Similar articles for PMID: 9832034

Year	Number of Results
1988	1
1989	3
1990	1
1991	2
1994	1
1995	5
1996	1
1997	3
1998	3
1999	6
2000	7
2001	3
2002	1
2003	4
2004	5
2005	6
2006	5
2007	3
2008	3
2009	5
2010	3
2011	5
2012	5
2013	5
2014	6
2015	3
2016	3
2017	3
2018	2
2019	2
2020	1
2021	4
2022	1
2023	1
2024	0

1

A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.

Jaksch M, Hofmann S, Kleinle S, Liechti-Gallati S, Pongratz DE, Müller-Höcker J, Jedele KB, Meitinger T, Gerbitz KD. Jaksch M, et al. J Med Genet. 1998 Nov;35(11):895-900. doi: 10.1136/jmg.35.11.895. J Med Genet. 1998. PMID: 9832034 Free PMC article.

2

No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency.

Parfait B, Percheron A, Chretien D, Rustin P, Munnich A, Rötig A. Parfait B, et al. Hum Genet. 1997 Dec;101(2):247-50. doi: 10.1007/s004390050625. Hum Genet. 1997. PMID: 9402980

3

Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms.

Rahman S, Lake BD, Taanman JW, Hanna MG, Cooper JM, Schapira AH, Leonard JV. Rahman S, et al. Brain. 2000 Mar;123 Pt 3:591-600. doi: 10.1093/brain/123.3.591. Brain. 2000. PMID: 10686181

4

Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene.

Jaksch M, Klopstock T, Kurlemann G, Dörner M, Hofmann S, Kleinle S, Hegemann S, Weissert M, Müller-Höcker J, Pongratz D, Gerbitz KD. Jaksch M, et al. Ann Neurol. 1998 Oct;44(4):635-40. doi: 10.1002/ana.410440409. Ann Neurol. 1998. PMID: 9778262

5

High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency.

Vondrackova A, Vesela K, Hansikova H, Docekalova DZ, Rozsypalova E, Zeman J, Tesarova M. Vondrackova A, et al. J Hum Genet. 2012 Jul;57(7):442-8. doi: 10.1038/jhg.2012.49. Epub 2012 May 17. J Hum Genet. 2012. PMID: 22592081

6

Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.

Uusimaa J, Jungbluth H, Fratter C, Crisponi G, Feng L, Zeviani M, Hughes I, Treacy EP, Birks J, Brown GK, Sewry CA, McDermott M, Muntoni F, Poulton J. Uusimaa J, et al. J Med Genet. 2011 Oct;48(10):660-668. doi: 10.1136/jmg.2011.089995. J Med Genet. 2011. PMID: 21931168 Free PMC article.

7

A novel mutation in the mitochondrial tRNA Asn gene associated with a lethal disease.

Coulbault L, Herlicoviez D, Chapon F, Read MH, Penniello MJ, Reynier P, Fayet G, Lombès A, Jauzac P, Allouche S. Coulbault L, et al. Biochem Biophys Res Commun. 2005 Apr 15;329(3):1152-4. doi: 10.1016/j.bbrc.2005.02.083. Biochem Biophys Res Commun. 2005. PMID: 15752774

8

Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.

Hanna MG, Nelson IP, Rahman S, Lane RJ, Land J, Heales S, Cooper MJ, Schapira AH, Morgan-Hughes JA, Wood NW. Hanna MG, et al. Am J Hum Genet. 1998 Jul;63(1):29-36. doi: 10.1086/301910. Am J Hum Genet. 1998. PMID: 9634511 Free PMC article.

9

A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy.

Rahman S, Taanman JW, Cooper JM, Nelson I, Hargreaves I, Meunier B, Hanna MG, García JJ, Capaldi RA, Lake BD, Leonard JV, Schapira AH. Rahman S, et al. Am J Hum Genet. 1999 Oct;65(4):1030-9. doi: 10.1086/302590. Am J Hum Genet. 1999. PMID: 10486321 Free PMC article.

10

Cytochrome c oxidase deficiency.

Shoubridge EA. Shoubridge EA. Am J Med Genet. 2001 Spring;106(1):46-52. doi: 10.1002/ajmg.1378. Am J Med Genet. 2001. PMID: 11579424 Review.

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