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Nicola Specchio, Chiara Pepi, Luca De Palma, Marina Trivisano, Federico Vigevano & Paolo Curatolo. (2021) Neuroimaging and genetic characteristics of malformation of cortical development due to mTOR pathway dysregulation: clues for the epileptogenic lesions and indications for epilepsy surgery. Expert Review of Neurotherapeutics 21:11, pages 1333-1345.
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Romina Moavero & Paolo Curatolo. (2020) Long-term use of mTORC1 inhibitors in tuberous sclerosis complex associated neurological aspects. Expert Opinion on Orphan Drugs 8:7, pages 215-225.
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Nicola Specchio, Rima Nabbout, Eleonora Aronica, Stephane Auvin, Arianna Benvenuto, Luca de Palma, Martha Feucht, Floor Jansen, Katarzyna Kotulska, Harvey Sarnat, Lieven Lagae, Sergiusz Jozwiak & Paolo Curatolo. (2023) Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy. European Journal of Paediatric Neurology 47, pages 25-34.
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Paolo Curatolo, Mirte Scheper, Leonardo Emberti Gialloreti, Nicola Specchio & Eleonora Aronica. (2023) Is tuberous sclerosis complex-associated autism a preventable and treatable disorder?. World Journal of Pediatrics.
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Miriam Sciaccaluga, Gabriele Ruffolo, Eleonora Palma & Cinzia Costa. (2023) Traditional and Innovative Anti-seizure Medications Targeting Key Physiopathological
Mechanisms: Focus on Neurodevelopment and Neurodegeneration. Current Neuropharmacology 21:8, pages 1736-1754.
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Claudia Di Napoli, Alessia Gennaro, Carmelania Lupica, Raffaele Falsaperla, Roberta Leonardi, Maria Teresa Garozzo, Agata Polizzi, Andrea D. Praticò, Antonio Zanghì & Martino Ruggieri. (2021) TSC1 and TSC2: Tuberous Sclerosis Complex and Its Related Epilepsy Phenotype. Journal of Pediatric Neurology 21:04, pages 235-247.
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Mengyi Guo, Jing Zhang, Jing Wang, Xiongfei Wang, Qing Gao, Chongyang Tang, Jiahui Deng, Zhonghua Xiong, Xiangru Kong, Yuguang Guan, Jian Zhou, Detlev Boison, Guoming Luan & Tianfu Li. (2023) Aberrant adenosine signaling in patients with focal cortical dysplasia. Molecular Neurobiology 60:8, pages 4396-4417.
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Eleonora Aronica, Nicola Specchio, Mark J Luinenburg & Paolo Curatolo. (2023) Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy. Brain 146:7, pages 2694-2710.
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Simon Granak, Klara Tuckova, Viera Kutna, Iveta Vojtechova, Laura Bajkova, Tomas Petrasek & Saak V. Ovsepian. (2022) Developmental effects of constitutive mTORC1 hyperactivity and environmental enrichment on structural synaptic plasticity and behaviour in a rat model of autism spectrum disorder. European Journal of Neuroscience 57:1, pages 17-31.
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Hans J. ten Donkelaar, Martin Lammens & Akira HoriHans J. ten Donkelaar, Lana Vasung, Zoltán Molnár, Eleonora Aronica, Martin Lammens, Hans van Bokhoven, Karin Kamphuis-van Ulzen & Akira Hori. 2023. Clinical Neuroembryology. Clinical Neuroembryology
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Anatoly Korotkov, Mark J. Luinenburg, Alessia Romagnolo, Till S. Zimmer, Jackelien van Scheppingen, Anika Bongaarts, Diede W. M. Broekaart, Jasper J. Anink, Caroline Mijnsbergen, Floor E. Jansen, Wim van Hecke, Wim G. Spliet, Peter C. van Rijen, Martha Feucht, Johannes A. Hainfellner, Pavel Krsek, Josef Zamecnik, Peter B. Crino, Katarzyna Kotulska, Lieven Lagae, Anna C. Jansen, David J. Kwiatkowski, Sergiusz Jozwiak, Paolo Curatolo, Angelika Mühlebner, Erwin A. van Vliet, James D. Mills & Eleonora Aronica. (2022) Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period. Journal of Neurodevelopmental Disorders 14:1.
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Katja Glutig, Ralf Husain, Diane Renz, Ulrike John-Kroegel & Hans-Joachim Mentzel. (2022) Tuberöse-Sklerose-KomplexTuberous sclerosis complex. Die Radiologie 62:12, pages 1058-1066.
