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Results: 1 to 20 of 43

1.

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.

Lim SC, Smith KR, Stroud DA, Compton AG, Tucker EJ, Dasvarma A, Gandolfo LC, Marum JE, McKenzie M, Peters HL, Mowat D, Procopis PG, Wilcken B, Christodoulou J, Brown GK, Ryan MT, Bahlo M, Thorburn DR.

Am J Hum Genet. 2014 Feb 6;94(2):209-22. doi: 10.1016/j.ajhg.2013.12.015. Epub 2014 Jan 23.

PMID:
24462369
[PubMed - indexed for MEDLINE]
2.

Childhood moyamoya disease accompanying Leigh syndrome.

Cullu N, Karakas E, Karakas O, Deveer M, Calik M, Boyaci FN.

J Pak Med Assoc. 2013 Dec;63(12):1538-40.

PMID:
24397103
[PubMed - indexed for MEDLINE]
3.

A hemizygous GYG2 mutation and Leigh syndrome: a possible link?

Imagawa E, Osaka H, Yamashita A, Shiina M, Takahashi E, Sugie H, Nakashima M, Tsurusaki Y, Saitsu H, Ogata K, Matsumoto N, Miyake N.

Hum Genet. 2014 Feb;133(2):225-34. doi: 10.1007/s00439-013-1372-6. Epub 2013 Oct 8.

PMID:
24100632
[PubMed - indexed for MEDLINE]
4.

Genetic and biochemical findings in Chinese children with Leigh syndrome.

Ma YY, Wu TF, Liu YP, Wang Q, Song JQ, Li XY, Shi XY, Zhang WN, Zhao M, Hu LY, Yang YL, Zou LP.

J Clin Neurosci. 2013 Nov;20(11):1591-4. doi: 10.1016/j.jocn.2013.03.034. Epub 2013 Aug 13.

PMID:
23953430
[PubMed - indexed for MEDLINE]
5.

A patient with congenital hyperlactataemia and Leigh syndrome: an uncommon mitochondrial variant.

Ching CK, Mak CM, Au KM, Chan KY, Yuen YP, Yau EK, Ma LC, Chow HL, Chan AY.

Hong Kong Med J. 2013 Aug;19(4):357-61. doi: 10.12809/hkmj133673.

PMID:
23918514
[PubMed - indexed for MEDLINE]
Free Article
6.

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
[PubMed - indexed for MEDLINE]
7.

Chewing-induced segmental myoclonus in a patient with Leigh syndrome.

Navarro-Otano J, Valls-Solé J, Guaita M, Santamaria J, Cardellach F, Muñoz E.

Mov Disord. 2013 Oct;28(12):1756-7. doi: 10.1002/mds.25516. Epub 2013 Jun 18. No abstract available.

PMID:
23780927
[PubMed - indexed for MEDLINE]
8.

A guide to diagnosis and treatment of Leigh syndrome.

Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F.

J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):257-65. doi: 10.1136/jnnp-2012-304426. Epub 2013 Jun 14. Review.

PMID:
23772060
[PubMed - indexed for MEDLINE]
9.

Persistent hyperlactacidaemia: about a clinical case.

Oliveira AR, Valente R, Ramos J, Ventura L.

BMJ Case Rep. 2013 May 22;2013. pii: bcr2013009485. doi: 10.1136/bcr-2013-009485.

PMID:
23704442
[PubMed - indexed for MEDLINE]
10.

Anesthetic management of a pediatric patient with Leigh syndrome.

Serhat Kocamanoglu I, Sarihasan E.

Rev Bras Anestesiol. 2013 Mar-Apr;63(2):220-2. doi: 10.1016/S0034-7094(13)70219-8.

PMID:
23601265
[PubMed - indexed for MEDLINE]
Free Article
11.

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]
Free Article
12.

Juvenile parkinsonism, hypogonadism and Leigh-like MRI changes in a patient with m.4296G>A mutation in mitochondrial DNA.

Martikainen MH, Kytövuori L, Majamaa K.

Mitochondrion. 2013 Mar;13(2):83-6. doi: 10.1016/j.mito.2013.01.012. Epub 2013 Feb 7.

PMID:
23395828
[PubMed - indexed for MEDLINE]
13.

Mitochondrial depletion causes neonatal-onset leigh syndrome, myopathy, and renal tubulopathy.

Lee IC, Lee NC, Lu JJ, Su PH.

J Child Neurol. 2013 Mar;28(3):404-8. doi: 10.1177/0883073812469722. Epub 2013 Jan 9.

PMID:
23307888
[PubMed - indexed for MEDLINE]
14.

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]
15.

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]
16.

Early spinal cord and brainstem involvement in infantile Leigh syndrome possibly caused by a novel variant.

Tenney JR, Prada CE, Hopkin RJ, Hallinan BE.

J Child Neurol. 2013 Dec;28(12):1681-5. doi: 10.1177/0883073812464273. Epub 2012 Nov 8.

PMID:
23143729
[PubMed - indexed for MEDLINE]
17.

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]
18.

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]
19.

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]
20.

Late-onset Leigh syndrome with myoclonic epilepsy with ragged-red fibers.

Monden Y, Mori M, Kuwajima M, Goto T, Yamagata T, Momoi MY.

Brain Dev. 2013 Jun;35(6):582-5. doi: 10.1016/j.braindev.2012.08.006. Epub 2012 Sep 13.

PMID:
22981260
[PubMed - indexed for MEDLINE]

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