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

Get full text

Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years by Huschner, Franz, Głowacka-Walas, Jagoda, Mills, James D., Klonowska, Katarzyna, Lasseter, Kathryn, Asara, John M., Moavero, Romina, Hertzberg, Christoph, Weschke, Bernhard, Riney, Kate, Feucht, Martha, Scholl, Theresa, Krsek, Pavel, Nabbout, Rima, Jansen, Anna C., Petrák, Bořivoj, van Scheppingen, Jackelien, Zamecnik, Josef, Iyer, Anand, Anink, Jasper J., Mühlebner, Angelika, Mijnsbergen, Caroline, Lagae, Lieven, Curatolo, Paolo, Borkowska, Julita, Sadowski, Krzysztof, Domańska-Pakieła, Dorota, Blazejczyk, Magdalena, Jansen, Floor E., Janson, Stef, Urbanska, Malgorzata, Tempes, Aleksandra, Janssen, Bart, Sijko, Kamil, Wojdan, Konrad, Jozwiak, Sergiusz, Kotulska, Katarzyna, Lehmann, Karola, Aronica, Eleonora, Jaworski, Jacek, Kwiatkowski, David J.

Get full text

Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex by Jóźwiak, Sergiusz, Kotulska, Katarzyna, Domańska-Pakieła, Dorota, Łojszczyk, Barbara, Syczewska, Małgorzata, Chmielewski, Dariusz, Dunin-Wąsowicz, Dorota, Kmieć, Tomasz, Szymkiewicz-Dangel, Joanna, Kornacka, Maria, Kawalec, Wanda, Kuczyński, Dariusz, Borkowska, Julita, Tomaszek, Katarzyna, Jurkiewicz, Elżbieta, Respondek-Liberska, Maria

Get full text

Surgical Treatment of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex Patients by Kotulska, Katarzyna, MD, PhD, Borkowska, Julita, MD, Roszkowski, Marcin, MD, PhD, Mandera, Marek, MD, PhD, Daszkiewicz, Paweł, MD, PhD, Drabik, Krzysztof, MD, Jurkiewicz, Elzbieta, MD, PhD, Larysz-Brysz, Magdalena, PhD, Nowak, Katarzyna, MD, Grajkowska, Wiesława, MD, PhD, Domańska-Pakieła, Dorota, MD, PhD, Jóźwiak, Sergiusz, MD, PhD

Get full text

Tuberous sclerosis complex: tumors and tumorigenesis by Borkowska, Julita, Schwartz, Robert A., Kotulska, Katarzyna, Jozwiak, Sergiusz

Get full text

Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes by De Ridder, Jessie, Verhelle, Birgit, Vervisch, Jan, Lemmens, Katrien, Kotulska, Katarzyna, Moavero, Romina, Curatolo, Paolo, Weschke, Bernhard, Riney, Kate, Feucht, Martha, Krsek, Pavel, Nabbout, Rima, Jansen, Anna C., Wojdan, Konrad, Domanska‐Pakieła, Dorota, Kaczorowska‐Frontczak, Magdalena, Hertzberg, Christoph, Ferrier, Cyrille H., Samueli, Sharon, Benova, Barbora, Aronica, Eleonora, Kwiatkowski, David J., Jansen, Floor E., Jóźwiak, Sergiusz, Lagae, Lieven, Anink, J, Benvenuto, A, Blazejczyk, M, Bongaarts, A, Borkowska, J, Breuillard, D, Chmielewski, D, Dabrowska, M, Emberti Gialloreti, L, Giannikou, K, Głowacka‐Walas, J, Hamieh, L, Haręza, A, Hulshof, H, Iyer, A, Janssen, B, Jaworski, J, Lehmann, K, Leusman, A, Maćkowiak, N, Mills, J. D., Muehlebner, A, Sadowski, K, Scheldeman, C, Scholl, T, Schooneveld, M, Sciuto, A, Sijko, K, Slowinska, M, Tempes, A, Urbańska, M, van Scheppingen, J

