Compton AG - Search Results

1

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.

Rius R, Van Bergen NJ, Compton AG, Riley LG, Kava MP, Balasubramaniam S, Amor DJ, Fanjul-Fernandez M, Cowley MJ, Fahey MC, Koenig MK, Enns GM, Sadedin S, Wilson MJ, Tan TY, Thorburn DR, Christodoulou J. Rius R, et al. Among authors: compton ag. J Clin Med. 2019 Nov 19;8(11):2020. doi: 10.3390/jcm8112020. J Clin Med. 2019. PMID: 31752325 Free PMC article.

2

Recent advances in the genetics of mitochondrial encephalopathies.

Tucker EJ, Compton AG, Thorburn DR. Tucker EJ, et al. Among authors: compton ag. Curr Neurol Neurosci Rep. 2010 Jul;10(4):277-85. doi: 10.1007/s11910-010-0112-8. Curr Neurol Neurosci Rep. 2010. PMID: 20446063 Review.

3

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.

Riley LG, Cooper S, Hickey P, Rudinger-Thirion J, McKenzie M, Compton A, Lim SC, Thorburn D, Ryan MT, Giegé R, Bahlo M, Christodoulou J. Riley LG, et al. Am J Hum Genet. 2010 Jul 9;87(1):52-9. doi: 10.1016/j.ajhg.2010.06.001. Am J Hum Genet. 2010. PMID: 20598274 Free PMC article.

4

Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome.

Compton AG, Troedson C, Wilson M, Procopis PG, Li FY, Brundage EK, Yamazaki T, Thorburn DR, Wong LJ. Compton AG, et al. Mitochondrion. 2011 Jan;11(1):104-7. doi: 10.1016/j.mito.2010.07.012. Epub 2010 Aug 12. Mitochondrion. 2011. PMID: 20708716

5

The molecular basis of human complex I deficiency.

Tucker EJ, Compton AG, Calvo SE, Thorburn DR. Tucker EJ, et al. Among authors: compton ag. IUBMB Life. 2011 Sep;63(9):669-77. doi: 10.1002/iub.495. Epub 2011 Jul 15. IUBMB Life. 2011. PMID: 21766414 Free article. Review.

6

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.

Tucker EJ, Hershman SG, Köhrer C, Belcher-Timme CA, Patel J, Goldberger OA, Christodoulou J, Silberstein JM, McKenzie M, Ryan MT, Compton AG, Jaffe JD, Carr SA, Calvo SE, RajBhandary UL, Thorburn DR, Mootha VK. Tucker EJ, et al. Among authors: compton ag. Cell Metab. 2011 Sep 7;14(3):428-34. doi: 10.1016/j.cmet.2011.07.010. Cell Metab. 2011. PMID: 21907147 Free PMC article.

7

Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1.

McKenzie M, Tucker EJ, Compton AG, Lazarou M, George C, Thorburn DR, Ryan MT. McKenzie M, et al. Among authors: compton ag. J Mol Biol. 2011 Dec 2;414(3):413-26. doi: 10.1016/j.jmb.2011.10.012. Epub 2011 Oct 14. J Mol Biol. 2011. PMID: 22019594

8

Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.

Tucker EJ, Mimaki M, Compton AG, McKenzie M, Ryan MT, Thorburn DR. Tucker EJ, et al. Among authors: compton ag. Hum Mutat. 2012 Feb;33(2):411-8. doi: 10.1002/humu.21654. Epub 2011 Dec 22. Hum Mutat. 2012. PMID: 22072591

9

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, Laskowski A, Garone C, Liu S, Jaffe DB, Christodoulou J, Fletcher JM, Bruno DL, Goldblatt J, Dimauro S, Thorburn DR, Mootha VK. Calvo SE, et al. Among authors: compton ag. Sci Transl Med. 2012 Jan 25;4(118):118ra10. doi: 10.1126/scitranslmed.3003310. Sci Transl Med. 2012. PMID: 22277967 Free PMC article.

10

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.

Lim SC, Friemel M, Marum JE, Tucker EJ, Bruno DL, Riley LG, Christodoulou J, Kirk EP, Boneh A, DeGennaro CM, Springer M, Mootha VK, Rouault TA, Leimkühler S, Thorburn DR, Compton AG. Lim SC, et al. Among authors: compton ag. Hum Mol Genet. 2013 Nov 15;22(22):4460-73. doi: 10.1093/hmg/ddt295. Epub 2013 Jun 28. Hum Mol Genet. 2013. PMID: 23814038 Free PMC article.

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