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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: scholl t. Nat Commun. 2023 Nov 23;14(1):7664. doi: 10.1038/s41467-023-42855-6. Nat Commun. 2023. PMID: 37996417 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: scholl t. 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: scholl t. Neurobiol Dis. 2016 Nov;95:93-101. doi: 10.1016/j.nbd.2016.07.014. Epub 2016 Jul 16. Neurobiol Dis. 2016. PMID: 27425893
Impaired oligodendroglial turnover is associated with myelin pathology in focal cortical dysplasia and tuberous sclerosis complex.
Scholl T, Mühlebner A, Ricken G, Gruber V, Fabing A, Samueli S, Gröppel G, Dorfer C, Czech T, Hainfellner JA, Prabowo AS, Reinten RJ, Hoogendijk L, Anink JJ, Aronica E, Feucht M. Scholl T, et al. Brain Pathol. 2017 Nov;27(6):770-780. doi: 10.1111/bpa.12452. Epub 2017 Feb 9. Brain Pathol. 2017. PMID: 27750396 Free PMC article.
Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery.
Blumcke I, Spreafico R, Haaker G, Coras R, Kobow K, Bien CG, Pfäfflin M, Elger C, Widman G, Schramm J, Becker A, Braun KP, Leijten F, Baayen JC, Aronica E, Chassoux F, Hamer H, Stefan H, Rössler K, Thom M, Walker MC, Sisodiya SM, Duncan JS, McEvoy AW, Pieper T, Holthausen H, Kudernatsch M, Meencke HJ, Kahane P, Schulze-Bonhage A, Zentner J, Heiland DH, Urbach H, Steinhoff BJ, Bast T, Tassi L, Lo Russo G, Özkara C, Oz B, Krsek P, Vogelgesang S, Runge U, Lerche H, Weber Y, Honavar M, Pimentel J, Arzimanoglou A, Ulate-Campos A, Noachtar S, Hartl E, Schijns O, Guerrini R, Barba C, Jacques TS, Cross JH, Feucht M, Mühlebner A, Grunwald T, Trinka E, Winkler PA, Gil-Nagel A, Toledano Delgado R, Mayer T, Lutz M, Zountsas B, Garganis K, Rosenow F, Hermsen A, von Oertzen TJ, Diepgen TL, Avanzini G; EEBB Consortium. Blumcke I, et al. N Engl J Med. 2017 Oct 26;377(17):1648-1656. doi: 10.1056/NEJMoa1703784. N Engl J Med. 2017. PMID: 29069555 Free article.
Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations.
Bongaarts A, Giannikou K, Reinten RJ, Anink JJ, Mills JD, Jansen FE, Spliet GMW, den Dunnen WFA, Coras R, Blümcke I, Paulus W, Scholl T, Feucht M, Kotulska K, Jozwiak S, Buccoliero AM, Caporalini C, Giordano F, Genitori L, Söylemezoğlu F, Pimentel J, Nellist M, Schouten-van Meeteren AYN, Nag A, Mühlebner A, Kwiatkowski DJ, Aronica E. Bongaarts A, et al. Among authors: scholl t. Oncotarget. 2017 Sep 8;8(56):95516-95529. doi: 10.18632/oncotarget.20764. eCollection 2017 Nov 10. Oncotarget. 2017. PMID: 29221145 Free PMC article.
The coding and non-coding transcriptional landscape of subependymal giant cell astrocytomas.
Bongaarts A, van Scheppingen J, Korotkov A, Mijnsbergen C, Anink JJ, Jansen FE, Spliet WGM, den Dunnen WFA, Gruber VE, Scholl T, Samueli S, Hainfellner JA, Feucht M, Kotulska K, Jozwiak S, Grajkowska W, Buccoliero AM, Caporalini C, Giordano F, Genitori L, Coras R, Blümcke I, Krsek P, Zamecnik J, Meijer L, Scicluna BP, Schouten-van Meeteren AYN, Mühlebner A, Mills JD, Aronica E. Bongaarts A, et al. Among authors: scholl t. Brain. 2020 Jan 1;143(1):131-149. doi: 10.1093/brain/awz370. Brain. 2020. PMID: 31834371 Free PMC article.
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.
Ogórek B, Hamieh L, Hulshof HM, Lasseter K, Klonowska K, Kuijf H, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Krsek P, Nabbout R, Jansen AC, Benova B, Aronica E, Lagae L, Curatolo P, Borkowska J, Sadowski K, Domańska-Pakieła D, Janson S, Kozlowski P, Urbanska M, Jaworski J, Jozwiak S, Jansen FE, Kotulska K; EPISTOP Consortium members; Kwiatkowski DJ. Ogórek B, et al. Among authors: scholl t. Genet Med. 2020 Sep;22(9):1489-1497. doi: 10.1038/s41436-020-0823-4. Epub 2020 May 28. Genet Med. 2020. PMID: 32461669 Free article.
280 results