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Page 1
Recent Advances in Mitochondrial Disease.
Craven L, Alston CL, Taylor RW, Turnbull DM. Craven L, et al. Annu Rev Genomics Hum Genet. 2017 Aug 31;18:257-275. doi: 10.1146/annurev-genom-091416-035426. Epub 2017 Apr 17. Annu Rev Genomics Hum Genet. 2017. PMID: 28415858 Free article. Review.
Endocrine disorders in mitochondrial disease.
Schaefer AM, Walker M, Turnbull DM, Taylor RW. Schaefer AM, et al. Mol Cell Endocrinol. 2013 Oct 15;379(1-2):2-11. doi: 10.1016/j.mce.2013.06.004. Epub 2013 Jun 13. Mol Cell Endocrinol. 2013. PMID: 23769710 Free PMC article. Review.
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E. Carrozzo R, et al. J Inherit Metab Dis. 2016 Mar;39(2):243-52. doi: 10.1007/s10545-015-9894-9. Epub 2015 Oct 16. J Inherit Metab Dis. 2016. PMID: 26475597
ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.
Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ, Baruffini E, Walther A, Danhauser K, Zimmermann FA, Husain RA, Schum J, Mundy H, Ferrero I, Strom TM, Meitinger T, Taylor RW, Minczuk M, Mayr JA, Prokisch H. Haack TB, et al. Am J Hum Genet. 2013 Aug 8;93(2):211-23. doi: 10.1016/j.ajhg.2013.06.006. Epub 2013 Jul 11. Am J Hum Genet. 2013. PMID: 23849775 Free PMC article.
GRSF1 regulates RNA processing in mitochondrial RNA granules.
Jourdain AA, Koppen M, Wydro M, Rodley CD, Lightowlers RN, Chrzanowska-Lightowlers ZM, Martinou JC. Jourdain AA, et al. Cell Metab. 2013 Mar 5;17(3):399-410. doi: 10.1016/j.cmet.2013.02.005. Cell Metab. 2013. PMID: 23473034 Free PMC article.
47 results