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Items: 1 to 20 of 142

1.

Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3.

Leshinsky-Silver E, Lev D, Malinger G, Shapira D, Cohen S, Lerman-Sagie T, Saada A.

Mol Genet Metab. 2010 May;100(1):65-70. doi: 10.1016/j.ymgme.2010.02.002. Epub 2010 Feb 10.

PMID:
20202874
2.

Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene.

Leshinsky-Silver E, Lev D, Tzofi-Berman Z, Cohen S, Saada A, Yanoov-Sharav M, Gilad E, Lerman-Sagie T.

Biochem Biophys Res Commun. 2005 Aug 26;334(2):582-7.

PMID:
16023078
3.

Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.

Blok MJ, Spruijt L, de Coo IF, Schoonderwoerd K, Hendrickx A, Smeets HJ.

J Med Genet. 2007 Apr;44(4):e74.

4.

A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.

Sarzi E, Brown MD, Lebon S, Chretien D, Munnich A, Rotig A, Procaccio V.

Am J Med Genet A. 2007 Jan 1;143A(1):33-41.

PMID:
17152068
5.

A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.

Crimi M, Papadimitriou A, Galbiati S, Palamidou P, Fortunato F, Bordoni A, Papandreou U, Papadimitriou D, Hadjigeorgiou GM, Drogari E, Bresolin N, Comi GP.

Pediatr Res. 2004 May;55(5):842-6. Epub 2004 Feb 5.

PMID:
14764913
6.

Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.

Martín MA, Blázquez A, Gutierrez-Solana LG, Fernández-Moreira D, Briones P, Andreu AL, Garesse R, Campos Y, Arenas J.

Arch Neurol. 2005 Apr;62(4):659-61.

PMID:
15824269
7.

Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.

Miller DK, Menezes MJ, Simons C, Riley LG, Cooper ST, Grimmond SM, Thorburn DR, Christodoulou J, Taft RJ.

PLoS One. 2014 Aug 12;9(8):e104879. doi: 10.1371/journal.pone.0104879. eCollection 2014.

8.

Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence.

Leshinsky-Silver E, Shuvalov R, Inbar S, Cohen S, Lev D, Lerman-Sagie T.

J Child Neurol. 2011 Apr;26(4):476-81. doi: 10.1177/0883073810384615. Epub 2010 Dec 31.

PMID:
21196529
9.

Leigh disease associated with a novel mitochondrial DNA ND5 mutation.

Taylor RW, Morris AA, Hutchinson M, Turnbull DM.

Eur J Hum Genet. 2002 Feb;10(2):141-4.

10.

Novel mitochondrial mutation in the ND4 gene associated with Leigh syndrome.

Vanniarajan A, Rajshekher GP, Joshi MB, Reddy AG, Singh L, Thangaraj K.

Acta Neurol Scand. 2006 Nov;114(5):350-3.

PMID:
17022785
11.

Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies.

Lim BC, Park JD, Hwang H, Kim KJ, Hwang YS, Chae JH, Cheon JE, Kim IO, Lee R, Moon HK.

J Child Neurol. 2009 Jul;24(7):828-32. doi: 10.1177/0883073808331085.

PMID:
19617458
12.

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.

Hoefs SJ, van Spronsen FJ, Lenssen EW, Nijtmans LG, Rodenburg RJ, Smeitink JA, van den Heuvel LP.

Eur J Hum Genet. 2011 Mar;19(3):270-4. doi: 10.1038/ejhg.2010.204. Epub 2010 Dec 8.

13.

Mitochondrial respiratory chain enzyme assay and DNA analysis in peripheral blood leukocytes for the etiological study of Chinese children with Leigh syndrome due to complex I deficiency.

Ma YY, Wu TF, Liu YP, Wang Q, Li XY, Zhang Y, Song JQ, Wang YJ, Yang YL.

Mitochondrial DNA. 2013 Feb;24(1):67-73. doi: 10.3109/19401736.2012.717932. Epub 2012 Sep 5.

PMID:
22947169
14.

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

Chol M, Lebon S, Bénit P, Chretien D, de Lonlay P, Goldenberg A, Odent S, Hertz-Pannier L, Vincent-Delorme C, Cormier-Daire V, Rustin P, Rötig A, Munnich A.

J Med Genet. 2003 Mar;40(3):188-91.

15.

The mitochondrial DNA 10197 G > A mutation causes MELAS/Leigh overlap syndrome presenting with acute auditory agnosia.

Leng Y, Liu Y, Fang X, Li Y, Yu L, Yuan Y, Wang Z.

Mitochondrial DNA. 2015 Apr;26(2):208-12. doi: 10.3109/19401736.2014.905860. Epub 2014 Apr 8.

PMID:
24708134
16.

Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.

Ugalde C, Hinttala R, Timal S, Smeets R, Rodenburg RJ, Uusimaa J, van Heuvel LP, Nijtmans LG, Majamaa K, Smeitink JA.

Mol Genet Metab. 2007 Jan;90(1):10-4. Epub 2006 Sep 22.

PMID:
16996290
17.

The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.

Brautbar A, Wang J, Abdenur JE, Chang RC, Thomas JA, Grebe TA, Lim C, Weng SW, Graham BH, Wong LJ.

Mol Genet Metab. 2008 Aug;94(4):485-90. doi: 10.1016/j.ymgme.2008.04.004. Epub 2008 May 20.

PMID:
18495510
18.

A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.

Crimi M, Galbiati S, Moroni I, Bordoni A, Perini MP, Lamantea E, Sciacco M, Zeviani M, Biunno I, Moggio M, Scarlato G, Comi GP.

Neurology. 2003 Jun 10;60(11):1857-61.

PMID:
12796552
19.

Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations.

Procaccio V, Wallace DC.

Neurology. 2004 May 25;62(10):1899-901. Review.

20.

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.

Ann Neurol. 2004 Jan;55(1):58-64.

PMID:
14705112
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