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Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay.
Kobow K, Jabari S, Pieper T, Kudernatsch M, Polster T, Woermann FG, Kalbhenn T, Hamer H, Rössler K, Mühlebner A, Spliet WGM, Feucht M, Hou Y, Stichel D, Korshunov A, Sahm F, Coras R, Blümcke I, von Deimling A. Kobow K, et al. Among authors: spliet wgm. Acta Neuropathol. 2020 Dec;140(6):881-891. doi: 10.1007/s00401-020-02228-5. Epub 2020 Sep 26. Acta Neuropathol. 2020. PMID: 32979071 Free PMC 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. 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.
Changes in vascular density in resected tissue of 97 patients with mild malformation of cortical development, focal cortical dysplasia or TSC-related cortical tubers.
Veersema TJ, de Neef A, van Scheppingen J, Ferrier CH, van Eijsden P, Gosselaar PH, van Rijen PC, Spliet WGM, Braun KPJ, Mühlebner A, Aronica E. Veersema TJ, et al. Among authors: spliet wgm. Int J Dev Neurosci. 2019 Dec;79:96-104. doi: 10.1016/j.ijdevneu.2019.11.003. Epub 2019 Nov 23. Int J Dev Neurosci. 2019. PMID: 31770571
Long-term seizure outcome after epilepsy surgery in patients with mild malformation of cortical development and focal cortical dysplasia.
Veersema TJ, Swampillai B, Ferrier CH, van Eijsden P, Gosselaar PH, van Rijen PC, Spliet WGM, Mühlebner A, Aronica E, Braun KPJ. Veersema TJ, et al. Among authors: spliet wgm. Epilepsia Open. 2018 Dec 13;4(1):170-175. doi: 10.1002/epi4.12289. eCollection 2019 Mar. Epilepsia Open. 2018. PMID: 30868127 Free PMC article.
Precise detection of low-level somatic mutation in resected epilepsy brain tissue.
Sim NS, Ko A, Kim WK, Kim SH, Kim JS, Shim KW, Aronica E, Mijnsbergen C, Spliet WGM, Koh HY, Kim HD, Lee JS, Kim DS, Kang HC, Lee JH. Sim NS, et al. Among authors: spliet wgm. Acta Neuropathol. 2019 Dec;138(6):901-912. doi: 10.1007/s00401-019-02052-6. Epub 2019 Aug 3. Acta Neuropathol. 2019. PMID: 31377847
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. Among authors: spliet wgm. 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.
Distinct DNA Methylation Patterns of Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex.
Bongaarts A, Mijnsbergen C, Anink JJ, Jansen FE, Spliet WGM, den Dunnen WFA, Coras R, Blümcke I, Paulus W, Gruber VE, Scholl T, Hainfellner JA, Feucht M, Kotulska K, Jozwiak S, Grajkowska W, Buccoliero AM, Caporalini C, Giordano F, Genitori L, Söylemezoğlu F, Pimentel J, Jones DTW, Scicluna BP, Schouten-van Meeteren AYN, Mühlebner A, Mills JD, Aronica E. Bongaarts A, et al. Among authors: spliet wgm. Cell Mol Neurobiol. 2022 Nov;42(8):2863-2892. doi: 10.1007/s10571-021-01157-5. Epub 2021 Oct 28. Cell Mol Neurobiol. 2022. PMID: 34709498 Free PMC article.
121 results