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Page 1
POLG mutations and age at menopause.
Duncan AJ, Knight JA, Costello H, Conway GS, Rahman S. Duncan AJ, et al. Hum Reprod. 2012 Jul;27(7):2243-4. doi: 10.1093/humrep/des130. Epub 2012 May 2. Hum Reprod. 2012. PMID: 22552686 No abstract available.
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.
Fassone E, Duncan AJ, Taanman JW, Pagnamenta AT, Sadowski MI, Holand T, Qasim W, Rutland P, Calvo SE, Mootha VK, Bitner-Glindzicz M, Rahman S. Fassone E, et al. Among authors: duncan aj. Hum Mol Genet. 2010 Dec 15;19(24):4837-47. doi: 10.1093/hmg/ddq414. Epub 2010 Sep 21. Hum Mol Genet. 2010. PMID: 20858599 Free PMC article.
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.
Fassone E, Duncan AJ, Taanman JW, Pagnamenta AT, Sadowski MI, Holand T, Qasim W, Rutland P, Calvo SE, Mootha VK, Bitner-Glindzicz M, Rahman S. Fassone E, et al. Among authors: duncan aj. Hum Mol Genet. 2015 Jul 15;24(14):4183. doi: 10.1093/hmg/ddv164. Epub 2015 May 28. Hum Mol Genet. 2015. PMID: 26022995 Free PMC article. No abstract available.
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.
Duncan AJ, Bitner-Glindzicz M, Meunier B, Costello H, Hargreaves IP, López LC, Hirano M, Quinzii CM, Sadowski MI, Hardy J, Singleton A, Clayton PT, Rahman S. Duncan AJ, et al. Am J Hum Genet. 2009 May;84(5):558-66. doi: 10.1016/j.ajhg.2009.03.018. Epub 2009 Apr 16. Am J Hum Genet. 2009. PMID: 19375058 Free PMC article.
146 results