Kirby DM - Search Results

1

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.

Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM, Kirk EP, Boneh A, Taylor RW, Dahl HH, Ryan MT, Thorburn DR. Kirby DM, et al. J Clin Invest. 2004 Sep;114(6):837-45. doi: 10.1172/JCI20683. J Clin Invest. 2004. PMID: 15372108 Free PMC article.

2

Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.

Kirby DM, Boneh A, Chow CW, Ohtake A, Ryan MT, Thyagarajan D, Thorburn DR. Kirby DM, et al. Ann Neurol. 2003 Oct;54(4):473-8. doi: 10.1002/ana.10687. Ann Neurol. 2003. PMID: 14520659

3

Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.

Thorburn DR, Sugiana C, Salemi R, Kirby DM, Worgan L, Ohtake A, Ryan MT. Thorburn DR, et al. Among authors: kirby dm. Biochim Biophys Acta. 2004 Dec 6;1659(2-3):121-8. doi: 10.1016/j.bbabio.2004.08.006. Biochim Biophys Acta. 2004. PMID: 15576043 Free article. Review.

4

Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders.

Kirby DM, Thorburn DR. Kirby DM, et al. Twin Res Hum Genet. 2008 Aug;11(4):395-411. doi: 10.1375/twin.11.4.395. Twin Res Hum Genet. 2008. PMID: 18637740 Review.

5

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.

Sugiana C, Pagliarini DJ, McKenzie M, Kirby DM, Salemi R, Abu-Amero KK, Dahl HH, Hutchison WM, Vascotto KA, Smith SM, Newbold RF, Christodoulou J, Calvo S, Mootha VK, Ryan MT, Thorburn DR. Sugiana C, et al. Among authors: kirby dm. Am J Hum Genet. 2008 Oct;83(4):468-78. doi: 10.1016/j.ajhg.2008.09.009. Am J Hum Genet. 2008. PMID: 18940309 Free PMC article.

6

Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease.

Dunning CJ, McKenzie M, Sugiana C, Lazarou M, Silke J, Connelly A, Fletcher JM, Kirby DM, Thorburn DR, Ryan MT. Dunning CJ, et al. Among authors: kirby dm. EMBO J. 2007 Jul 11;26(13):3227-37. doi: 10.1038/sj.emboj.7601748. Epub 2007 Jun 7. EMBO J. 2007. PMID: 17557076 Free PMC article.

7

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.

McFarland R, Kirby DM, Fowler KJ, Ohtake A, Ryan MT, Amor DJ, Fletcher JM, Dixon JW, Collins FA, Turnbull DM, Taylor RW, Thorburn DR. McFarland R, et al. Among authors: kirby dm. Ann Neurol. 2004 Jan;55(1):58-64. doi: 10.1002/ana.10787. Ann Neurol. 2004. PMID: 14705112

8

Clinical and molecular features of encephalomyopathy due to the A3302G mutation in the mitochondrial tRNA(Leu(UUR)) gene.

Hutchison WM, Thyagarajan D, Poulton J, Marchington DR, Kirby DM, Manji SS, Dahl HH. Hutchison WM, et al. Among authors: kirby dm. Arch Neurol. 2005 Dec;62(12):1920-3. doi: 10.1001/archneur.62.12.1920. Arch Neurol. 2005. PMID: 16344351

9

Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseases.

Hui J, Kirby DM, Thorburn DR, Boneh A. Hui J, et al. Among authors: kirby dm. Dev Med Child Neurol. 2006 Feb;48(2):132-6. doi: 10.1017/S0012162206000284. Dev Med Child Neurol. 2006. PMID: 16417669 Free article.

10

Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses.

Gibson K, Halliday JL, Kirby DM, Yaplito-Lee J, Thorburn DR, Boneh A. Gibson K, et al. Among authors: kirby dm. Pediatrics. 2008 Nov;122(5):1003-8. doi: 10.1542/peds.2007-3502. Pediatrics. 2008. PMID: 18977979

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