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Page 1
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
Dallabona C, Abbink TE, Carrozzo R, Torraco A, Legati A, van Berkel CG, Niceta M, Langella T, Verrigni D, Rizza T, Diodato D, Piemonte F, Lamantea E, Fang M, Zhang J, Martinelli D, Bevivino E, Dionisi-Vici C, Vanderver A, Philip SG, Kurian MA, Verma IC, Bijarnia-Mahay S, Jacinto S, Furtado F, Accorsi P, Ardissone A, Moroni I, Ferrero I, Tartaglia M, Goffrini P, Ghezzi D, van der Knaap MS, Bertini E. Dallabona C, et al. Among authors: philip sg. Brain. 2016 Mar;139(Pt 3):782-94. doi: 10.1093/brain/awv392. Epub 2016 Jan 29. Brain. 2016. PMID: 26912632 Free article.
The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy.
Brunklaus A, Dorris L, Ellis R, Reavey E, Lee E, Forbes G, Appleton R, Cross JH, Ferrie C, Hughes I, Jollands A, King MD, Livingston J, Lynch B, Philip S, Scheffer IE, Williams R, Zuberi SM. Brunklaus A, et al. Dev Med Child Neurol. 2013 Feb;55(2):154-161. doi: 10.1111/dmcn.12030. Epub 2012 Nov 20. Dev Med Child Neurol. 2013. PMID: 23163885 Free article.
Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial.
Knight EMP, Amin S, Bahi-Buisson N, Benke TA, Cross JH, Demarest ST, Olson HE, Specchio N, Fleming TR, Aimetti AA, Gasior M, Devinsky O; Marigold Trial Group. Knight EMP, et al. Lancet Neurol. 2022 May;21(5):417-427. doi: 10.1016/S1474-4422(22)00077-1. Lancet Neurol. 2022. PMID: 35429480 Clinical Trial.
Utility and safety of plasma exchange in paediatric neuroimmune disorders.
Eyre M, Hacohen Y, Lamb K, Absoud M, Agrawal S, Gadian J, Gupta R, Kneen R, Milford DV, Philip S, Rose K, Smith M, Spinty S, Wassmer E, Lim M, Hemingway C. Eyre M, et al. Dev Med Child Neurol. 2019 May;61(5):540-546. doi: 10.1111/dmcn.14150. Epub 2019 Jan 18. Dev Med Child Neurol. 2019. PMID: 30659589 Free article.
Long-term cognitive outcomes in tuberous sclerosis complex.
Tye C, Mcewen FS, Liang H, Underwood L, Woodhouse E, Barker ED, Sheerin F, Yates JRW, Bolton PF; Tuberous Sclerosis 2000 Study Group. Tye C, et al. Dev Med Child Neurol. 2020 Mar;62(3):322-329. doi: 10.1111/dmcn.14356. Epub 2019 Sep 19. Dev Med Child Neurol. 2020. PMID: 31538337 Free PMC article.
30 results