Get full text

Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile by Giannikou, Krinio, Zhu, Zachary, Kim, Jaegil, Winden, Kellen D., Tyburczy, Magdalena E., Marron, David, Parker, Joel S., Hebert, Zachary, Bongaarts, Anika, Taing, Len, Long, Henry W., Pisano, William V., Alexandrescu, Sanda, Godlewski, Brianna, Nellist, Mark, Kotulska, Katarzyna, Jozwiak, Sergiusz, Roszkowski, Marcin, Mandera, Marek, Thiele, Elizabeth A., Lidov, Hart, Getz, Gad, Devinsky, Orrin, Lawrence, Michael S., Ligon, Keith L., Ellison, David W., Sahin, Mustafa, Aronica, Eleonora, Meredith, David M., Kwiatkowski, David J.

Get full text

Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment by Mills, James D., Iyer, Anand M., van Scheppingen, Jackelien, Bongaarts, Anika, Anink, Jasper J., Janssen, Bart, Zimmer, Till S., Spliet, Wim G., van Rijen, Peter C., Jansen, Floor E., Feucht, Martha, Hainfellner, Johannes A., Krsek, Pavel, Zamecnik, Josef, Kotulska, Katarzyna, Jozwiak, Sergiusz, Jansen, Anna, Lagae, Lieven, Curatolo, Paolo, Kwiatkowski, David J., Pasterkamp, R. Jeroen, Senthilkumar, Ketharini, von Oerthel, Lars, Hoekman, Marco F., Gorter, Jan A., Crino, Peter B., Mühlebner, Angelika, Scicluna, Brendon P., Aronica, Eleonora

Get full text

Newborn screening and gene therapy in SMA: Challenges related to vaccinations by Kotulska, Katarzyna, Jozwiak, Sergiusz, Jedrzejowska, Maria, Gos, Monika, Ogrodnik, Magdalena, Wysocki, Jacek, Czajka, Hanna, Kuchar, Ernest

Get full text

Prediction of Neurodevelopment in Infants With Tuberous Sclerosis Complex Using Early EEG Characteristics by De Ridder, Jessie, Lavanga, Mario, Verhelle, Birgit, Vervisch, Jan, Lemmens, Katrien, Kotulska, Katarzyna, Moavero, Romina, Curatolo, Paolo, Weschke, Bernhard, Riney, Kate, Feucht, Martha, Krsek, Pavel, Nabbout, Rima, Jansen, Anna C., Wojdan, Konrad, Domanska-Pakieła, Dorota, Kaczorowska-Frontczak, Magdalena, Hertzberg, Christoph, Ferrier, Cyrille H., Samueli, Sharon, Benova, Barbora, Aronica, Eleonora, Kwiatkowski, David J., Jansen, Floor E., Jóźwiak, Sergiusz, Van Huffel, Sabine, Lagae, Lieven

Get full text

Antiepileptogenesis and disease modification: Clinical and regulatory issues by French, Jacqueline A., Bebin, Martina, Dichter, Marc A., Engel, Jerome, Hartman, Adam L., Jóźwiak, Sergiusz, Klein, Pavel, McNamara, James, Twyman, Roy, Vespa, Paul

Get full text

Safety and Tolerability of Adjunctive Eslicarbazepine Acetate in Pediatric Patients (Aged 4-17 Years) With Focal Seizures by Mintz, Mark, Pina-Garza, Jesus E., Wolf, Steven M., McGoldrick, Patricia E., Józwiak, Sergiusz, Grinnell, Todd, Cantu, David, Costa, Raquel, Moreira, Joana, Li, Yan, Blum, David

Get full text

WONOEP appraisal: Development of epilepsy biomarkers—What we can learn from our patients? by Jozwiak, Sergiusz, Becker, Albert, Cepeda, Carlos, Engel, Jerome, Gnatkovsky, Vadym, Huberfeld, Gilles, Kaya, Mehmet, Kobow, Katja, Simonato, Michele, Loeb, Jeffrey A.

