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Items: 1 to 20 of 22

1.

Rapid Detection of the mt3243A > G Mutation Using Urine Sediment in Elderly Chinese Type 2 Diabetic Patients.

Zhang Y, Du X, Geng X, Chu C, Lu H, Shen Y, Chen R, Fang P, Feng Y, Zhang X, Chen Y, Zhou Y, Wang C, Jia W.

J Diabetes Res. 2017;2017:4683857. doi: 10.1155/2017/4683857. Epub 2017 Jun 21.

2.

Association of mitochondrial DNA variants with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) symptoms.

Hanson MR, Gu Z, Keinan A, Ye K, Germain A, Billing-Ross P.

J Transl Med. 2016 Dec 20;14(1):342. doi: 10.1186/s12967-016-1104-5.

3.

Attitudes toward prevention of mtDNA-related diseases through oocyte mitochondrial replacement therapy.

Engelstad K, Sklerov M, Kriger J, Sanford A, Grier J, Ash D, Egli D, DiMauro S, Thompson JL, Sauer MV, Hirano M.

Hum Reprod. 2016 May;31(5):1058-65. doi: 10.1093/humrep/dew033. Epub 2016 Mar 2.

4.

Large-scale mitochondrial DNA deletion underlying familial multiple system atrophy of the cerebellar subtype.

Alsemari A, Al-Hindi HN.

Clin Case Rep. 2015 Nov 23;4(2):111-7. doi: 10.1002/ccr3.435. eCollection 2016 Feb.

5.

Mitochondrial dysfunction in inherited renal disease and acute kidney injury.

Emma F, Montini G, Parikh SM, Salviati L.

Nat Rev Nephrol. 2016 May;12(5):267-80. doi: 10.1038/nrneph.2015.214. Epub 2016 Jan 25. Review.

6.

Extensive tissue-related and allele-related mtDNA heteroplasmy suggests positive selection for somatic mutations.

Li M, Schröder R, Ni S, Madea B, Stoneking M.

Proc Natl Acad Sci U S A. 2015 Feb 24;112(8):2491-6. doi: 10.1073/pnas.1419651112. Epub 2015 Feb 9.

7.

The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome.

El-Hattab AW, Emrick LT, Williamson KC, Craigen WJ, Scaglia F.

Meta Gene. 2013 Oct 15;1:8-14. doi: 10.1016/j.mgene.2013.09.001. eCollection 2013 Dec.

8.

A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck.

Pallotti F, Binelli G, Fabbri R, Valentino ML, Vicenti R, Macciocca M, Cevoli S, Baruzzi A, DiMauro S, Carelli V.

PLoS One. 2014 May 7;9(5):e96663. doi: 10.1371/journal.pone.0096663. eCollection 2014. Erratum in: PLoS One. 2014;9(12):e115961.

9.

Targeted exome sequencing of suspected mitochondrial disorders.

Lieber DS, Calvo SE, Shanahan K, Slate NG, Liu S, Hershman SG, Gold NB, Chapman BA, Thorburn DR, Berry GT, Schmahmann JD, Borowsky ML, Mueller DM, Sims KB, Mootha VK.

Neurology. 2013 May 7;80(19):1762-70. doi: 10.1212/WNL.0b013e3182918c40. Epub 2013 Apr 17.

10.

Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype.

Iwanicka-Pronicka K, Pollak A, Skórka A, Lechowicz U, Pajdowska M, Furmanek M, Rzeski M, Korniszewski L, Skarżyński H, Płoski R.

PLoS One. 2012;7(10):e44054. doi: 10.1371/journal.pone.0044054. Epub 2012 Oct 25.

11.

A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome.

Emmanuele V, Sotiriou E, Rios PG, Ganesh J, Ichord R, Foley AR, Akman HO, Dimauro S.

J Child Neurol. 2013 Feb;28(2):236-42. doi: 10.1177/0883073812445787. Epub 2012 May 25.

12.

Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS.

Desquiret-Dumas V, Gueguen N, Barth M, Chevrollier A, Hancock S, Wallace DC, Amati-Bonneau P, Henrion D, Bonneau D, Reynier P, Procaccio V.

Biochim Biophys Acta. 2012 Jun;1822(6):1019-29. doi: 10.1016/j.bbadis.2012.01.010. Epub 2012 Jan 28.

13.

Wolff-Parkinson-white syndrome in a patient with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndrome.

Lee MH, Sung YJ, Yoon JH, Kim J, Oh IY, Choi EK, Oh S.

Korean Circ J. 2011 Nov;41(11):674-6. doi: 10.4070/kcj.2011.41.11.674. Epub 2011 Nov 29.

14.

Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria.

Karicheva OZ, Kolesnikova OA, Schirtz T, Vysokikh MY, Mager-Heckel AM, Lombès A, Boucheham A, Krasheninnikov IA, Martin RP, Entelis N, Tarassov I.

Nucleic Acids Res. 2011 Oct;39(18):8173-86. doi: 10.1093/nar/gkr546. Epub 2011 Jun 30.

15.

The neuro-ophthalmology of mitochondrial disease.

Fraser JA, Biousse V, Newman NJ.

Surv Ophthalmol. 2010 Jul-Aug;55(4):299-334. doi: 10.1016/j.survophthal.2009.10.002. Epub 2010 May 14. Review.

16.

A diagnostic algorithm for metabolic myopathies.

Berardo A, DiMauro S, Hirano M.

Curr Neurol Neurosci Rep. 2010 Mar;10(2):118-26. doi: 10.1007/s11910-010-0096-4. Review.

17.

Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.

Coku J, Shanske S, Mehrazin M, Tanji K, Naini A, Emmanuele V, Patterson M, Hirano M, DiMauro S.

J Neurol Sci. 2010 Mar 15;290(1-2):166-8. doi: 10.1016/j.jns.2009.12.001. Epub 2009 Dec 22.

18.

Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS.

Mehrazin M, Shanske S, Kaufmann P, Wei Y, Coku J, Engelstad K, Naini A, De Vivo DC, DiMauro S.

Am J Med Genet A. 2009 Feb 15;149A(4):584-7. doi: 10.1002/ajmg.a.32703.

19.

Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.

Whittaker RG, Blackwood JK, Alston CL, Blakely EL, Elson JL, McFarland R, Chinnery PF, Turnbull DM, Taylor RW.

Neurology. 2009 Feb 10;72(6):568-9. doi: 10.1212/01.wnl.0000342121.91336.4d. No abstract available.

20.

Pitfalls in the denaturing high-performance liquid chromatography analysis of mitochondrial DNA mutation.

Lim KS, Naviaux RK, Wong S, Haas RH.

J Mol Diagn. 2008 Jan;10(1):102-8. doi: 10.2353/jmoldx.2008.070081. Epub 2007 Dec 28.

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