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Zimeng Ye, Sufang Lin, Xia Zhao, Mark F. Bennett, Natasha J. Brown, Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu, Ravikiran Vedururu, Tom Witkowski, Fiona Gardiner, Chloe Stutterd, Jing Duan, Saul A. Mullen, George McGillivray, Simon Bodek, Giulia Valente, Matthew Reagan, Yi Yao, Lin Li, Li Chen, Amber Boys, Thiuni N. Adikari, Dezhi Cao, Zhanqi Hu, Victoria Beshay, Victor W. Zhang, Samuel F. Berkovic, Ingrid E. Scheffer, Jianxiang Liao & Michael S. Hildebrand. (2022) Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting. Human Mutation 43:12, pages 1956-1969.
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Conceição Campanario da Silva Pereira, Felipe Diego Gomes Dantas & Maria Luiza Giraldes de Manreza. (2022) Clinical profile of tuberous sclerosis complex patients with and without epilepsy: a need for awareness for early diagnosis. Arquivos de Neuro-Psiquiatria 80:10, pages 1004-1010.
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Ann-Sofie De Meulemeester, Lise Heylen, Aleksandra Siekierska, James D. Mills, Alessia Romagnolo, Nicole N. Van Der Wel, Eleonora Aronica & Peter A. M. de Witte. (2022) Hyperactivation of mTORC1 in a double hit mutant zebrafish model of tuberous sclerosis complex causes increased seizure susceptibility and neurodevelopmental abnormalities. Frontiers in Cell and Developmental Biology 10.
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Eleonora Aronica, Devin K. Binder, Meinrad Drexel, Chrysanthy Ikonomidou, Shilpa D. Kadam, Guenther Sperk & Christian Steinhäuser. (2022)
A companion to the preclinical common data elements and case report forms for neuropathology studies in epilepsy research. A report of the
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Paolo Curatolo, Nicola Specchio & Eleonora Aronica. (2022) Advances in the genetics and neuropathology of tuberous sclerosis complex: edging closer to targeted therapy. The Lancet Neurology 21:9, pages 843-856.
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Dongsheng Gao, Linqing Ma, Yunliang Xie, Bo Xiao, Shouru Xue, Wenbiao Xiao, You Zhou, Xiuying Cai & Xiaoyan Yang. (2022) Electroacupuncture Promotes Autophagy by Regulating the AKT/mTOR Signaling Pathway in Temporal Lobe Epilepsy. Neurochemical Research 47:8, pages 2396-2404.
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Tsang-Shan Chen, Ming-Chi Lai, Huai-Ying Ingrid Huang, Sheng-Nan Wu & Chin-Wei Huang. (2022) Immunity, Ion Channels and Epilepsy. International Journal of Molecular Sciences 23:12, pages 6446.
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Romina Moavero, Angelika Mühlebner, Mark Jasper Luinenburg, Dana Craiu, Eleonora Aronica & Paolo Curatolo. (2022) Genetic pathogenesis of the epileptogenic lesions in Tuberous Sclerosis Complex: Therapeutic targeting of the mTOR pathway. Epilepsy & Behavior 131, pages 107713.
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Hanna M. Hulshof, Hugo J. Kuijf, Katarzyna Kotulska, Paolo Curatolo, Bernhard Weschke, Kate Riney, Pavel Krsek, Martha Feucht, Rima Nabbout, Lieven Lagae, Anna Jansen, Wim M. Otte, Maarten H. Lequin, Kamil Sijko, Arianna Benvenuto, Christoph Hertzberg, Barbora Benova, Theresa Scholl, Jessie De Ridder, Eleonora M.A. Aronica, David J. Kwiatkowski, Sergiusz Jozwiak, Elzbieta Jurkiewicz, Kees Braun, Floor E. Jansen, J. Anink Ing, M. Blazejczyk, A.J.Borkowska Bongaarts, D. Breuillard, D. Chmielewski, M. Dabrowska, D. DomańskaPakieła, L. Emberti Gialloreti, K. Giannikou, J. Głowacka-Walas, L. Hamieh, A. Iyer, B. Janssen, J. Jaworski, M. Kaczorowska-Frontczak, K. Lehmann, N. Maćkowiak, J.D. Mills, R. Moavero, A. Muelebner, J. de Ridder, K. Sadowski, C. Scheldeman, T. Scholl, A. Sciuto, M. Słowińska, A. Tempes, J. van Scheppingen, B. Verhelle, J. Vervisch & M. Urbańska. (2022) Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex. Neurology 98:12.
