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Items: 12

1.

Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions.

Lehmann D, Kornhuber ME, Clajus C, Alston CL, Wienke A, Deschauer M, Taylor RW, Zierz S.

Neurol Genet. 2016 Oct 19;2(6):e113. eCollection 2016 Dec.

2.

Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome.

Yu M, Zhang Z, Wang QQ, Liu J, Zuo YH, Yu L, Xiao JX, Zhang W, Yuan Y, Wang ZX.

Chin Med J (Engl). 2016 Jun 20;129(12):1419-24. doi: 10.4103/0366-6999.183417.

3.

Mitochondrial disorders in children: toward development of small-molecule treatment strategies.

Koopman WJ, Beyrath J, Fung CW, Koene S, Rodenburg RJ, Willems PH, Smeitink JA.

EMBO Mol Med. 2016 Apr 1;8(4):311-27. doi: 10.15252/emmm.201506131. Review.

4.

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.

Broomfield A, Sweeney MG, Woodward CE, Fratter C, Morris AM, Leonard JV, Abulhoul L, Grunewald S, Clayton PT, Hanna MG, Poulton J, Rahman S.

J Inherit Metab Dis. 2015 May;38(3):445-57. doi: 10.1007/s10545-014-9778-4. Epub 2014 Oct 29.

5.

DNA sequences proximal to human mitochondrial DNA deletion breakpoints prevalent in human disease form G-quadruplexes, a class of DNA structures inefficiently unwound by the mitochondrial replicative Twinkle helicase.

Bharti SK, Sommers JA, Zhou J, Kaplan DL, Spelbrink JN, Mergny JL, Brosh RM Jr.

J Biol Chem. 2014 Oct 24;289(43):29975-93. doi: 10.1074/jbc.M114.567073. Epub 2014 Sep 5.

6.

Kearns-Sayre syndrome: a case series of 35 adults and children.

Khambatta S, Nguyen DL, Beckman TJ, Wittich CM.

Int J Gen Med. 2014 Jul 3;7:325-32. doi: 10.2147/IJGM.S65560. eCollection 2014.

7.

Disease progression in patients with single, large-scale mitochondrial DNA deletions.

Grady JP, Campbell G, Ratnaike T, Blakely EL, Falkous G, Nesbitt V, Schaefer AM, McNally RJ, Gorman GS, Taylor RW, Turnbull DM, McFarland R.

Brain. 2014 Feb;137(Pt 2):323-34. doi: 10.1093/brain/awt321. Epub 2013 Nov 25.

8.

Large mitochondrial DNA deletion in an infant with addison disease.

Duran GP, Martinez-Aguayo A, Poggi H, Lagos M, Gutierrez D, Harris PR.

JIMD Rep. 2012;3:5-9. doi: 10.1007/8904_2011_33. Epub 2011 Sep 22.

9.

Autophagy is increased in postmortem brains of persons with HIV-1-associated encephalitis.

Zhou D, Masliah E, Spector SA.

J Infect Dis. 2011 Jun 1;203(11):1647-57. doi: 10.1093/infdis/jir163.

10.

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.

11.

Somatic mitochondrial DNA deletions accumulate to high levels in aging human extraocular muscles.

Yu-Wai-Man P, Lai-Cheong J, Borthwick GM, He L, Taylor GA, Greaves LC, Taylor RW, Griffiths PG, Turnbull DM.

Invest Ophthalmol Vis Sci. 2010 Jul;51(7):3347-53. doi: 10.1167/iovs.09-4660. Epub 2010 Feb 17.

12.

Intra- and inter-molecular recombination of mitochondrial DNA after in vivo induction of multiple double-strand breaks.

Bacman SR, Williams SL, Moraes CT.

Nucleic Acids Res. 2009 Jul;37(13):4218-26. doi: 10.1093/nar/gkp348. Epub 2009 May 12.

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