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Items: 12


Mitochondrial mutations in maternally inherited hearing loss.

Mutai H, Watabe T, Kosaki K, Ogawa K, Matsunaga T.

BMC Med Genet. 2017 Mar 20;18(1):32. doi: 10.1186/s12881-017-0389-4.


Circlator: automated circularization of genome assemblies using long sequencing reads.

Hunt M, Silva ND, Otto TD, Parkhill J, Keane JA, Harris SR.

Genome Biol. 2015 Dec 29;16:294. doi: 10.1186/s13059-015-0849-0.


Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.

Gorman GS, Schaefer AM, Ng Y, Gomez N, Blakely EL, Alston CL, Feeney C, Horvath R, Yu-Wai-Man P, Chinnery PF, Taylor RW, Turnbull DM, McFarland R.

Ann Neurol. 2015 May;77(5):753-9. doi: 10.1002/ana.24362. Epub 2015 Mar 28.


The use of mitochondria-targeted endonucleases to manipulate mtDNA.

Bacman SR, Williams SL, Pinto M, Moraes CT.

Methods Enzymol. 2014;547:373-97. doi: 10.1016/B978-0-12-801415-8.00018-7.


Genomics and genetics in the biology of adaptation to exercise.

Bouchard C, Rankinen T, Timmons JA.

Compr Physiol. 2011 Jul;1(3):1603-48. doi: 10.1002/cphy.c100059. Review.


Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.

Uusimaa J, Jungbluth H, Fratter C, Crisponi G, Feng L, Zeviani M, Hughes I, Treacy EP, Birks J, Brown GK, Sewry CA, McDermott M, Muntoni F, Poulton J.

J Med Genet. 2011 Oct;48(10):660-668. doi: 10.1136/jmg.2011.089995.


Mitochondrial involvement in psychiatric disorders.

Shao L, Martin MV, Watson SJ, Schatzberg A, Akil H, Myers RM, Jones EG, Bunney WE, Vawter MP.

Ann Med. 2008;40(4):281-95. doi: 10.1080/07853890801923753. Review. Erratum in: Ann Med. 2011 Jun;43(4):329.


Mitochondrial DNA mutations in human disease.

Taylor RW, Turnbull DM.

Nat Rev Genet. 2005 May;6(5):389-402. Review.


Techniques and pitfalls in the detection of pathogenic mitochondrial DNA mutations.

Moraes CT, Atencio DP, Oca-Cossio J, Diaz F.

J Mol Diagn. 2003 Nov;5(4):197-208. Review.


At the speed of sound: gene discovery in the auditory system.

Resendes BL, Williamson RE, Morton CC.

Am J Hum Genet. 2001 Nov;69(5):923-35. Epub 2001 Sep 27. Review.


Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene.

Keightley JA, Anitori R, Burton MD, Quan F, Buist NR, Kennaway NG.

Am J Hum Genet. 2000 Dec;67(6):1400-10. Epub 2000 Oct 20.

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