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Genetic testing in children enrolled in epilepsy surgery program. A real-life study.
Straka B, Splitkova B, Vlckova M, Tesner P, Rezacova H, Krskova L, Koblizek M, Kyncl M, Maulisova A, Bukacova K, Uhrova-Meszarosova A, Musilova A, Kudr M, Ebel M, Belohlavkova A, Jahodova A, Liby P, Tichy M, Jezdik P, Zamecnik J, Aronica E, Krsek P. Straka B, et al. Among authors: aronica e. Eur J Paediatr Neurol. 2023 Nov;47:80-87. doi: 10.1016/j.ejpn.2023.09.009. Epub 2023 Oct 5. Eur J Paediatr Neurol. 2023. PMID: 37812946
Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years.
Huschner F, Głowacka-Walas J, Mills JD, Klonowska K, Lasseter K, Asara JM, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Krsek P, Nabbout R, Jansen AC, Petrák B, van Scheppingen J, Zamecnik J, Iyer A, Anink JJ, Mühlebner A, Mijnsbergen C, Lagae L, Curatolo P, Borkowska J, Sadowski K, Domańska-Pakieła D, Blazejczyk M, Jansen FE, Janson S, Urbanska M, Tempes A, Janssen B, Sijko K, Wojdan K, Jozwiak S, Kotulska K, Lehmann K, Aronica E, Jaworski J, Kwiatkowski DJ. Huschner F, et al. Among authors: aronica e. Nat Commun. 2023 Nov 23;14(1):7664. doi: 10.1038/s41467-023-42855-6. Nat Commun. 2023. PMID: 37996417 Free PMC article.
Loss of maturity and homeostatic functions in Tuberous Sclerosis Complex-derived astrocytes.
Luinenburg MJ, Scheper M, Sørensen FNF, Anink JJ, Van Hecke W, Korshunova I, Jansen FE, Riney K, van Eijsden P, Gosselaar P, Mills JD, Kalf RS, Zimmer TS, Broekaart DWM, Khodosevich K, Aronica E, Mühlebner A. Luinenburg MJ, et al. Among authors: aronica e. Front Cell Neurosci. 2023 Nov 28;17:1284394. doi: 10.3389/fncel.2023.1284394. eCollection 2023. Front Cell Neurosci. 2023. PMID: 38089143 Free PMC article.
Corrigendum to "Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy" [Eur. J. Paediatr. Neurol. 47 (2023) 25-34].
Specchio N, Nabbout R, Aronica E, Auvin S, Benvenuto A, de Palma L, Feucht M, Jansen F, Kotulska K, Sarnat H, Lagae L, Jozwiak S, Curatolo P. Specchio N, et al. Among authors: aronica e. Eur J Paediatr Neurol. 2024 Jul;51:149-150. doi: 10.1016/j.ejpn.2023.12.004. Epub 2024 May 18. Eur J Paediatr Neurol. 2024. PMID: 38762440 No abstract available.
The expanding field of genetic developmental and epileptic encephalopathies: current understanding and future perspectives.
Specchio N, Trivisano M, Aronica E, Balestrini S, Arzimanoglou A, Colasante G, Cross JH, Jozwiak S, Wilmshurst JM, Vigevano F, Auvin S, Nabbout R, Curatolo P. Specchio N, et al. Among authors: aronica e. Lancet Child Adolesc Health. 2024 Nov;8(11):821-834. doi: 10.1016/S2352-4642(24)00196-2. Lancet Child Adolesc Health. 2024. PMID: 39419567 Review.
581 results