Similar articles for PMID: 24781756

Year	Number of Results
1991	1
1992	1
1993	4
1994	1
1995	3
1996	1
1997	4
1998	3
1999	4
2000	8
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2003	2
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2005	3
2007	2
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2009	3
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2011	2
2012	5
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2014	5
2015	10
2016	3
2017	6
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2019	2
2020	1
2021	3
2024	0

1

Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.

Abdulhag UN, Soiferman D, Schueler-Furman O, Miller C, Shaag A, Elpeleg O, Edvardson S, Saada A. Abdulhag UN, et al. Eur J Hum Genet. 2015 Feb;23(2):159-64. doi: 10.1038/ejhg.2014.85. Epub 2014 Apr 30. Eur J Hum Genet. 2015. PMID: 24781756 Free PMC article.

2

Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene.

Debray FG, Seneca S, Gonce M, Vancampenhaut K, Bianchi E, Boemer F, Weekers L, Smet J, Van Coster R. Debray FG, et al. Mitochondrion. 2014 Jul;17:101-5. doi: 10.1016/j.mito.2014.06.003. Epub 2014 Jun 20. Mitochondrion. 2014. PMID: 24956508

3

An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy.

Clark KM, Taylor RW, Johnson MA, Chinnery PF, Chrzanowska-Lightowlers ZM, Andrews RM, Nelson IP, Wood NW, Lamont PJ, Hanna MG, Lightowlers RN, Turnbull DM. Clark KM, et al. Am J Hum Genet. 1999 May;64(5):1330-9. doi: 10.1086/302361. Am J Hum Genet. 1999. PMID: 10205264 Free PMC article.

4

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

Oláhová M, Hardy SA, Hall J, Yarham JW, Haack TB, Wilson WC, Alston CL, He L, Aznauryan E, Brown RM, Brown GK, Morris AA, Mundy H, Broomfield A, Barbosa IA, Simpson MA, Deshpande C, Moeslinger D, Koch J, Stettner GM, Bonnen PE, Prokisch H, Lightowlers RN, McFarland R, Chrzanowska-Lightowlers ZM, Taylor RW. Oláhová M, et al. Brain. 2015 Dec;138(Pt 12):3503-19. doi: 10.1093/brain/awv291. Epub 2015 Oct 27. Brain. 2015. PMID: 26510951 Free PMC article.

5

Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes.

Bidooki SK, Johnson MA, Chrzanowska-Lightowlers Z, Bindoff LA, Lightowlers RN. Bidooki SK, et al. Am J Hum Genet. 1997 Jun;60(6):1430-8. doi: 10.1086/515460. Am J Hum Genet. 1997. PMID: 9199564 Free PMC article.

6

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

7

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.

Massa V, Fernandez-Vizarra E, Alshahwan S, Bakhsh E, Goffrini P, Ferrero I, Mereghetti P, D'Adamo P, Gasparini P, Zeviani M. Massa V, et al. Am J Hum Genet. 2008 Jun;82(6):1281-9. doi: 10.1016/j.ajhg.2008.05.002. Epub 2008 May 22. Am J Hum Genet. 2008. PMID: 18499082 Free PMC article.

8

Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy.

Nijtmans LG, Barth PG, Lincke CR, Van Galen MJ, Zwart R, Klement P, Bolhuis PA, Ruitenbeek W, Wanders RJ, Van den Bogert C. Nijtmans LG, et al. Biochim Biophys Acta. 1995 Apr 24;1270(2-3):193-201. doi: 10.1016/0925-4439(95)00044-5. Biochim Biophys Acta. 1995. PMID: 7727543 Free article.

9

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.

Thompson K, Mai N, Oláhová M, Scialó F, Formosa LE, Stroud DA, Garrett M, Lax NZ, Robertson FM, Jou C, Nascimento A, Ortez C, Jimenez-Mallebrera C, Hardy SA, He L, Brown GK, Marttinen P, McFarland R, Sanz A, Battersby BJ, Bonnen PE, Ryan MT, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW. Thompson K, et al. EMBO Mol Med. 2018 Nov;10(11):e9060. doi: 10.15252/emmm.201809060. EMBO Mol Med. 2018. PMID: 30201738 Free PMC article.

10

A novel heteroplasmic point mutation in the mitochondrial tRNA(Lys) gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspring.

Houshmand M, Lindberg C, Moslemi AR, Oldfors A, Holme E. Houshmand M, et al. Hum Mutat. 1999;13(3):203-9. doi: 10.1002/(SICI)1098-1004(1999)13:3<203::AID-HUMU4>3.0.CO;2-3. Hum Mutat. 1999. PMID: 10090475

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