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Diverse powerhouses.
Thorburn DR. Thorburn DR. Nat Genet. 2004 Jan;36(1):13-4. doi: 10.1038/ng0104-13. Nat Genet. 2004. PMID: 14702034 No abstract available.
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Calvo SE, Tucker EJ, Compton AG, Kirby DM, Crawford G, Burtt NP, Rivas M, Guiducci C, Bruno DL, Goldberger OA, Redman MC, Wiltshire E, Wilson CJ, Altshuler D, Gabriel SB, Daly MJ, Thorburn DR, Mootha VK. Calvo SE, et al. Among authors: thorburn dr. Nat Genet. 2010 Oct;42(10):851-8. doi: 10.1038/ng.659. Epub 2010 Sep 5. Nat Genet. 2010. PMID: 20818383 Free PMC article.
Mitochondrial diseases: beyond the magic circle.
Dahl HH, Thorburn DR. Dahl HH, et al. Among authors: thorburn dr. Am J Med Genet. 2001 Spring;106(1):1-3. doi: 10.1002/ajmg.1427. Am J Med Genet. 2001. PMID: 11579419 No abstract available.
Mutations of the mitochondrial ND1 gene as a cause of MELAS.
Kirby DM, McFarland R, Ohtake A, Dunning C, Ryan MT, Wilson C, Ketteridge D, Turnbull DM, Thorburn DR, Taylor RW. Kirby DM, et al. Among authors: thorburn dr. J Med Genet. 2004 Oct;41(10):784-9. doi: 10.1136/jmg.2004.020537. J Med Genet. 2004. PMID: 15466014 Free PMC article. No abstract available.
222 results