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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: muhlebner a. Nat Commun. 2023 Nov 23;14(1):7664. doi: 10.1038/s41467-023-42855-6. Nat Commun. 2023. PMID: 37996417 Free PMC article.
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: muhlebner a. 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. 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. 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: muhlebner a. 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: muhlebner a. Sci Rep. 2017 Aug 14;7(1):8089. doi: 10.1038/s41598-017-06145-8. Sci Rep. 2017. PMID: 28808237 Free PMC article.
Dysregulation of the MMP/TIMP Proteolytic System in Subependymal Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex: Modulation of MMP by MicroRNA-320d In Vitro.
Bongaarts A, de Jong JM, Broekaart DWM, van Scheppingen J, Anink JJ, Mijnsbergen C, Jansen FE, Spliet WGM, den Dunnen WFA, Gruber VE, Scholl T, Hainfellner JA, Feucht M, Borkowska J, Kotulska K, Jozwiak S, Grajkowska W, Buccoliero AM, Caporalini C, Giordano F, Genitori L, Scicluna BP, Schouten-van Meeteren AYN, van Vliet EA, Mühlebner A, Mills JD, Aronica E. Bongaarts A, et al. Among authors: muhlebner a. J Neuropathol Exp Neurol. 2020 Jul 1;79(7):777-790. doi: 10.1093/jnen/nlaa040. J Neuropathol Exp Neurol. 2020. PMID: 32472129 Free PMC article.
Myelin Pathology Beyond White Matter in Tuberous Sclerosis Complex (TSC) Cortical Tubers.
Mühlebner A, van Scheppingen J, de Neef A, Bongaarts A, Zimmer TS, Mills JD, Jansen FE, Spliet WGM, Krsek P, Zamecnik J, Coras R, Blumcke I, Feucht M, Scholl T, Gruber VE, Hainfellner JA, Söylemezoğlu F, Kotulska K, Lagae L, Jansen AC, Kwiatkowski DJ, Jozwiak S, Curatolo P, Aronica E. Mühlebner A, et al. J Neuropathol Exp Neurol. 2020 Oct 1;79(10):1054-1064. doi: 10.1093/jnen/nlaa090. J Neuropathol Exp Neurol. 2020. PMID: 32954437 Free PMC article.
75 results