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Items: 1 to 20 of 63

1.

Mitochondrial genetics and therapeutic overview of Leber's hereditary optic neuropathy.

Manickam AH, Michael MJ, Ramasamy S.

Indian J Ophthalmol. 2017 Nov;65(11):1087-1092. doi: 10.4103/ijo.IJO_358_17. Review.

2.

Detection and quantification of mitochondrial DNA deletions from next-generation sequence data.

Bosworth CM, Grandhi S, Gould MP, LaFramboise T.

BMC Bioinformatics. 2017 Oct 16;18(Suppl 12):407. doi: 10.1186/s12859-017-1821-7.

3.

Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON).

Martins FTA, Miranda PMDAD, Fernandes MSA, Maciel-Guerra AT, Sartorato EL.

Mol Vis. 2017 Jul 21;23:495-503. eCollection 2017.

4.
5.

Multiplex MALDI-TOF MS detection of mitochondrial variants in Brazilian patients with hereditary optic neuropathy.

Miranda PM, Matilde da Silva-Costa S, Balieiro JC, Fernandes MS, Alves RM, Guerra AT, Marcondes AM, Sartorato EL.

Mol Vis. 2016 Aug 13;22:1024-35. eCollection 2016.

6.

Leber's 'Plus' in a Korean Patient with 14484/ND6 Mutation.

Kim SH, Kim JS.

J Clin Neurol. 2016 Oct;12(4):512-514. doi: 10.3988/jcn.2016.12.4.512. Epub 2016 Jul 26. No abstract available.

7.

A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest.

Santorsola M, Calabrese C, Girolimetti G, Diroma MA, Gasparre G, Attimonelli M.

Hum Genet. 2016 Jan;135(1):121-36. doi: 10.1007/s00439-015-1615-9. Epub 2015 Nov 30.

8.

Development and validation of a novel PCR-RFLP based method for the detection of 3 primary mitochondrial mutations in Leber's hereditary optic neuropathy patients.

Eustace Ryan S, Ryan F, Barton D, O'Dwyer V, Neylan D.

Eye Vis (Lond). 2015 Oct 25;2:18. doi: 10.1186/s40662-015-0028-0. eCollection 2015.

9.

Oxidative stress in inherited mitochondrial diseases.

Hayashi G, Cortopassi G.

Free Radic Biol Med. 2015 Nov;88(Pt A):10-7. doi: 10.1016/j.freeradbiomed.2015.05.039. Epub 2015 Jun 12. Review.

10.

Mitochondrial DNA disease and developmental implications for reproductive strategies.

Burgstaller JP, Johnston IG, Poulton J.

Mol Hum Reprod. 2015 Jan;21(1):11-22. doi: 10.1093/molehr/gau090. Epub 2014 Nov 24. Review.

11.

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.

12.

Energy metabolism of the visual system.

Wong-Riley MT.

Eye Brain. 2010;2:99-116. Epub 2010 Jul 22.

13.

Leber hereditary optic neuropathy and oxidative stress.

Zhuo Y, Luo H, Zhang K.

Proc Natl Acad Sci U S A. 2012 Dec 4;109(49):19882-3. doi: 10.1073/pnas.1218953109. Epub 2012 Nov 29. No abstract available.

14.

Profiling of T helper cell-derived small RNAs reveals unique antisense transcripts and differential association of miRNAs with argonaute proteins 1 and 2.

Polikepahad S, Corry DB.

Nucleic Acids Res. 2013 Jan;41(2):1164-77. doi: 10.1093/nar/gks1098. Epub 2012 Nov 26.

15.

Mouse mtDNA mutant model of Leber hereditary optic neuropathy.

Lin CS, Sharpley MS, Fan W, Waymire KG, Sadun AA, Carelli V, Ross-Cisneros FN, Baciu P, Sung E, McManus MJ, Pan BX, Gil DW, Macgregor GR, Wallace DC.

Proc Natl Acad Sci U S A. 2012 Dec 4;109(49):20065-70. doi: 10.1073/pnas.1217113109. Epub 2012 Nov 5.

16.

Idebenone protects against retinal damage and loss of vision in a mouse model of Leber's hereditary optic neuropathy.

Heitz FD, Erb M, Anklin C, Robay D, Pernet V, Gueven N.

PLoS One. 2012;7(9):e45182. doi: 10.1371/journal.pone.0045182. Epub 2012 Sep 18.

17.

Three-dimensional structures of membrane proteins from genomic sequencing.

Hopf TA, Colwell LJ, Sheridan R, Rost B, Sander C, Marks DS.

Cell. 2012 Jun 22;149(7):1607-21. doi: 10.1016/j.cell.2012.04.012. Epub 2012 May 10.

18.

Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans.

Ji F, Sharpley MS, Derbeneva O, Alves LS, Qian P, Wang Y, Chalkia D, Lvova M, Xu J, Yao W, Simon M, Platt J, Xu S, Angelin A, Davila A, Huang T, Wang PH, Chuang LM, Moore LG, Qian G, Wallace DC.

Proc Natl Acad Sci U S A. 2012 May 8;109(19):7391-6. doi: 10.1073/pnas.1202484109. Epub 2012 Apr 18.

19.

Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease.

van der Walt EM, Smuts I, Taylor RW, Elson JL, Turnbull DM, Louw R, van der Westhuizen FH.

Eur J Hum Genet. 2012 Jun;20(6):650-6. doi: 10.1038/ejhg.2011.262. Epub 2012 Jan 18.

20.

Bioenergetic origins of complexity and disease.

Wallace DC.

Cold Spring Harb Symp Quant Biol. 2011;76:1-16. doi: 10.1101/sqb.2011.76.010462. Epub 2011 Dec 22. Review.

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