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Items: 1 to 20 of 234

1.

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.

2.

Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.

Kirby DM, Boneh A, Chow CW, Ohtake A, Ryan MT, Thyagarajan D, Thorburn DR.

Ann Neurol. 2003 Oct;54(4):473-8.

PMID:
14520659
3.

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
4.

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
5.

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.

6.

Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.

Castagna AE, Addis J, McInnes RR, Clarke JT, Ashby P, Blaser S, Robinson BH.

Am J Med Genet A. 2007 Apr 15;143A(8):808-16.

PMID:
17352390
7.

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
8.

Two new mutations in the MTATP6 gene associated with Leigh syndrome.

Moslemi AR, Darin N, Tulinius M, Oldfors A, Holme E.

Neuropediatrics. 2005 Oct;36(5):314-8.

PMID:
16217706
9.

Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families.

Kirby DM, Kahler SG, Freckmann ML, Reddihough D, Thorburn DR.

Ann Neurol. 2000 Jul;48(1):102-4.

PMID:
10894222
10.

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.

11.

Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.

Ugalde C, Triepels RH, Coenen MJ, van den Heuvel LP, Smeets R, Uusimaa J, Briones P, Campistol J, Majamaa K, Smeitink JA, Nijtmans LG.

Ann Neurol. 2003 Nov;54(5):665-9.

PMID:
14595656
12.

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
13.

The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases.

Shanske S, Coku J, Lu J, Ganesh J, Krishna S, Tanji K, Bonilla E, Naini AB, Hirano M, DiMauro S.

Arch Neurol. 2008 Mar;65(3):368-72. doi: 10.1001/archneurol.2007.67.

PMID:
18332249
14.

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
15.

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome.

Carrozzo R, Tessa A, Vázquez-Memije ME, Piemonte F, Patrono C, Malandrini A, Dionisi-Vici C, Vilarinho L, Villanova M, Schägger H, Federico A, Bertini E, Santorelli FM.

Neurology. 2001 Mar 13;56(5):687-90.

PMID:
11245730
16.

A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.

Santorelli FM, Shanske S, Jain KD, Tick D, Schon EA, DiMauro S.

Neurology. 1994 May;44(5):972-4.

PMID:
8190310
17.

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
18.

[Leigh syndrome caused by the mitochondrial DNA G14459A mutation in a Mexican family].

Gutiérrez A, Saldaña-Martínez A, García-Ramírez R, Rayo-Mares D, Carreras M, López-Pérez MJ, Ruiz-Pesini E, Montoya J, Montiel-Sosa JF.

Rev Neurol. 2009 Sep 1-15;49(5):248-50. Spanish.

19.

Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variants.

Wani AA, Ahanger SH, Bapat SA, Rangrez AY, Hingankar N, Suresh CG, Barnabas S, Patole MS, Shouche YS.

PLoS One. 2007 Sep 26;2(9):e942.

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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