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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.
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. 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. J Inherit Metab Dis. 2023 Dec 4. doi: 10.1002/jimd.12691. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 38044746
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.
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. 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 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. 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.
K.Vita: a feasibility study of a blend of medium chain triglycerides to manage drug-resistant epilepsy.
Schoeler NE, Orford M, Vivekananda U, Simpson Z, Van de Bor B, Smith H, Balestrini S, Rutherford T, Brennan E, McKenna J, Lambert B, Barker T, Jackson R, Williams RSB, Sisodiya SM, Eaton S, Heales SJR, Cross JH, Walker MC; K.Vita Study Group. Schoeler NE, et al. Among authors: heales sjr. Brain Commun. 2021 Jul 23;3(4):fcab160. doi: 10.1093/braincomms/fcab160. eCollection 2021. Brain Commun. 2021. PMID: 34729477 Free PMC article.
Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism.
Ng J, Barral S, De La Fuente Barrigon C, Lignani G, Erdem FA, Wallings R, Privolizzi R, Rossignoli G, Alrashidi H, Heasman S, Meyer E, Ngoh A, Pope S, Karda R, Perocheau D, Baruteau J, Suff N, Antinao Diaz J, Schorge S, Vowles J, Marshall LR, Cowley SA, Sucic S, Freissmuth M, Counsell JR, Wade-Martins R, Heales SJR, Rahim AA, Bencze M, Waddington SN, Kurian MA. Ng J, et al. Among authors: heales sjr. Sci Transl Med. 2021 May 19;13(594):eaaw1564. doi: 10.1126/scitranslmed.aaw1564. Sci Transl Med. 2021. PMID: 34011628 Free PMC article.
87 results