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Page 1
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: mccullagh h. 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.
The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.
Qebibo L, Davakan A, Nesson-Dauphin M, Boulali N, Siquier-Pernet K, Afenjar A, Amiel J, Bartholdi D, Barth M, Blondiaux E, Cristian I, Frazier Z, Goldenberg A, Good JM, Salussolia CL, Sahin M, McCullagh H, McDonald K, McRae A, Morrison J, Pinner J, Shinawi M, Toutain A, Vyhnálková E, Wheeler PG, Wilnai Y, Hausman-Kedem M, Coolen M, Cantagrel V, Burglen L, Lory P. Qebibo L, et al. Among authors: mccullagh h. Genet Med. 2025 Mar;27(3):101337. doi: 10.1016/j.gim.2024.101337. Epub 2024 Dec 20. Genet Med. 2025. PMID: 39674904 Free article.
Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease.
Fassad MR, Valenzuela S, Oláhová M, Collier JJ, Knowles CVY, Mavraki E, Elbracht M, Güzel N, Herberhold T, Kurth I, Maier A, Mattern L, Saunders C, McCullagh H, Õunap K, Wortmann SB, Reis A, Zhang L, Gustafsson CM, McFarland R, Taylor RW. Fassad MR, et al. Among authors: mccullagh h. Clin Genet. 2026 Jan;109(1):167-175. doi: 10.1111/cge.70011. Epub 2025 Jun 29. Clin Genet. 2026. PMID: 40583167 Free PMC article.
Efficacy and safety of ketogenic diet in infants with epilepsy: KIWE RCT.
Schoeler NE, Marston L, Lyons L, Halsall S, Jain R, Titre-Johnson S, Balogun M, Heales SJR, Eaton S, Orford M, Neal E, 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, Jeen Tan H, Devlin A, Prasad M, Rattihalli R, Basu H, Desurkar A, Williams R, Fallon P, Nazareth I, Freemantle N, Cross JH. Schoeler NE, et al. Among authors: mccullagh h. Southampton (UK): National Institute for Health and Care Research; 2024 Oct. Southampton (UK): National Institute for Health and Care Research; 2024 Oct. PMID: 39413219 Free Books & Documents. Review.
Clinical features, course, and outcomes of a UK cohort of pediatric moyamoya.
Tho-Calvi SC, Thompson D, Saunders D, Agrawal S, Basu A, Chitre M, Chow G, Gibbon F, Hart A, Tallur KK, Kirkham F, Kneen R, McCullagh H, Mewasingh L, Vassallo G, Vijayakumar K, Wraige E, Yeo TH, Ganesan V; British Paediatric Neurology Association Moyamoya Study group. Tho-Calvi SC, et al. Among authors: mccullagh h. Neurology. 2018 Feb 27;90(9):e763-e770. doi: 10.1212/WNL.0000000000005026. Neurology. 2018. PMID: 29483323
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.
Keshavan N, Abdenur J, Anderson G, Assouline Z, Barcia G, Bouhikbar L, Chakrapani A, Cleary M, Cohen MC, Feillet F, Fratter C, Hauser N, Jacques T, Lam A, McCullagh H, Phadke R, Rötig A, Sharrard M, Simon M, Smith C, Sommerville EW, Taylor RW, Yue WW, Rahman S. Keshavan N, et al. Among authors: mccullagh h. Genet Med. 2020 Jan;22(1):199-209. doi: 10.1038/s41436-019-0613-z. Epub 2019 Aug 29. Genet Med. 2020. PMID: 31462754 Free article.
Neurological manifestations of SARS-CoV-2 infection in hospitalised children and adolescents in the UK: a prospective national cohort study.
Ray STJ, Abdel-Mannan O, Sa M, Fuller C, Wood GK, Pysden K, Yoong M, McCullagh H, Scott D, McMahon M, Thomas N, Taylor M, Illingworth M, McCrea N, Davies V, Whitehouse W, Zuberi S, Guthrie K, Wassmer E, Shah N, Baker MR, Tiwary S, Tan HJ, Varma U, Ram D, Avula S, Enright N, Hassell J, Ross Russell AL, Kumar R, Mulholland RE, Pett S, Galea I, Thomas RH, Lim M, Hacohen Y, Solomon T, Griffiths MJ, Michael BD, Kneen R; CoroNerve study group. Ray STJ, et al. Among authors: mccullagh h. Lancet Child Adolesc Health. 2021 Sep;5(9):631-641. doi: 10.1016/S2352-4642(21)00193-0. Epub 2021 Jul 15. Lancet Child Adolesc Health. 2021. PMID: 34273304 Free PMC article.
17 results