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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: van scheppingen j. Nat Commun. 2023 Nov 23;14(1):7664. doi: 10.1038/s41467-023-42855-6. Nat Commun. 2023. PMID: 37996417 Free PMC article.
Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial.
Kotulska K, Kwiatkowski DJ, Curatolo P, Weschke B, Riney K, Jansen F, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Sijko K, Głowacka-Walas J, Borkowska J, Sadowski K, Domańska-Pakieła D, Moavero R, Hertzberg C, Hulshof H, Scholl T, Benova B, Aronica E, de Ridder J, Lagae L, Jóźwiak S; EPISTOP Investigators. Kotulska K, et al. Ann Neurol. 2021 Feb;89(2):304-314. doi: 10.1002/ana.25956. Epub 2020 Nov 27. Ann Neurol. 2021. PMID: 33180985 Free PMC article. Clinical Trial.
Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes.
De Ridder J, Verhelle B, Vervisch J, Lemmens K, Kotulska K, Moavero R, Curatolo P, Weschke B, Riney K, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Domanska-Pakieła D, Kaczorowska-Frontczak M, Hertzberg C, Ferrier CH, Samueli S, Benova B, Aronica E, Kwiatkowski DJ, Jansen FE, Jóźwiak S, Lagae L; EPISTOP consortium. De Ridder J, et al. Epilepsia. 2021 May;62(5):1208-1219. doi: 10.1111/epi.16892. Epub 2021 Mar 29. Epilepsia. 2021. PMID: 33778971 Clinical Trial.
Expression of microRNAs miR21, miR146a, and miR155 in tuberous sclerosis complex cortical tubers and their regulation in human astrocytes and SEGA-derived cell cultures.
van Scheppingen J, Iyer AM, Prabowo AS, Mühlebner A, Anink JJ, Scholl T, Feucht M, Jansen FE, Spliet WG, Krsek P, Zamecnik J, Buccoliero AM, Giordano F, Genitori L, Kotulska K, Jozwiak S, Jaworski J, Liszewska E, van Vliet EA, Aronica E. van Scheppingen J, et al. Among authors: van vliet ea. Glia. 2016 Jun;64(6):1066-82. doi: 10.1002/glia.22983. Epub 2016 Mar 25. Glia. 2016. PMID: 27014996
Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis omplex (TSC): evidence from layer-specific marker expression.
Mühlebner A, Iyer AM, van Scheppingen J, Anink JJ, Jansen FE, Veersema TJ, Braun KP, Spliet WG, van Hecke W, Söylemezoğlu F, Feucht M, Krsek P, Zamecnik J, Bien CG, Polster T, Coras R, Blümcke I, Aronica E. Mühlebner A, et al. Among authors: van hecke w, van scheppingen j. J Neurodev Disord. 2016 Apr 1;8:9. doi: 10.1186/s11689-016-9142-0. eCollection 2016. J Neurodev Disord. 2016. PMID: 27042238 Free PMC article.
Novel Histopathological Patterns in Cortical Tubers of Epilepsy Surgery Patients with Tuberous Sclerosis Complex.
Mühlebner A, van Scheppingen J, Hulshof HM, Scholl T, Iyer AM, Anink JJ, van den Ouweland AM, Nellist MD, Jansen FE, Spliet WG, Krsek P, Benova B, Zamecnik J, Crino PB, Prayer D, Czech T, Wöhrer A, Rahimi J, Höftberger R, Hainfellner JA, Feucht M, Aronica E. Mühlebner A, et al. Among authors: van den ouweland am, van scheppingen j. PLoS One. 2016 Jun 13;11(6):e0157396. doi: 10.1371/journal.pone.0157396. eCollection 2016. PLoS One. 2016. PMID: 27295297 Free PMC article.
Functional aspects of early brain development are preserved in tuberous sclerosis complex (TSC) epileptogenic lesions.
Ruffolo G, Iyer A, Cifelli P, Roseti C, Mühlebner A, van Scheppingen J, Scholl T, Hainfellner JA, Feucht M, Krsek P, Zamecnik J, Jansen FE, Spliet WG, Limatola C, Aronica E, Palma E. Ruffolo G, et al. Among authors: van scheppingen j. Neurobiol Dis. 2016 Nov;95:93-101. doi: 10.1016/j.nbd.2016.07.014. Epub 2016 Jul 16. Neurobiol Dis. 2016. PMID: 27425893
Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment.
Mills JD, Iyer AM, van Scheppingen J, Bongaarts A, Anink JJ, Janssen B, Zimmer TS, Spliet WG, van Rijen PC, Jansen FE, Feucht M, Hainfellner JA, Krsek P, Zamecnik J, Kotulska K, Jozwiak S, Jansen A, Lagae L, Curatolo P, Kwiatkowski DJ, Pasterkamp RJ, Senthilkumar K, von Oerthel L, Hoekman MF, Gorter JA, Crino PB, Mühlebner A, Scicluna BP, Aronica E. Mills JD, et al. Among authors: van rijen pc, van scheppingen j. Sci Rep. 2017 Aug 14;7(1):8089. doi: 10.1038/s41598-017-06145-8. Sci Rep. 2017. PMID: 28808237 Free PMC article.
mTOR dysregulation and tuberous sclerosis-related epilepsy.
Curatolo P, Moavero R, van Scheppingen J, Aronica E. Curatolo P, et al. Among authors: van scheppingen j. Expert Rev Neurother. 2018 Mar;18(3):185-201. doi: 10.1080/14737175.2018.1428562. Epub 2018 Jan 27. Expert Rev Neurother. 2018. PMID: 29338461 Review.
37 results