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Results: 1 to 20 of 45

Select item 234236711.

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.

Gerards M, Kamps R, van Oevelen J, Boesten I, Jongen E, de Koning B, Scholte HR, de Angst I, Schoonderwoerd K, Sefiani A, Ratbi I, Coppieters W, Karim L, de Coo R, van den Bosch B, Smeets H.

Brain. 2013 Mar;136(Pt 3):882-90. doi: 10.1093/brain/awt013. Epub 2013 Feb 18.

PMID:: 23423671; [PubMed - indexed for MEDLINE]

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Select item 232900252.

Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency.

Quinonez SC, Leber SM, Martin DM, Thoene JG, Bedoyan JK.

Pediatr Neurol. 2013 Jan;48(1):67-72. doi: 10.1016/j.pediatrneurol.2012.09.013.

PMID:: 23290025; [PubMed - indexed for MEDLINE]

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Select item 232668203.

Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.

Marin SE, Mesterman R, Robinson B, Rodenburg RJ, Smeitink J, Tarnopolsky MA.

Gene. 2013 Mar 1;516(1):162-7. doi: 10.1016/j.gene.2012.12.024. Epub 2012 Dec 22.

PMID:: 23266820; [PubMed - indexed for MEDLINE]

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Select item 231111604.

Mitochondrial DNA haplogroup Y is associated to Leigh syndrome in Chinese population.

Hao XD, Yang YL, Tang NL, Kong QP, Wu SF, Zhang YP.

Gene. 2013 Jan 10;512(2):460-3. doi: 10.1016/j.gene.2012.10.054. Epub 2012 Oct 27.

PMID:: 23111160; [PubMed - indexed for MEDLINE]

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Select item 230210685.

Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.

DeBrosse SD, Okajima K, Zhang S, Nakouzi G, Schmotzer CL, Lusk-Kopp M, Frohnapfel MB, Grahame G, Kerr DS.

Mol Genet Metab. 2012 Nov;107(3):394-402. doi: 10.1016/j.ymgme.2012.09.001. Epub 2012 Sep 7.

PMID:: 23021068; [PubMed - indexed for MEDLINE]

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Select item 230104336.

EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome.

Martinelli D, Catteruccia M, Piemonte F, Pastore A, Tozzi G, Dionisi-Vici C, Pontrelli G, Corsetti T, Livadiotti S, Kheifets V, Hinman A, Shrader WD, Thoolen M, Klein MB, Bertini E, Miller G.

Mol Genet Metab. 2012 Nov;107(3):383-8. doi: 10.1016/j.ymgme.2012.09.007. Epub 2012 Sep 10.

PMID:: 23010433; [PubMed - indexed for MEDLINE]

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Select item 228192957.

Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene.

Kara B, Arıkan M, Maraş H, Abacı N, Cakıris A, Ustek D.

Mol Genet Metab. 2012 Nov;107(3):389-93. doi: 10.1016/j.ymgme.2012.06.013. Epub 2012 Jul 10.

PMID:: 22819295; [PubMed - indexed for MEDLINE]

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Select item 226530578.

Fatal breathing dysfunction in a mouse model of Leigh syndrome.

Quintana A, Zanella S, Koch H, Kruse SE, Lee D, Ramirez JM, Palmiter RD.

J Clin Invest. 2012 Jul 2;122(7):2359-68. doi: 10.1172/JCI62923. Epub 2012 Jun 1.

PMID:: 22653057; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 225359529.

Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene.

Leong DW, Komen JC, Hewitt CA, Arnaud E, McKenzie M, Phipson B, Bahlo M, Laskowski A, Kinkel SA, Davey GM, Heath WR, Voss AK, Zahedi RP, Pitt JJ, Chrast R, Sickmann A, Ryan MT, Smyth GK, Thorburn DR, Scott HS.

J Biol Chem. 2012 Jun 8;287(24):20652-63. doi: 10.1074/jbc.M111.327601. Epub 2012 Apr 25.

PMID:: 22535952; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2248871510.

SURF1-associated Leigh syndrome: a case series and novel mutations.

Lee IC, El-Hattab AW, Wang J, Li FY, Weng SW, Craigen WJ, Wong LJ.

Hum Mutat. 2012 Aug;33(8):1192-200. doi: 10.1002/humu.22095. Epub 2012 Apr 30.

PMID:: 22488715; [PubMed - indexed for MEDLINE]

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Select item 2246503411.

Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations.

Kovářová N, Cížková Vrbacká A, Pecina P, Stránecký V, Pronicka E, Kmoch S, Houštěk J.

Biochim Biophys Acta. 2012 Jul;1822(7):1114-24. doi: 10.1016/j.bbadis.2012.03.007. Epub 2012 Mar 20.

PMID:: 22465034; [PubMed - indexed for MEDLINE]

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Select item 2244140912.

Sudden death in Leigh syndrome: an autopsy case.

