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Results: 10

Cited In for PubMed (Select 19353676)

1.

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.

Morino H, Pierce SB, Matsuda Y, Walsh T, Ohsawa R, Newby M, Hiraki-Kamon K, Kuramochi M, Lee MK, Klevit RE, Martin A, Maruyama H, King MC, Kawakami H.

Neurology. 2014 Nov 25;83(22):2054-61. doi: 10.1212/WNL.0000000000001036. Epub 2014 Oct 29.

PMID:
25355836
2.

Defects of mitochondrial DNA replication.

Copeland WC.

J Child Neurol. 2014 Sep;29(9):1216-24. doi: 10.1177/0883073814537380. Epub 2014 Jun 30. Review.

PMID:
24985751
3.

Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy.

Park MH, Woo HM, Hong YB, Park JH, Yoon BR, Park JM, Yoo JH, Koo H, Chae JH, Chung KW, Choi BO, Koo SK.

Neurogenetics. 2014 Aug;15(3):171-82. doi: 10.1007/s10048-014-0405-1. Epub 2014 May 10.

4.

Deletion of heart-type cytochrome c oxidase subunit 7a1 impairs skeletal muscle angiogenesis and oxidative phosphorylation.

Lee I, Hüttemann M, Liu J, Grossman LI, Malek MH.

J Physiol. 2012 Oct 15;590(Pt 20):5231-43. doi: 10.1113/jphysiol.2012.239707. Epub 2012 Aug 6.

5.

Defects in mitochondrial DNA replication and human disease.

Copeland WC.

Crit Rev Biochem Mol Biol. 2012 Jan-Feb;47(1):64-74. doi: 10.3109/10409238.2011.632763. Review.

6.

SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia.

Park KP, Kim HS, Kim ES, Park YE, Lee CH, Kim DS.

J Clin Neurol. 2011 Mar;7(1):25-30. doi: 10.3988/jcn.2011.7.1.25. Epub 2011 Mar 31.

7.

The importance of mitochondria in age-related and inherited eye disorders.

Jarrett SG, Lewin AS, Boulton ME.

Ophthalmic Res. 2010;44(3):179-90. doi: 10.1159/000316480. Epub 2010 Sep 9. Review.

8.

Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.

Longley MJ, Humble MM, Sharief FS, Copeland WC.

J Biol Chem. 2010 Sep 24;285(39):29690-702. doi: 10.1074/jbc.M110.151795. Epub 2010 Jul 20.

9.

Parkin overexpression selects against a deleterious mtDNA mutation in heteroplasmic cybrid cells.

Suen DF, Narendra DP, Tanaka A, Manfredi G, Youle RJ.

Proc Natl Acad Sci U S A. 2010 Jun 29;107(26):11835-40. doi: 10.1073/pnas.0914569107. Epub 2010 Jun 14.

10.

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

Fratter C, Gorman GS, Stewart JD, Buddles M, Smith C, Evans J, Seller A, Poulton J, Roberts M, Hanna MG, Rahman S, Omer SE, Klopstock T, Schoser B, Kornblum C, Czermin B, Lecky B, Blakely EL, Craig K, Chinnery PF, Turnbull DM, Horvath R, Taylor RW.

Neurology. 2010 May 18;74(20):1619-26. doi: 10.1212/WNL.0b013e3181df099f.

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