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Items: 1 to 20 of 112

1.

A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms.

Wray CD, Friederich MW, du Sart D, Pantaleo S, Smet J, Kucera C, Fenton L, Scharer G, Van Coster R, Van Hove JL.

Mitochondrion. 2013 Nov;13(6):656-61. doi: 10.1016/j.mito.2013.09.004. Epub 2013 Sep 22.

PMID:
24063851
2.

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.

3.

Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions.

La Morgia C, Caporali L, Gandini F, Olivieri A, Toni F, Nassetti S, Brunetto D, Stipa C, Scaduto C, Parmeggiani A, Tonon C, Lodi R, Torroni A, Carelli V.

BMC Neurol. 2014 May 28;14:116. doi: 10.1186/1471-2377-14-116.

4.

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.

5.

Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions.

Caporali L, Ghelli AM, Iommarini L, Maresca A, Valentino ML, La Morgia C, Liguori R, Zanna C, Barboni P, De Nardo V, Martinuzzi A, Rizzo G, Tonon C, Lodi R, Calvaruso MA, Cappelletti M, Porcelli AM, Achilli A, Pala M, Torroni A, Carelli V.

Biochim Biophys Acta. 2013 Mar;1832(3):445-52. doi: 10.1016/j.bbadis.2012.12.002. Epub 2012 Dec 14.

6.

Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome.

Negishi Y, Hattori A, Takeshita E, Sakai C, Ando N, Ito T, Goto Y, Saitoh S.

J Hum Genet. 2014 Jul;59(7):405-7. doi: 10.1038/jhg.2014.41. Epub 2014 May 15.

PMID:
24830958
7.

Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation.

Fruhman G, Landsverk ML, Lotze TE, Hunter JV, Wangler MF, Adesina AM, Wong LJ, Scaglia F.

Mol Genet Metab. 2011 Jun;103(2):153-60. doi: 10.1016/j.ymgme.2011.02.014. Epub 2011 Feb 26.

PMID:
21414825
8.

[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.

9.

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
10.

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA.

Brain. 2007 Mar;130(Pt 3):862-74. Epub 2007 Feb 14.

11.

A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.

Spruijt L, Smeets HJ, Hendrickx A, Bettink-Remeijer MW, Maat-Kievit A, Schoonderwoerd KC, Sluiter W, de Coo IF, Hintzen RQ.

Arch Neurol. 2007 Jun;64(6):890-3.

PMID:
17562939
12.

Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients.

Zhang AM, Jia X, Guo X, Zhang Q, Yao YG.

J Transl Med. 2012 Mar 9;10:43. doi: 10.1186/1479-5876-10-43.

13.

Mild clinical manifestation and unusual recovery upon coenzyme Q₁₀ treatment in the first Chinese Leigh syndrome pedigree with mutation m.10197 G>A.

Chen Z, Zhao Z, Ye Q, Chen Y, Pan X, Sun B, Huang H, Zheng A.

Mol Med Rep. 2015 Mar;11(3):1956-62. doi: 10.3892/mmr.2014.2911. Epub 2014 Nov 10.

PMID:
25384404
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.

Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report.

Ronchi D, Cosi A, Tonduti D, Orcesi S, Bordoni A, Fortunato F, Rizzuti M, Sciacco M, Collotta M, Cagdas S, Capovilla G, Moggio M, Berardinelli A, Veggiotti P, Comi GP.

BMC Neurol. 2011 Jul 12;11:85. doi: 10.1186/1471-2377-11-85.

16.

Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C.

Tarnopolsky M, Meaney B, Robinson B, Sheldon K, Boles RG.

Am J Med Genet A. 2013 Aug;161A(8):2020-3. doi: 10.1002/ajmg.a.36000. Epub 2013 Jun 27.

PMID:
23813926
17.

Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family.

Wang J, Brautbar A, Chan AK, Dzwiniel T, Li FY, Waters PJ, Graham BH, Wong LJ.

Mol Genet Metab. 2009 Feb;96(2):59-65. doi: 10.1016/j.ymgme.2008.10.006. Epub 2008 Dec 4.

PMID:
19062322
18.

The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White.

Ruiter EM, Siers MH, van den Elzen C, van Engelen BG, Smeitink JA, Rodenburg RJ, Hol FA.

Eur J Hum Genet. 2007 Feb;15(2):155-61. Epub 2006 Nov 15.

19.

Infantile spasms with basal ganglia MRI hypersignal may reveal mitochondrial disorder due to T8993G MT DNA mutation.

Desguerre I, Pinton F, Nabbout R, Moutard ML, N'Guyen S, Marsac C, Ponsot G, Dulac O.

Neuropediatrics. 2003 Jun;34(5):265-9.

PMID:
14598233
20.

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
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