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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: aronica e. 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.
Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation.
Prabowo AS, Anink JJ, Lammens M, Nellist M, van den Ouweland AM, Adle-Biassette H, Sarnat HB, Flores-Sarnat L, Crino PB, Aronica E. Prabowo AS, et al. Among authors: aronica e. Brain Pathol. 2013 Jan;23(1):45-59. doi: 10.1111/j.1750-3639.2012.00616.x. Epub 2012 Aug 30. Brain Pathol. 2013. PMID: 22805177 Free PMC article.
Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase.
Malik AR, Liszewska E, Skalecka A, Urbanska M, Iyer AM, Swiech LJ, Perycz M, Parobczak K, Pietruszka P, Zarebska MM, Macias M, Kotulska K, Borkowska J, Grajkowska W, Tyburczy ME, Jozwiak S, Kwiatkowski DJ, Aronica E, Jaworski J. Malik AR, et al. Among authors: aronica e. Acta Neuropathol Commun. 2015 Jul 30;3:48. doi: 10.1186/s40478-015-0225-z. Acta Neuropathol Commun. 2015. PMID: 26220190 Free PMC article.
International recommendation for a comprehensive neuropathologic workup of epilepsy surgery brain tissue: A consensus Task Force report from the ILAE Commission on Diagnostic Methods.
Blümcke I, Aronica E, Miyata H, Sarnat HB, Thom M, Roessler K, Rydenhag B, Jehi L, Krsek P, Wiebe S, Spreafico R. Blümcke I, et al. Among authors: aronica e. Epilepsia. 2016 Mar;57(3):348-58. doi: 10.1111/epi.13319. Epub 2016 Feb 3. Epilepsia. 2016. PMID: 26839983 Free article.
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: aronica e. 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.
566 results