Get full text

Author Correction: Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment by Mills, James D., Iyer, Anand M., van Scheppingen, Jackelien, Bongaarts, Anika, Anink, Jasper J., Janssen, Bart, Zimmer, Till S., Spliet, Wim G., van Rijen, Peter C., Jansen, Floor E., Feucht, Martha, Hainfellner, Johannes A., Krsek, Pavel, Zamecnik, Josef, Kotulska, Katarzyna, Jozwiak, Sergiusz, Jansen, Anna, Lagae, Lieven, Curatolo, Paolo, Kwiatkowski, David J., Pasterkamp, R. Jeroen, Senthilkumar, Ketharini, von Oerthel, Lars, Hoekman, Marco F., Gorter, Jan A., Crino, Peter B., Mühlebner, Angelika, Scicluna, Brendon P., Aronica, Eleonora

Get full text

Distinct DNA Methylation Patterns of Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex by Bongaarts, Anika, Mijnsbergen, Caroline, Anink, Jasper J., Jansen, Floor E., Spliet, Wim G. M., den Dunnen, Wilfred F. A., Coras, Roland, Blümcke, Ingmar, Paulus, Werner, Gruber, Victoria E., Scholl, Theresa, Hainfellner, Johannes A., Feucht, Martha, Kotulska, Katarzyna, Jozwiak, Sergiusz, Grajkowska, Wieslawa, Buccoliero, Anna Maria, Caporalini, Chiara, Giordano, Flavio, Genitori, Lorenzo, Söylemezoğlu, Figen, Pimentel, José, Jones, David T. W., Scicluna, Brendon P., Schouten-van Meeteren, Antoinette Y. N., Mühlebner, Angelika, Mills, James D., Aronica, Eleonora

Get full text

Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey by Amin, Sam, Møller, Rikke S., Aledo‐Serrano, Angel, Arzimanoglou, Alexis, Bager, Patrick, Jóźwiak, Sergiusz, Kluger, Gerhard Josef, López‐Cabeza, Sandra, Nabbout, Rima, Partridge, Carol‐Anne, Schubert‐Bast, Susanne, Specchio, Nicola, Kälviäinen, Reetta

Get full text

Subependymal Giant Cell Astrocytoma Tumors in Patients Without Clinical Manifestation of Tuberous Sclerosis Complex: A Diagnostic Puzzle by Zabielska, Bernadeta, Rzewuska, Natalia, Jóźwiak, Sergiusz

Get full text

TOSCA - first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex by Kingswood, John C, Bruzzi, Paolo, Curatolo, Paolo, de Vries, Petrus J, Fladrowski, Carla, Hertzberg, Christoph, Jansen, Anna C, Jozwiak, Sergiusz, Nabbout, Rima, Sauter, Matthias, Touraine, Renaud, O'Callaghan, Finbar, Zonnenberg, Bernard, Crippa, Stefania, Comis, Silvia, d'Augères, Guillaume Beaure, Belousova, Elena, Carter, Tom, Cottin, Vincent, Dahlin, Maria, Ferreira, José Carlos, Macaya, Alfons, Benedik, Mirjana Perkovic, Sander, Valentin, Youroukos, Sotirios, Castellana, Ramon, Ulker, Bulent, Feucht, Martha

Get full text

Subependymal Giant Cell Astrocytoma Tumors in Patients Without Clinical Manifestation of Tuberous Sclerosis Complex: A Diagnostic Puzzle by Zabielska, Bernadeta, Rzewuska, Natalia, Jóźwiak, Sergiusz

Get full text

Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas by Kingswood, J. Chris, Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D'Amato, Lisa, Beaure d'Augères, Guillaume, de Vries, Petrus J., Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Jansen, Anna C., Sauter, Matthias

Get full text