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51 results

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The utility of Multicentre Epilepsy Lesion Detection (MELD) algorithm in identifying epileptic activity and predicting seizure freedom in MRI lesion-negative paediatric patients.
Goel A, Seri S, Agrawal S, Kumar R, Sudarsanam A, Carr B, Lawley A, Macpherson L, Oates AJ, Williams H, Walsh AR, Lo WB, Pepper J. Goel A, et al. Among authors: sudarsanam a. Epilepsy Res. 2024 Oct;206:107429. doi: 10.1016/j.eplepsyres.2024.107429. Epub 2024 Aug 6. Epilepsy Res. 2024. PMID: 39151325
Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia.
Nóbrega PR, R B de Paiva A, Souza KS, de Souza JLB, G S B Lima PL, da Silva DJ, Pitombeira MS, Borges VK, Dias DA, Bispo LM, Santos CF, Freua F, Silva PDS, Alves IS, Portella LB, Cunha PR, Salomao RPA, Pedroso JL, Miyajima VP, Miyajima F, Cali E, Wade C, Sudarsanam A, O'Driscoll M, Hayton T, Barsottini OGP, Klebe S, Kok F, Lucato LT, Houlden H, Depienne C, Lynch DS, Braga-Neto P. Nóbrega PR, et al. Among authors: sudarsanam a. Brain Commun. 2023 Oct 17;6(1):fcad273. doi: 10.1093/braincomms/fcad273. eCollection 2024. Brain Commun. 2023. PMID: 38173802 Free PMC article.
Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition.
Burleigh A, Moraitis E, Al Masroori E, Al-Abadi E, Hong Y, Omoyinmi E, Titheradge H, Stals K, Jones WD, Gait A, Jayarajan V, Di WL, Sebire N, Solman L, Ogboli M, Welch SB, Sudarsanam A, Wacogne I, Price-Kuehne F, Jensen B, Brogan PA, Eleftheriou D. Burleigh A, et al. Among authors: sudarsanam a. Front Immunol. 2023 Dec 5;14:1287258. doi: 10.3389/fimmu.2023.1287258. eCollection 2023. Front Immunol. 2023. PMID: 38115997 Free PMC article.
Outcomes Following Vascular and Endovascular Procedures Performed During the First COVID-19 Pandemic Wave.
Birmpili P, Benson RA, Gwilym B, Nandhra S, Al-Saadi N, Ambler GK, Blair R, Bosanquet D, Dattani N, Hitchman L, Hurndall K, Machin M, Onida S, Saratzis A, Shalhoub J, Shelmerdine L, Singh AA; COVER Study Collaborative. Birmpili P, et al. EJVES Vasc Forum. 2024 Sep 19;62:64-71. doi: 10.1016/j.ejvsvf.2024.08.002. eCollection 2024. EJVES Vasc Forum. 2024. PMID: 39386357 Free PMC article.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Kaiyrzhanov R, Mohammed SEM, Maroofian R, Husain RA, Catania A, Torraco A, Alahmad A, Dutra-Clarke M, Grønborg S, Sudarsanam A, Vogt J, Arrigoni F, Baptista J, Haider S, Feichtinger RG, Bernardi P, Zulian A, Gusic M, Efthymiou S, Bai R, Bibi F, Horga A, Martinez-Agosto JA, Lam A, Manole A, Rodriguez DP, Durigon R, Pyle A, Albash B, Dionisi-Vici C, Murphy D, Martinelli D, Bugiardini E, Allis K, Lamperti C, Reipert S, Risom L, Laugwitz L, Di Nottia M, McFarland R, Vilarinho L, Hanna M, Prokisch H, Mayr JA, Bertini ES, Ghezzi D, Østergaard E, Wortmann SB, Carrozzo R, Haack TB, Taylor RW, Spinazzola A, Nowikovsky K, Houlden H. Kaiyrzhanov R, et al. Among authors: sudarsanam a. Am J Hum Genet. 2022 Sep 1;109(9):1692-1712. doi: 10.1016/j.ajhg.2022.07.007. Am J Hum Genet. 2022. PMID: 36055214 Free PMC article.
51 results