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Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4.
Cooray S, Price-Kuehne F, Hong Y, Omoyinmi E, Burleigh A, Gilmour KC, Ahmad B, Choi S, Bahar MW, Torpiano P, Gagunashvili A, Jensen B, Bellos E, Sancho-Shimizu V, Herberg JA, Mankad K, Kumar A, Kaliakatsos M, Worth AJJ, Eleftheriou D, Whittaker E, Brogan PA. Cooray S, et al. Among authors: kaliakatsos m. Front Immunol. 2023 Sep 6;14:1231749. doi: 10.3389/fimmu.2023.1231749. eCollection 2023. Front Immunol. 2023. PMID: 37744344 Free PMC article.
Translating metagenomics into clinical practice for complex paediatric neurological presentations.
Penner J, Hassell J, Brown JR, Mankad K, Storey N, Atkinson L, Ranganathan N, Lennon A, Lee JCD, Champsas D, Kopec A, Shah D, Venturini C, Dixon G, De S, Hatcher J, Harris K, Aquilina K, Kusters MA, Moshal K, Shingadia D, Worth AJJ, Lucchini G, Merve A, Jacques TS, Bamford A, Kaliakatsos M, Breuer J, Morfopoulou S. Penner J, et al. Among authors: kaliakatsos m. J Infect. 2023 Nov;87(5):451-458. doi: 10.1016/j.jinf.2023.08.002. Epub 2023 Aug 7. J Infect. 2023. PMID: 37557958 No abstract available.
Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants.
Steel DBD, Danti FR, Abunada M, Kamien B, Malhotra S, Topf M, Kaliakatsos M, Valentine J, Nemeth AH, Jayawant S, Reid KM, Mankad K, Sudhakar S, Ben-Pazi H, Barwick K, Kurian MA. Steel DBD, et al. Among authors: kaliakatsos m. Neurology. 2023 May 23;100(21):e2214-e2223. doi: 10.1212/WNL.0000000000207241. Epub 2023 Apr 11. Neurology. 2023. PMID: 37041080 Free PMC article.
Novel antivirals for severe enterovirus infection in immunocompromised hosts; A case series.
Meinhardt A, Reilly L, Kaliakatsos M, Abdel-Aziz K, Alsharidah S, Bodi I, Booth C, Chetty K, Evans J, Ferreras-Antolín L, Froude S, Galtrey CM, Guruprasad S, Hadden RD, Hassell J, Hyöty H, Kreins AY, Laiho JE, Lowe DM, Lunn MP, Mankad K, Struik S, Whittaker E, Worth A, Yong P, Zhang L, Breuer J, Kadambari S. Meinhardt A, et al. Among authors: kaliakatsos m. J Infect. 2024 May;88(5):106142. doi: 10.1016/j.jinf.2024.106142. Epub 2024 Mar 26. J Infect. 2024. PMID: 38527653 Free article. No abstract available.
An embedded intracranial seizure monitor for objective outcome measurements and rhythm identification.
Fleming JE, Benjaber M, Toth R, Zamora M, Landin K, Kavoosi A, Ottoway J, Gillbe T, Piper RJ, Noone T, Campbell H, Gillbe I, Kaliakatsos M, Tisdall M, Valentin A, Denison T. Fleming JE, et al. Among authors: kaliakatsos m. Annu Int Conf IEEE Eng Med Biol Soc. 2023 Jul;2023:1-6. doi: 10.1109/EMBC40787.2023.10340850. Annu Int Conf IEEE Eng Med Biol Soc. 2023. PMID: 38083730 Free PMC article.
Case report: Novel treatment regimen for enterovirus encephalitis in SCID.
Chetty K, Cheng I, Kaliakatsos M, Gonzalez-Granado LI, Klapsa D, Martin J, Bamford A, Breuer J, Booth C. Chetty K, et al. Among authors: kaliakatsos m. Front Immunol. 2022 Sep 13;13:930031. doi: 10.3389/fimmu.2022.930031. eCollection 2022. Front Immunol. 2022. PMID: 36177038 Free PMC article.
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Ververi A, Zagaglia S, Menzies L, Baptista J, Caswell R, Baulac S, Ellard S, Lynch S; Genomics England Research Consortium; Jacques TS, Chawla MS, Heier M, Kulseth MA, Mero IL, Våtevik AK, Kraoua I, Ben Rhouma H, Ben Younes T, Miladi Z, Ben Youssef Turki I, Jones WD, Clement E, Eltze C, Mankad K, Merve A, Parker J, Hoskins B, Pressler R, Sudhakar S, DeVile C, Homfray T, Kaliakatsos M; Ponnudas (Prab) Prabhakar; Robinson R, Keim SMB, Habibi I, Reymond A, Sisodiya SM, Hurst JA. Ververi A, et al. Among authors: kaliakatsos m. Hum Mol Genet. 2023 Jan 27;32(4):580-594. doi: 10.1093/hmg/ddac225. Hum Mol Genet. 2023. PMID: 36067010 Free PMC article.
International consensus recommendations for management of New Onset Refractory Status Epilepticus (NORSE) incl. Febrile Infection-Related Epilepsy Syndrome (FIRES): Statements and Supporting Evidence.
Wickstrom R, Taraschenko O, Dilena R, Payne ET, Specchio N, Nabbout R, Koh S, Gaspard N, Hirsch LJ; International NORSE Consensus Group. Wickstrom R, et al. Epilepsia. 2022 Aug 23;63(11):2840-64. doi: 10.1111/epi.17397. Online ahead of print. Epilepsia. 2022. PMID: 35997591 Free PMC article.
43 results