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Nicola Specchio, Giusy Carfi Pavia, Luca de Palma, Alessandro De Benedictis, Chiara Pepi, Marta Conti, Carlo Efisio Marras, Federico Vigevano & Paolo Curatolo. (2022) Current role of surgery for tuberous sclerosis complex‐associated epilepsy. Pediatric Investigation 6:1, pages 16-22.
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Nicola Specchio, Valentina Di Micco, Marina Trivisano, Alessandro Ferretti & Paolo Curatolo. (2021) The epilepsy–autism spectrum disorder phenotype in the era of molecular genetics and precision therapy. Epilepsia 63:1, pages 6-21.
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Romina Moavero, Alessandra Voci, Francesca La Briola, Sara Matricardi, Irene Toldo, Maria Margherita Mancardi, Susanna Negrin, Tullio Messana, Luigi Mazzone, Massimiliano Valeriani, Paolo Curatolo & Oliviero Bruni. (2022) Sleep disorders and neuropsychiatric disorders in a pediatric sample of tuberous sclerosis complex: a questionnaire-based study. Sleep Medicine 89, pages 65-70.
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Christoph Hertzberg & David Neal Franz. 2022. NeuroPsychopharmacotherapy. NeuroPsychopharmacotherapy
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Hanna M. Hulshof, Barbora Benova, Pavel Krsek, Martin Kyncl, Maarten H. Lequin, Anezka Belohlavkova, Petr Jezdik, Kees P. J. Braun & Floor E. Jansen. (2021) The epileptogenic zone in children with tuberous sclerosis complex is characterized by prominent features of focal cortical dysplasia. Epilepsia Open 6:4, pages 663-671.
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Tenghui Han, Zhenyu Wu, Jun Zhu, Yao Kou, Jipeng Li & Yanchun Deng. (2021) Analysis and Construction of a Molecular Diagnosis Model of Drug-Resistant Epilepsy Based on Bioinformatics. Frontiers in Molecular Biosciences 8.
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Sergiusz Jozwiak & Paolo Curatolo. (2021) Editorial: Tuberous Sclerosis Complex – Diagnosis and Management. Frontiers in Neurology 12.
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Anatoly Korotkov, Nam Suk Sim, Mark J. Luinenburg, Jasper J. Anink, Jackelien van Scheppingen, Till S. Zimmer, Anika Bongaarts, Diede W. M. Broekaart, Caroline Mijnsbergen, Floor E. Jansen, Wim Van Hecke, Wim G. M. Spliet, Peter C. van Rijen, Martha Feucht, Johannes A. Hainfellner, Pavel Kršek, Josef Zamecnik, Peter B. Crino, Katarzyna Kotulska, Lieven Lagae, Anna C. Jansen, David J. Kwiatkowski, Sergiusz Jozwiak, Paolo Curatolo, Angelika Mühlebner, Jeong H. Lee, James D. Mills, Erwin A. van Vliet & Eleonora Aronica. (2021) MicroRNA‐34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis. Neuropathology and Applied Neurobiology 47:6, pages 796-811.
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Melissa Barker‐Haliski, Kevin Knox, Dannielle Zierath, Zachery Koneval, Cameron Metcalf, Karen S. Wilcox & H. Steve White. (2021) Development of an antiepileptogenesis drug screening platform: Effects of everolimus and phenobarbital. Epilepsia 62:7, pages 1677-1688.
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Nicola Specchio & Paolo Curatolo. (2021) Developmental and epileptic encephalopathies: what we do and do not know. Brain 144:1, pages 32-43.
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Shuqiang Li, Huijie Shao & Liansheng Chang. (2020) The Important Role of Perituberal Tissue in Epileptic Patients with Tuberous Sclerosis Complex by the Transcriptome Analysis. BioMed Research International 2020, pages 1-11.
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Till S. Zimmer, Diede W. M. Broekaart, Victoria-Elisabeth Gruber, Erwin A. van Vliet, Angelika Mühlebner & Eleonora Aronica. (2020) Tuberous Sclerosis Complex as Disease Model for Investigating mTOR-Related Gliopathy During Epileptogenesis. Frontiers in Neurology 11.
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