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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 9
2003 1
2004 3
2005 5
2006 5
2007 3
2008 3
2009 6
2010 9
2011 4
2012 6
2013 9
2014 5
2015 2
2016 3
2017 5
2018 1
2019 1
2020 2
2023 1
2024 0

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69 results

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Page 1
A pilot study of alternative substrates in the critically Ill subject using a ketogenic feed.
McNelly A, Langan A, Bear DE, Page A, Martin T, Seidu F, Santos F, Rooney K, Liang K, Heales SJ, Baldwin T, Alldritt I, Crossland H, Atherton PJ, Wilkinson D, Montgomery H, Prowle J, Pearse R, Eaton S, Puthucheary ZA. McNelly A, et al. Among authors: heales sj. Nat Commun. 2023 Dec 15;14(1):8345. doi: 10.1038/s41467-023-42659-8. Nat Commun. 2023. PMID: 38102152 Free PMC article. Clinical Trial.
Expression of mutant exon 1 huntingtin fragments in human neural stem cells and neurons causes inclusion formation and mitochondrial dysfunction.
Ghosh R, Wood-Kaczmar A, Dobson L, Smith EJ, Sirinathsinghji EC, Kriston-Vizi J, Hargreaves IP, Heaton R, Herrmann F, Abramov AY, Lam AJ, Heales SJ, Ketteler R, Bates GP, Andre R, Tabrizi SJ. Ghosh R, et al. Among authors: heales sj. FASEB J. 2020 Jun;34(6):8139-8154. doi: 10.1096/fj.201902277RR. Epub 2020 Apr 23. FASEB J. 2020. PMID: 32329133 Free PMC article.
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
Wortmann SB, Meunier B, Mestek-Boukhibar L, van den Broek F, Maldonado EM, Clement E, Weghuber D, Spenger J, Jaros Z, Taha F, Yue WW, Heales SJ, Davison JE, Mayr JA, Rahman S. Wortmann SB, et al. Among authors: heales sj. Am J Hum Genet. 2020 Feb 6;106(2):256-263. doi: 10.1016/j.ajhg.2020.01.005. Epub 2020 Jan 30. Am J Hum Genet. 2020. PMID: 32004446 Free PMC article.
Integrated Approach Reveals Role of Mitochondrial Germ-Line Mutation F18L in Respiratory Chain, Oxidative Alterations, Drug Sensitivity, and Patient Prognosis in Glioblastoma.
Keatley K, Stromei-Cleroux S, Wiltshire T, Rajala N, Burton G, Holt WV, Littlewood DTJ, Briscoe AG, Jung J, Ashkan K, Heales SJ, Pilkington GJ, Meunier B, McGeehan JE, Hargreaves IP, McGeehan RE. Keatley K, et al. Among authors: heales sj. Int J Mol Sci. 2019 Jul 9;20(13):3364. doi: 10.3390/ijms20133364. Int J Mol Sci. 2019. PMID: 31323957 Free PMC article.
Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC.
Batllori M, Molero-Luis M, Ormazabal A, Casado M, Sierra C, García-Cazorla A, Kurian M, Pope S, Heales SJ, Artuch R. Batllori M, et al. Among authors: heales sj. Nat Protoc. 2017 Nov;12(11):2359-2375. doi: 10.1038/nprot.2017.103. Epub 2017 Oct 19. Nat Protoc. 2017. PMID: 29048424
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Desai R, Frazier AE, Durigon R, Patel H, Jones AW, Dalla Rosa I, Lake NJ, Compton AG, Mountford HS, Tucker EJ, Mitchell ALR, Jackson D, Sesay A, Di Re M, van den Heuvel LP, Burke D, Francis D, Lunke S, McGillivray G, Mandelstam S, Mochel F, Keren B, Jardel C, Turner AM, Ian Andrews P, Smeitink J, Spelbrink JN, Heales SJ, Kohda M, Ohtake A, Murayama K, Okazaki Y, Lombès A, Holt IJ, Thorburn DR, Spinazzola A. Desai R, et al. Among authors: heales sj. Brain. 2017 Jun 1;140(6):1595-1610. doi: 10.1093/brain/awx094. Brain. 2017. PMID: 28549128 Free PMC article.
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium; Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA. Meyer E, et al. Nat Genet. 2017 Feb;49(2):223-237. doi: 10.1038/ng.3740. Epub 2016 Dec 19. Nat Genet. 2017. PMID: 27992417
Drug-Induced Mitochondrial Toxicity.
Hargreaves IP, Al Shahrani M, Wainwright L, Heales SJ. Hargreaves IP, et al. Drug Saf. 2016 Jul;39(7):661-74. doi: 10.1007/s40264-016-0417-x. Drug Saf. 2016. PMID: 26992920 Review.
69 results