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

Year Number of Results
2008 1
2011 2
2012 5
2013 6
2014 5
2015 4
2016 7
2017 1
2018 3
2019 12
2020 13
2021 10
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61 results
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Page 1
Rhabdomyolysis: a genetic perspective.
Scalco RS, Gardiner AR, Pitceathly RD, Zanoteli E, Becker J, Holton JL, Houlden H, Jungbluth H, Quinlivan R. Scalco RS, et al. Among authors: pitceathly rd. Orphanet J Rare Dis. 2015 May 2;10:51. doi: 10.1186/s13023-015-0264-3. Orphanet J Rare Dis. 2015. PMID: 25929793 Free PMC article. Review.
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
Hathazi D, Griffin H, Jennings MJ, Giunta M, Powell C, Pearce SF, Munro B, Wei W, Boczonadi V, Poulton J, Pyle A, Calabrese C, Gomez-Duran A, Schara U, Pitceathly RDS, Hanna MG, Joost K, Cotta A, Paim JF, Navarro MM, Duff J, Mattman A, Chapman K, Servidei S, Della Marina A, Uusimaa J, Roos A, Mootha V, Hirano M, Tulinius M, Giri M, Hoffmann EP, Lochmüller H, DiMauro S, Minczuk M, Chinnery PF, Müller JS, Horvath R. Hathazi D, et al. Among authors: pitceathly rds. EMBO J. 2020 Dec 1;39(23):e105364. doi: 10.15252/embj.2020105364. Epub 2020 Oct 31. EMBO J. 2020. PMID: 33128823 Free PMC article.
CSF lactate.
Baheerathan A, Pitceathly RD, Curtis C, Davies NW. Baheerathan A, et al. Among authors: pitceathly rd. Pract Neurol. 2020 Aug;20(4):320-323. doi: 10.1136/practneurol-2019-002191. Epub 2020 May 13. Pract Neurol. 2020. PMID: 32404406 Review.
Moving towards clinical trials for mitochondrial diseases.
Pitceathly RDS, Keshavan N, Rahman J, Rahman S. Pitceathly RDS, et al. J Inherit Metab Dis. 2021 Jan;44(1):22-41. doi: 10.1002/jimd.12281. Epub 2020 Sep 2. J Inherit Metab Dis. 2021. PMID: 32618366 Review.
Chronic pain is common in mitochondrial disease.
van den Ameele J, Fuge J, Pitceathly RDS, Berry S, McIntyre Z, Hanna MG, Lee M, Chinnery PF. van den Ameele J, et al. Among authors: pitceathly rds. Neuromuscul Disord. 2020 May;30(5):413-419. doi: 10.1016/j.nmd.2020.02.017. Epub 2020 Feb 29. Neuromuscul Disord. 2020. PMID: 32334903 Free PMC article.
Primary mitochondrial diseases increase susceptibility to bipolar affective disorder.
Colasanti A, Bugiardini E, Amawi S, Poole OV, Skorupinska I, Skorupinska M, Germain L, Kozyra D, Holmes S, James N, Woodward CE, Quinlivan R, Young AH, Hanna MG, Pitceathly RDS. Colasanti A, et al. Among authors: pitceathly rds. J Neurol Neurosurg Psychiatry. 2020 Aug;91(8):892-894. doi: 10.1136/jnnp-2020-323632. Epub 2020 Jun 11. J Neurol Neurosurg Psychiatry. 2020. PMID: 32527838 No abstract available.
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations.
Bugiardini E, Bottani E, Marchet S, Poole OV, Beninca C, Horga A, Woodward C, Lam A, Hargreaves I, Chalasani A, Valerio A, Lamantea E, Venner K, Holton JL, Zeviani M, Houlden H, Quinlivan R, Lamperti C, Hanna MG, Pitceathly RDS. Bugiardini E, et al. Among authors: pitceathly rds. Neurol Genet. 2020 Jan 7;6(1):e381. doi: 10.1212/NXG.0000000000000381. eCollection 2020 Feb. Neurol Genet. 2020. PMID: 32042910 Free PMC article.
Comment on "A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome".
Bindoff LA, Brown DA, Gorman GS, Karaa A, Keshavan N, Lamperti C, Mancuso M, McFarland R, Ng YS, O'Callaghan M, Pitceathly RDS, Rahman S, Russel FGM, Schirris TJJ, Varhaug KN, De Vries MC. Bindoff LA, et al. Among authors: pitceathly rds. J Inherit Metab Dis. 2021 Jan;44(1):6-7. doi: 10.1002/jimd.12329. Epub 2020 Nov 18. J Inherit Metab Dis. 2021. PMID: 33159463 No abstract available.
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