Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 135

1.

MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I.

Lamperti C, Diodato D, Lamantea E, Carrara F, Ghezzi D, Mereghetti P, Rizzi R, Zeviani M.

Neuromuscul Disord. 2012 Nov;22(11):990-4. doi: 10.1016/j.nmd.2012.06.003. Epub 2012 Jul 23.

PMID:
22832341
2.

Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.

Melone MA, Tessa A, Petrini S, Lus G, Sampaolo S, di Fede G, Santorelli FM, Cotrufo R.

Arch Neurol. 2004 Feb;61(2):269-72.

PMID:
14967777
3.

MERRF/MELAS overlap syndrome due to the m.3291T>C mutation.

Liu K, Zhao H, Ji K, Yan C.

Metab Brain Dis. 2014 Mar;29(1):139-44. doi: 10.1007/s11011-013-9464-5. Epub 2013 Dec 12.

PMID:
24338029
4.

Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation.

Sakuta R, Honzawa S, Murakami N, Goto Y, Nagai T.

Pediatr Neurol. 2002 Nov;27(5):397-400.

PMID:
12504210
5.

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.

Am J Hum Genet. 1998 Jul;63(1):29-36.

6.

Isolated cytochrome c oxidase deficiency as a cause of MELAS.

Rossmanith W, Freilinger M, Roka J, Raffelsberger T, Moser-Thier K, Prayer D, Bernert G, Bittner RE.

J Med Genet. 2008 Feb;45(2):117-21. doi: 10.1136/jmg.2007.052076.

PMID:
18245391
7.

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.

Mitochondrion. 2014 Jul;17:101-5. doi: 10.1016/j.mito.2014.06.003. Epub 2014 Jun 20.

PMID:
24956508
8.

Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243.

Petruzzella V, Moraes CT, Sano MC, Bonilla E, DiMauro S, Schon EA.

Hum Mol Genet. 1994 Mar;3(3):449-54.

PMID:
7912129
9.

[Clinical, pathological and molecular biological characteristics of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episode in children].

Liu XL, Bao XH, Ma YN, Chang XZ, Qin J, Wu XR.

Zhonghua Er Ke Za Zhi. 2013 Feb;51(2):130-5. Chinese.

PMID:
23527980
10.

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, GarcĂ­a JJ, Capaldi RA, Lake BD, Leonard JV, Schapira AH.

Am J Hum Genet. 1999 Oct;65(4):1030-9.

11.
12.

A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene.

Manfredi G, Schon EA, Moraes CT, Bonilla E, Berry GT, Sladky JT, DiMauro S.

Neuromuscul Disord. 1995 Sep;5(5):391-8.

PMID:
7496173
13.

A novel mitochondrial DNA mutation in COX1 leads to strokes, seizures, and lactic acidosis.

Tam EW, Feigenbaum A, Addis JB, Blaser S, Mackay N, Al-Dosary M, Taylor RW, Ackerley C, Cameron JM, Robinson BH.

Neuropediatrics. 2008 Dec;39(6):328-34. doi: 10.1055/s-0029-1202287. Epub 2009 Jun 30.

PMID:
19568996
14.

Single-fiber PCR in MELAS(3243) patients: correlations between intratissue distribution and phenotypic expression of the mtDNA(A3243G) genotype.

Silvestri G, Rana M, Odoardi F, Modoni A, Paris E, Papacci M, Tonali P, Servidei S.

Am J Med Genet. 2000 Sep 18;94(3):201-6.

PMID:
10995506
15.

Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit I.

Kollberg G, Moslemi AR, Lindberg C, Holme E, Oldfors A.

J Neuropathol Exp Neurol. 2005 Feb;64(2):123-8.

PMID:
15751226
16.
17.

The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS.

Pulkes T, Eunson L, Patterson V, Siddiqui A, Wood NW, Nelson IP, Morgan-Hughes JA, Hanna MG.

Ann Neurol. 1999 Dec;46(6):916-9. Erratum in: Ann Neurol 2000 Jun;47(6):841.

PMID:
10589546
18.

Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms.

Rahman S, Lake BD, Taanman JW, Hanna MG, Cooper JM, Schapira AH, Leonard JV.

Brain. 2000 Mar;123 Pt 3:591-600.

PMID:
10686181
19.

Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.

Naini AB, Lu J, Kaufmann P, Bernstein RA, Mancuso M, Bonilla E, Hirano M, DiMauro S.

Arch Neurol. 2005 Mar;62(3):473-6.

PMID:
15767514
20.

The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome.

Fabrizi GM, Cardaioli E, Grieco GS, Cavallaro T, Malandrini A, Manneschi L, Dotti MT, Federico A, Guazzi G.

J Neurol Neurosurg Psychiatry. 1996 Jul;61(1):47-51.

Supplemental Content

Support Center