Compton AG[au] - Search Results

Year	Number of Results
2003	1
2004	1
2005	1
2007	2
2008	4
2010	3
2011	6
2012	2
2013	3
2014	4
2015	3
2016	2
2017	3
2018	2
2019	5
2020	5
2021	4
2022	4
2023	4

1

Leigh syndrome: One disorder, more than 75 monogenic causes.

Lake NJ, Compton AG, Rahman S, Thorburn DR. Lake NJ, et al. Among authors: compton ag. Ann Neurol. 2016 Feb;79(2):190-203. doi: 10.1002/ana.24551. Epub 2015 Dec 15. Ann Neurol. 2016. PMID: 26506407 Free article. Review.

2

Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology.

Frazier AE, Thorburn DR, Compton AG. Frazier AE, et al. Among authors: compton ag. J Biol Chem. 2019 Apr 5;294(14):5386-5395. doi: 10.1074/jbc.R117.809194. Epub 2017 Dec 12. J Biol Chem. 2019. PMID: 29233888 Free PMC article. Review.

3

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.

4

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.

5

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.

Rius R, Compton AG, Baker NL, Welch AE, Coman D, Kava MP, Minoche AE, Cowley MJ, Thorburn DR, Christodoulou J. Rius R, et al. Among authors: compton ag. Genes (Basel). 2021 Apr 20;12(4):607. doi: 10.3390/genes12040607. Genes (Basel). 2021. PMID: 33924034 Free PMC article.

6

Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.

Rius R, Bennett NK, Bhattacharya K, Riley LG, Yüksel Z, Formosa LE, Compton AG, Dale RC, Cowley MJ, Gayevskiy V, Al Tala SM, Almehery AA, Ryan MT, Thorburn DR, Nakamura K, Christodoulou J. Rius R, et al. Among authors: compton ag. Hum Mutat. 2022 Dec;43(12):1970-1978. doi: 10.1002/humu.24453. Epub 2022 Sep 7. Hum Mutat. 2022. PMID: 36030551

7

Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder.

Andzelm MM, Balasubramaniam S, Yang E, Compton AG, Millington K, Zhu J, Anselm I, Rodan LH, Thorburn DR, Christodoulou J, Srivastava S. Andzelm MM, et al. Among authors: compton ag. JIMD Rep. 2022 Aug 23;63(5):391-399. doi: 10.1002/jmd2.12303. eCollection 2022 Sep. JIMD Rep. 2022. PMID: 36101822 Free PMC article.

8

Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.

Mordaunt DA, Jolley A, Balasubramaniam S, Thorburn DR, Mountford HS, Compton AG, Nicholl J, Manton N, Clark D, Bratkovic D, Friend K, Yu S. Mordaunt DA, et al. Among authors: compton ag. Am J Med Genet A. 2015 Jun;167(6):1330-6. doi: 10.1002/ajmg.a.36968. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25899669 Review.

9

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.

10

Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies.

Akesson LS, Rius R, Brown NJ, Rosenbaum J, Donoghue S, Stormon M, Chai C, Bordador E, Guo Y, Hakonarson H, Compton AG, Thorburn DR, Amarasekera S, Marum J, Monaco A, Lee C, Chong B, Lunke S, Stark Z, Christodoulou J. Akesson LS, et al. Among authors: compton ag. JIMD Rep. 2022 Mar 15;63(3):240-249. doi: 10.1002/jmd2.12280. eCollection 2022 May. JIMD Rep. 2022. PMID: 35433172 Free PMC article.

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