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Page 1
Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.
Papandreou A, Rahman S, Fratter C, Ng J, Meyer E, Carr LJ, Champion M, Clarke A, Gissen P, Hemingway C, Hussain N, Jayawant S, King MD, Lynch BJ, Mewasingh L, Patel J, Prabhakar P, Neergheen V, Pope S, Heales SJR, Poulton J, Kurian MA. Papandreou A, et al. Among authors: jayawant s. J Inherit Metab Dis. 2018 Nov;41(6):1299-1301. doi: 10.1007/s10545-018-0247-3. J Inherit Metab Dis. 2018. PMID: 30456588 Free PMC article.
Infantile neuroaxonal dystrophy caused by uniparental disomy.
Solomons J, Ridgway O, Hardy C, Kurian MA, Jayawant S, Hughes S, Pretorius P, Németh AH. Solomons J, et al. Among authors: jayawant s. Dev Med Child Neurol. 2014 Apr;56(4):386-9. doi: 10.1111/dmcn.12327. Epub 2013 Nov 15. Dev Med Child Neurol. 2014. PMID: 24628589 Free article.
The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.
Dombi E, Diot A, Morten K, Carver J, Lodge T, Fratter C, Ng YS, Liao C, Muir R, Blakely EL, Hargreaves I, Al-Dosary M, Sarkar G, Hickman SJ, Downes SM, Jayawant S, Yu-Wai-Man P, Taylor RW, Poulton J. Dombi E, et al. Among authors: jayawant s. Neurology. 2016 May 17;86(20):1921-3. doi: 10.1212/WNL.0000000000002688. Epub 2016 Apr 22. Neurology. 2016. PMID: 27164671 Free PMC article. No abstract available.
Retrospective natural history of thymidine kinase 2 deficiency.
Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M. Garone C, et al. Among authors: jayawant s. J Med Genet. 2018 Aug;55(8):515-521. doi: 10.1136/jmedgenet-2017-105012. Epub 2018 Mar 30. J Med Genet. 2018. PMID: 29602790 Free PMC article.
Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.
Papandreou A, Rahman S, Fratter C, Ng J, Meyer E, Carr LJ, Champion M, Clarke A, Gissen P, Hemingway C, Hussain N, Jayawant S, King MD, Lynch BJ, Mewasingh L, Patel J, Prabhakar P, Neergheen V, Pope S, Heales SJR, Poulton J, Kurian MA. Papandreou A, et al. Among authors: jayawant s. J Inherit Metab Dis. 2018 Nov;41(6):1275-1283. doi: 10.1007/s10545-018-0227-7. Epub 2018 Aug 30. J Inherit Metab Dis. 2018. PMID: 30167885 Free PMC article.
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Ng J, Cortès-Saladelafont E, Abela L, Termsarasab P, Mankad K, Sudhakar S, Gorman KM, Heales SJR, Pope S, Biassoni L, Csányi B, Cain J, Rakshi K, Coutts H, Jayawant S, Jefferson R, Hughes D, García-Cazorla À, Grozeva D, Raymond FL, Pérez-Dueñas B, De Goede C, Pearson TS, Meyer E, Kurian MA. Ng J, et al. Among authors: jayawant s. Mov Disord. 2020 Aug;35(8):1357-1368. doi: 10.1002/mds.28063. Epub 2020 May 30. Mov Disord. 2020. PMID: 32472658 Free PMC article.
Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants.
Steel DBD, Danti FR, Abunada M, Kamien B, Malhotra S, Topf M, Kaliakatsos M, Valentine J, Nemeth AH, Jayawant S, Reid KM, Mankad K, Sudhakar S, Ben-Pazi H, Barwick K, Kurian MA. Steel DBD, et al. Among authors: jayawant s. Neurology. 2023 May 23;100(21):e2214-e2223. doi: 10.1212/WNL.0000000000207241. Epub 2023 Apr 11. Neurology. 2023. PMID: 37041080 Free PMC article.
Liver mtDNA content increases during development: a comparison of methods and the importance of age- and tissue-specific controls for the diagnosis of mtDNA depletion.
Morten KJ, Ashley N, Wijburg F, Hadzic N, Parr J, Jayawant S, Adams S, Bindoff L, Bakker HD, Mieli-Vergani G, Zeviani M, Poulton J. Morten KJ, et al. Among authors: jayawant s. Mitochondrion. 2007 Dec;7(6):386-95. doi: 10.1016/j.mito.2007.09.001. Epub 2007 Sep 21. Mitochondrion. 2007. PMID: 17981517
81 results