Ventura F, Rocca G, Gentile R, De Stefano F.

Am J Forensic Med Pathol. 2012 Sep;33(3):259-61. doi: 10.1097/PAF.0b013e31824e5be0.

PMID:: 22441409; [PubMed - indexed for MEDLINE]

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Select item 2241047113.

Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations.

Tanigawa J, Kaneko K, Honda M, Harashima H, Murayama K, Wada T, Takano K, Iai M, Yamashita S, Shimbo H, Aida N, Ohtake A, Osaka H.

Brain Dev. 2012 Nov;34(10):861-5. doi: 10.1016/j.braindev.2012.02.007. Epub 2012 Mar 10.

PMID:: 22410471; [PubMed - indexed for MEDLINE]

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Select item 2236451714.

The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.

Nesbitt V, Morrison PJ, Crushell E, Donnelly DE, Alston CL, He L, McFarland R, Taylor RW.

Dev Med Child Neurol. 2012 Jun;54(6):500-6. doi: 10.1111/j.1469-8749.2012.04224.x. Epub 2012 Feb 27. Review.

PMID:: 22364517; [PubMed - indexed for MEDLINE]

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Select item 2234849715.

A novel mitochondrial DNA 8597T>C mutation of Leigh syndrome: report of one case.

Tsai JD, Liu CS, Tsao TF, Sheu JN.

Pediatr Neonatol. 2012 Feb;53(1):60-2. doi: 10.1016/j.pedneo.2011.11.012. Epub 2012 Jan 13.

PMID:: 22348497; [PubMed - indexed for MEDLINE]

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Select item 2234207116.

Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.

Scalais E, Francois B, Schlesser P, Stevens R, Nuttin C, Martin JJ, Van Coster R, Seneca S, Roels F, Van Goethem G, Löfgren A, De Meirleir L.

Eur J Paediatr Neurol. 2012 Sep;16(5):542-8. doi: 10.1016/j.ejpn.2012.01.013. Epub 2012 Feb 17.

PMID:: 22342071; [PubMed - indexed for MEDLINE]

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Select item 2232655517.

A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.

Assouline Z, Jambou M, Rio M, Bole-Feysot C, de Lonlay P, Barnerias C, Desguerre I, Bonnemains C, Guillermet C, Steffann J, Munnich A, Bonnefont JP, Rötig A, Lebre AS.

Biochim Biophys Acta. 2012 Jun;1822(6):1062-9. doi: 10.1016/j.bbadis.2012.01.013. Epub 2012 Feb 3.

PMID:: 22326555; [PubMed - indexed for MEDLINE]

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Select item 2227311718.

Late-adult onset Leigh syndrome.

McKelvie P, Infeld B, Marotta R, Chin J, Thorburn D, Collins S.

J Clin Neurosci. 2012 Feb;19(2):195-202. doi: 10.1016/j.jocn.2011.09.009. Review.

PMID:: 22273117; [PubMed - indexed for MEDLINE]

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Select item 2224170319.

Mitochondrial DNA 8993T>G mutation in a child with ornithine transcarbamylase deficiency and leigh syndrome: an unexpected association.

Henriques M, Diogo L, Garcia P, Pratas J, Simões M, Grazina M.

J Child Neurol. 2012 Aug;27(8):1059-61. doi: 10.1177/0883073811431015. Epub 2012 Jan 12.

PMID:: 22241703; [PubMed - indexed for MEDLINE]

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Select item 2220222620.

Low-concentration methylene blue maintains energy production and strongly improves survival of Leigh syndrome French Canadian skin fibroblasts.

Legault J, Larouche PL, Côté I, Bouchard L, Pichette A, Robinson BH, Morin C.

J Pharm Pharm Sci. 2011;14(3):438-49.

PMID:: 22202226; [PubMed - indexed for MEDLINE]

Free Article

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12 free full-text articles in PubMed Central

Fatal breathing dysfunction in a mouse model of Leigh syndrome. [J Clin Invest. 2012]
Fatal breathing dysfunction in a mouse model of Leigh syndrome.
Quintana A, Zanella S, Koch H, Kruse SE, Lee D, Ramirez JM, Palmiter RD. J Clin Invest. 2012 Jul 2; 122(7):2359-68. Epub 2012 Jun 1.
Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene. [J Biol Chem. 2012]
Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene.
Leong DW, Komen JC, Hewitt CA, Arnaud E, McKenzie M, Phipson B, Bahlo M, Laskowski A, Kinkel SA, Davey GM, et al. J Biol Chem. 2012 Jun 8; 287(24):20652-63. Epub 2012 Apr 25.
LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs. [EMBO J. 2012]
LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs.
Ruzzenente B, Metodiev MD, Wredenberg A, Bratic A, Park CB, Cámara Y, Milenkovic D, Zickermann V, Wibom R, Hultenby K, et al. EMBO J. 2012 Jan 18; 31(2):443-56. Epub 2011 Nov 1.

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