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

Year Number of Results
2002 14
2003 2
2004 5
2005 7
2006 6
2007 5
2008 7
2009 6
2010 12
2011 8
2012 10
2013 11
2014 5
2015 9
2016 11
2017 16
2018 7
2019 8
2020 12
2021 7
2022 7
2023 6
2024 3

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160 results

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Page 1
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria.
Gurung S, Timmermand OV, Perocheau D, Gil-Martinez AL, Minnion M, Touramanidou L, Fang S, Messina M, Khalil Y, Spiewak J, Barber AR, Edwards RS, Pinto PL, Finn PF, Cavedon A, Siddiqui S, Rice L, Martini PGV, Ridout D, Heywood W, Hargreaves I, Heales S, Mills PB, Waddington SN, Gissen P, Eaton S, Ryten M, Feelisch M, Frassetto A, Witney TH, Baruteau J. Gurung S, et al. Among authors: heales s. Sci Transl Med. 2024 Jan 10;16(729):eadh1334. doi: 10.1126/scitranslmed.adh1334. Epub 2024 Jan 10. Sci Transl Med. 2024. PMID: 38198573 Free PMC article.
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.
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.
Gurung S, Karamched S, Perocheau D, Seunarine KK, Baldwin T, Alrashidi H, Touramanidou L, Duff C, Elkhateeb N, Stepien KM, Sharma R, Morris A, Hartley T, Crowther L, Grunewald S, Cleary M, Mundy H, Chakrapani A, Batzios S, Davison J, Footitt E, Tuschl K, Lachmann R, Murphy E, Santra S, Uudelepp ML, Yeo M, Finn PF, Cavedon A, Siddiqui S, Rice L, Martini PGV, Frassetto A, Heales S, Mills PB, Gissen P, Clayden JD, Clark CA, Eaton S, Kalber TL, Baruteau J. Gurung S, et al. Among authors: heales s. J Inherit Metab Dis. 2023 Dec 4. doi: 10.1002/jimd.12691. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 38044746
Classic ketogenic diet versus further antiseizure medicine in infants with drug-resistant epilepsy (KIWE): a UK, multicentre, open-label, randomised clinical trial.
Schoeler NE, Marston L, Lyons L, Halsall S, Jain R, Titre-Johnson S, Balogun M, Heales SJR, Eaton S, Orford M, Neal E, Reilly C, Eltze C, Stephen E, Mallick AA, O'Callaghan F, Agrawal S, Parker A, Kirkpatrick M, Brunklaus A, McLellan A, McCullagh H, Samanta R, Kneen R, Tan HJ, Devlin A, Prasad M, Rattihalli R, Basu H, Desurkar A, Williams R, Fallon P, Nazareth I, Freemantle N, Cross JH; KIWE study group. Schoeler NE, et al. Among authors: heales sjr. Lancet Neurol. 2023 Dec;22(12):1113-1124. doi: 10.1016/S1474-4422(23)00370-8. Lancet Neurol. 2023. PMID: 37977712 Free article. Clinical Trial.
GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.
Knöpfel N, Zecchin D, Richardson H, Polubothu S, Barberan-Martin S, Cullup T, Gholam K, Heales S, Krywawych S, López-Balboa P, Muwanga-Nanyonjo N, Ogunbiyi O, Puvirajasinghe C, Solman L, Swarbrick K, Syed SB, Tahir Z, Tisdall MM, Allgrove J, Chesover AD, Aylett SE, Jacques TS, Hannan FM, Löbel U, Semple RK, Thakker RV, Kinsler VA. Knöpfel N, et al. Among authors: heales s. J Invest Dermatol. 2024 Apr;144(4):820-832.e9. doi: 10.1016/j.jid.2023.09.008. Epub 2023 Oct 4. J Invest Dermatol. 2024. PMID: 37802294 Free article.
Reply to Maase et al. Comment on "Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8, 20".
Jones SA, Cheillan D, Chakrapani A, Church HJ, Heales S, Wu THY, Morton G, Roberts P, Sluys EF, Burlina A. Jones SA, et al. Among authors: heales s. Int J Neonatal Screen. 2023 Feb 16;9(1):8. doi: 10.3390/ijns9010008. Int J Neonatal Screen. 2023. PMID: 36810320 Free PMC article.
Advances in methods to analyse cardiolipin and their clinical applications.
Bautista JS, Falabella M, Flannery PJ, Hanna MG, Heales SJR, Pope SAS, Pitceathly RDS. Bautista JS, et al. Among authors: heales sjr. Trends Analyt Chem. 2022 Dec;157:116808. doi: 10.1016/j.trac.2022.116808. Trends Analyt Chem. 2022. PMID: 36751553 Free PMC article.
Protein aggregation and calcium dysregulation are hallmarks of familial Parkinson's disease in midbrain dopaminergic neurons.
Virdi GS, Choi ML, Evans JR, Yao Z, Athauda D, Strohbuecker S, Nirujogi RS, Wernick AI, Pelegrina-Hidalgo N, Leighton C, Saleeb RS, Kopach O, Alrashidi H, Melandri D, Perez-Lloret J, Angelova PR, Sylantyev S, Eaton S, Heales S, Rusakov DA, Alessi DR, Kunath T, Horrocks MH, Abramov AY, Patani R, Gandhi S. Virdi GS, et al. Among authors: heales s. NPJ Parkinsons Dis. 2022 Nov 24;8(1):162. doi: 10.1038/s41531-022-00423-7. NPJ Parkinsons Dis. 2022. PMID: 36424392 Free PMC article.
Operation Moonshot: rapid translation of a SARS-CoV-2 targeted peptide immunoaffinity liquid chromatography-tandem mass spectrometry test from research into routine clinical use.
Hällqvist J, Lane D, Shapanis A, Davis K, Heywood WE, Doykov I, Śpiewak J, Ghansah N, Keevil B, Gupta P, Jukes-Jones R, Singh R, Foley D, Vissers JPC, Pattison R, Ferries S, Wardle R, Bartlett A, Calton LJ, Anderson L, Razavi M, Pearson T, Pope M, Yip R, Ng LL, Nicholas BI, Bailey A, Noel D, Dalton RN, Heales S, Hopley C, Pitt AR, Barran P, Jones DJL, Mills K, Skipp P, Carling RS. Hällqvist J, et al. Among authors: heales s. Clin Chem Lab Med. 2022 Nov 17;61(2):302-310. doi: 10.1515/cclm-2022-1000. Print 2023 Jan 27. Clin Chem Lab Med. 2022. PMID: 36395058 Free article.
160 results