.
A national perspective on prenatal testing for mitochondrial disease.
Nesbitt V, Alston CL, Blakely EL, Fratter C, Feeney CL, Poulton J, Brown GK, Turnbull DM, Taylor RW, McFarland R. Nesbitt V, et al. Among authors: brown gk. Eur J Hum Genet. 2014 Nov;22(11):1255-9. doi: 10.1038/ejhg.2014.35. Epub 2014 Mar 19. Eur J Hum Genet. 2014. PMID: 24642831 Free PMC article.
Pyruvate dehydrogenase E3 binding protein deficiency.
Brown RM, Head RA, Brown GK. Brown RM, et al. Among authors: brown gk. Hum Genet. 2002 Feb;110(2):187-91. doi: 10.1007/s00439-001-0665-3. Epub 2002 Jan 22. Hum Genet. 2002. PMID: 11935326
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
Oláhová M, Hardy SA, Hall J, Yarham JW, Haack TB, Wilson WC, Alston CL, He L, Aznauryan E, Brown RM, Brown GK, Morris AA, Mundy H, Broomfield A, Barbosa IA, Simpson MA, Deshpande C, Moeslinger D, Koch J, Stettner GM, Bonnen PE, Prokisch H, Lightowlers RN, McFarland R, Chrzanowska-Lightowlers ZM, Taylor RW. Oláhová M, et al. Among authors: brown rm, brown gk. Brain. 2015 Dec;138(Pt 12):3503-19. doi: 10.1093/brain/awv291. Epub 2015 Oct 27. Brain. 2015. PMID: 26510951 Free PMC article.
Pyruvate dehydrogenase deficiency.
Brown GK, Otero LJ, LeGris M, Brown RM. Brown GK, et al. Among authors: brown rm. J Med Genet. 1994 Nov;31(11):875-9. doi: 10.1136/jmg.31.11.875. J Med Genet. 1994. PMID: 7853374 Free PMC article. Review. No abstract available.
285 results