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Select item 75592371.

Myelin Pathology Beyond White Matter in Tuberous Sclerosis Complex (TSC) Cortical Tubers

Angelika Mühlebner, Jackelien van Scheppingen, Andrew de Neef, Anika Bongaarts, Till S Zimmer, James D Mills, Floor E Jansen, Wim G M Spliet, Pavel Krsek, Josef Zamecnik, Roland Coras, Ingmar Blumcke, Martha Feucht, Theresa Scholl, Victoria-Elisabeth Gruber, Johannes A Hainfellner, Figen Söylemezoğlu, Katarzyna Kotulska, Lieven Lagae, Anna C Jansen, David J Kwiatkowski, Sergiusz Jozwiak, Paolo Curatolo, Eleonora Aronica

J Neuropathol Exp Neurol. 2020 Oct; 79(10): 1054–1064. Published online 2020 Sep 15. doi: 10.1093/jnen/nlaa090

PMCID:: PMC7559237

Abstract Article PDF–700K

Select item 60703032.

A distinct microRNA expression profile is associated with α[¹¹C]-methyl-L-tryptophan (AMT) PET uptake in epileptogenic cortical tubers resected from patients with tuberous sclerosis complex

Shruti Bagla, Daniela Cukovic, Eishi Asano, Sandeep Sood, Aimee Luat, Harry T. Chugani, Diane C. Chugani, Alan A. Dombkowski

Neurobiol Dis. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Neurobiol Dis. 2018 Jan; 109(Pt A): 76–87. Published online 2017 Oct 7. doi: 10.1016/j.nbd.2017.10.004

PMCID:: PMC6070303

Abstract Article PDF–1.3M

Select item 92894153.

Giant cyst-like cortical tubers in an adult with tuberous sclerosis presenting as spastic tetraplegia

Habib Ahmad Esmat

Ann Med Surg (Lond) 2022 Jul; 79: 104024. Published online 2022 Jun 22. doi: 10.1016/j.amsu.2022.104024

PMCID:: PMC9289415

Abstract Article PDF–4.5M

Select item 55560114.

Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment

James D. Mills, Anand M. Iyer, Jackelien van Scheppingen, Anika Bongaarts, Jasper J. Anink, Bart Janssen, Till S. Zimmer, Wim G. Spliet, Peter C. van Rijen, Floor E. Jansen, Martha Feucht, Johannes A. Hainfellner, Pavel Krsek, Josef Zamecnik, Katarzyna Kotulska, Sergiusz Jozwiak, Anna Jansen, Lieven Lagae, Paolo Curatolo, David J. Kwiatkowski, R. Jeroen Pasterkamp, Ketharini Senthilkumar, Lars von Oerthel, Marco F. Hoekman, Jan A. Gorter, Peter B. Crino, Angelika Mühlebner, Brendon P. Scicluna, Eleonora Aronica

Sci Rep. 2017; 7: 8089. Published online 2017 Aug 14. doi: 10.1038/s41598-017-06145-8

Correction in:: Sci Rep. 2022; 12: 15457.

PMCID:: PMC5556011

Abstract Article PDF–3.2M

Select item 68678165.

Biallelic Mutations in TSC2 Lead to Abnormalities Associated with Cortical Tubers in Human iPSC-Derived Neurons

Kellen D. Winden, Maria Sundberg, Cindy Yang, Syed M.A. Wafa, Sean Dwyer, Pin-Fang Chen, Elizabeth D. Buttermore, Mustafa Sahin

J Neurosci. 2019 Nov 20; 39(47): 9294–9305. doi: 10.1523/JNEUROSCI.0642-19.2019

PMCID:: PMC6867816

Abstract Article PDF–2.7M

Select item 49056256.

Novel Histopathological Patterns in Cortical Tubers of Epilepsy Surgery Patients with Tuberous Sclerosis Complex

Angelika Mühlebner, Jackelien van Scheppingen, Hanna M. Hulshof, Theresa Scholl, Anand M. Iyer, Jasper J. Anink, Ans M. W. van den Ouweland, Mark D. Nellist, Floor E. Jansen, Wim G. M. Spliet, Pavel Krsek, Barbora Benova, Josef Zamecnik, Peter B. Crino, Daniela Prayer, Thomas Czech, Adelheid Wöhrer, Jasmin Rahimi, Romana Höftberger, Johannes A. Hainfellner, Martha Feucht, Eleonora Aronica

PLoS One. 2016; 11(6): e0157396. Published online 2016 Jun 13. doi: 10.1371/journal.pone.0157396

PMCID:: PMC4905625

Abstract Article PDF–4.9M

Select item 48189227.

Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis omplex (TSC): evidence from layer-specific marker expression

Angelika Mühlebner, Anand M. Iyer, Jackelien van Scheppingen, Jasper J. Anink, Floor E. Jansen, Tim J. Veersema, Kees P. Braun, Wim G. M. Spliet, Wim van Hecke, Figen Söylemezoğlu, Martha Feucht, Pavel Krsek, Josef Zamecnik, Christian G. Bien, Tilman Polster, Roland Coras, Ingmar Blümcke, Eleonora Aronica

J Neurodev Disord. 2016; 8: 9. Published online 2016 Apr 1. doi: 10.1186/s11689-016-9142-0

PMCID:: PMC4818922

Abstract Article PDF–1.8M

Select item 47376048.

Cortical Tubers: Windows into Dysregulation of Epilepsy Risk and Synaptic Signaling Genes by MicroRNAs

Alan A. Dombkowski, Carlos E. Batista, Daniela Cukovic, Nicholas J. Carruthers, Ramya Ranganathan, Upasana Shukla, Paul M. Stemmer, Harry T. Chugani, Diane C. Chugani

Cereb Cortex. 2016 Mar; 26(3): 1059–1071. Published online 2014 Dec 1. doi: 10.1093/cercor/bhu276

PMCID:: PMC4737604

Abstract Article PDF–555K

Select item 79738179.

Proton MR Spectroscopy of Cortical Tubers in Adults with Tuberous Sclerosis Complex

William Mukonoweshuro, Iain D. Wilkinson, Paul D. Griffiths

AJNR Am J Neuroradiol. 2001 Nov; 22(10): 1920–1925.

PMCID:: PMC7973817

Abstract Article PDF–370K

Select item 802911010.

Expression and Cellular Distribution of Vascular Endothelial Growth Factor‐C System in Cortical Tubers of the Tuberous Sclerosis Complex

Chun‐Qing Zhang, Hai‐Feng Shu, Qing Yin, Ning An, Sen‐Lin Xu, Jin‐Bo Yin, Ye‐Chun Song, Shi‐Yong Liu, Hui Yang

Brain Pathol. 2012 Mar; 22(2): 205–218. Published online 2011 Sep 16. doi: 10.1111/j.1750-3639.2011.00519.x

PMCID:: PMC8029110

Abstract Article PDF–2.3M

Select item 802936411.

Suppressed Expression of Autophagosomal Protein LC3 in Cortical Tubers of Tuberous Sclerosis Complex

Hiroaki Miyahara, Manabu Natsumeda, Atsushi Shiga, Hiroshi Aoki, Yasuko Toyoshima, Yingjun Zheng, Ryoko Takeuchi, Hiroatsu Murakami, Hiroshi Masuda, Shigeki Kameyama, Tatsuro Izumi, Yukihiko Fujii, Hitoshi Takahashi, Akiyoshi Kakita

Brain Pathol. 2013 May; 23(3): 254–262. Published online 2012 Oct 23. doi: 10.1111/j.1750-3639.2012.00634.x

PMCID:: PMC8029364

Abstract Article PDF–1.2M

Select item 295147912.

Analysis of TSC Cortical Tubers by Deep Sequencing of TSC1, TSC2 and KRAS Demonstrates that Small Second‐Hit Mutations in these Genes are Rare Events

Wei Qin, Jennifer A. Chan, Harry V. Vinters, Gary W. Mathern, David N. Franz, Bruce E. Taillon, Pascal Bouffard, David J. Kwiatkowski

Brain Pathol. 2010 Nov; 20(6): 1096–1105. Published online 2010 Jun 9. doi: 10.1111/j.1750-3639.2010.00416.x

PMCID:: PMC2951479

Abstract Article PDF–926K

Select item 288886713.

Gene Expression Analysis of Tuberous Sclerosis Complex Cortical Tubers Reveals Increased Expression of Adhesion and Inflammatory Factors

Karin Boer, Peter B. Crino, Jan A. Gorter, Mark Nellist, Floor E. Jansen, Wim G.M. Spliet, Peter C. Van Rijen, Floyd R.A. Wittink, Timo M. Breit, Dirk Troost, Wytse J. Wadman, Eleonora Aronica

Brain Pathol. 2010 Jul; 20(4): 704–719. Published online 2009 Oct 8. doi: 10.1111/j.1750-3639.2009.00341.x