Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly

by Katrien Stouffs, Katrien Stouffs, Patrick Verloo, Stefanie Brock, Stefanie Brock, Luc Régal, Diane Beysen, Berten Ceulemans, Anna C. Jansen, Anna C. Jansen, Marije E.C. Meuwissen, Marije E.C. Meuwissen
Published 2020-02-01

A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report

by Stéphane Auvin, John J. Bissler, Vincent Cottin, Ayataka Fujimoto, Günther F. L. Hofbauer, Anna C. Jansen, Sergiusz Jóźwiak, Larissa Kerecuk, J. Christopher Kingswood, Romina Moavero, Roser Torra, Vicente Villanueva
Published 2019-04-01

mTOR-related neuropathology in mutant tsc2 zebrafish: Phenotypic, transcriptomic and pharmacological analysis

by Chloë Scheldeman, James D. Mills, Aleksandra Siekierska, Ines Serra, Daniëlle Copmans, Anand M. Iyer, Benjamin J. Whalley, Jan Maes, Anna C. Jansen, Lieven Lagae, Eleonora Aronica, Peter A.M. de Witte
Published 2017-12-01

A focused 35-minute whole body MRI screening protocol for patients with von Hippel-Lindau disease

by Anne-Marie Vanbinst, Carola Brussaard, Evelynn Vergauwen, Vera Van Velthoven, Robert Kuijpers, Olaf Michel, Ina Foulon, Anna C. Jansen, Bieke Lefevere, Susanne Bohler, Kathelijn Keymolen, Johan de Mey, Dirk Michielsen, Corina E. Andreescu, Sven Gläsker
Published 2019-07-01

Central nervous system gadolinium accumulation in patients undergoing periodical contrast MRI screening for hereditary tumor syndromes

by Evelynn Vergauwen, Anne-Marie Vanbinst, Carola Brussaard, Peter Janssens, Dieter De Clerck, Michel Van Lint, Anne C. Houtman, Olaf Michel, Kathelijn Keymolen, Bieke Lefevere, Susanne Bohler, Dirk Michielsen, Anna C. Jansen, Vera Van Velthoven, Sven Gläsker
Published 2018-01-01

Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study

by Anna C. Jansen, Anna C. Jansen, Stephanie Vanclooster, Petrus J. de Vries, Carla Fladrowski, Carla Fladrowski, Guillaume Beaure d'Augères, Tom Carter, Elena Belousova, Mirjana P. Benedik, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, José C. Ferreira, Martha Feucht, Christoph Hertzberg, Sergiusz Jozwiak, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Ruben Marques, Rima Nabbout, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, J. Chris Kingswood
Published 2020-08-01

Empowering Families Through Technology: A Mobile-Health Project to Reduce the TAND Identification and Treatment Gap (TANDem)

by Tosca-Marie Heunis, Stacey Bissell, Anna W. Byars, Jamie K. Capal, Nola Chambers, Sebastián Cukier, Peter E. Davis, Liesbeth De Waele, Liesbeth De Waele, Jennifer Flinn, Sugnet Gardner-Lubbe, Tanjala Gipson, Tanjala Gipson, J. Christopher Kingswood, J. Christopher Kingswood, Darcy A. Krueger, Darcy A. Krueger, Aubrey J. Kumm, Mustafa Sahin, Mustafa Sahin, Eva Schoeters, Eva Schoeters, Catherine Smith, Shoba Srivastava, Megumi Takei, Stephanie Vanclooster, Agnies M. van Eeghen, Agnies M. van Eeghen, Robert Waltereit, Anna C. Jansen, Anna C. Jansen, Petrus J. de Vries
Published 2022-02-01

Correction: Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM

by Annelieke R. Müller, Michiel A. J. Luijten, Lotte Haverman, Wendela L. de Ranitz-Greven, Peter Janssens, André B. Rietman, Leontine W.ten Hoopen, Laura C. G. de Graaff, Marie-Claire de Wit, Anna C. Jansen, Tanjala Gipson, Jamie K. Capal, Petrus J. de Vries, Agnies M. van Eeghen
Published 2023-10-01

Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM

by Annelieke R. Müller, Michiel A. J. Luijten, Lotte Haverman, Wendela L. de Ranitz-Greven, Peter Janssens, André B. Rietman, Leontine W. ten Hoopen, Laura C. G. de Graaff, Marie-Claire de Wit, Anna C. Jansen, Tanjala Gipson, Jamie K. Capal, Petrus J. de Vries, Agnies M. van Eeghen
Published 2023-08-01

Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?

by Romina Moavero, Katarzyna Kotulska, Lieven Lagae, Arianna Benvenuto, Leonardo Emberti Gialloreti, Bernhard Weschke, Kate Riney, Martha Feucht, Pavel Krsek, Rima Nabbout, Anna C. Jansen, Konrad Wojdan, Julita Borkowska, Krzysztof Sadowski, Christoph Hertzberg, Monique M. Van Schooneveld, Sharon Samueli, Alice Maulisovà, Eleonora Aronica, David J. Kwiatkowski, Floor E. Jansen, Sergiusz Jozwiak, Paolo Curatolo, the EPISTOP Consortium
Published 2020-08-01

Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study

by Romina Moavero, Arianna Benvenuto, Leonardo Emberti Gialloreti, Martina Siracusano, Katarzyna Kotulska, Bernhard Weschke, Kate Riney, Floor E. Jansen, Martha Feucht, Pavel Krsek, Rima Nabbout, Anna C. Jansen, Konrad Wojdan, Julita Borkowska, Krzystof Sadowski, Christoph Hertzberg, Hanna Hulshof, Sharon Samueli, Barbora Benova, Eleonora Aronica, David J. Kwiatkowski, Lieven Lagae, Sergiusz Jozwiak, Paolo Curatolo, on behalf of the EPISTOP Consortium
Published 2019-06-01

The research landscape of tuberous sclerosis complex–associated neuropsychiatric disorders (TAND)—a comprehensive scoping review

by Stephanie Vanclooster, Stacey Bissell, Agnies M. van Eeghen, Nola Chambers, Liesbeth De Waele, Anna W. Byars, Jamie K. Capal, Sebastián Cukier, Peter Davis, Jennifer Flinn, Sugnet Gardner-Lubbe, Tanjala Gipson, Tosca-Marie Heunis, Dena Hook, J. Christopher Kingswood, Darcy A. Krueger, Aubrey J. Kumm, Mustafa Sahin, Eva Schoeters, Catherine Smith, Shoba Srivastava, Megumi Takei, Robert Waltereit, Anna C. Jansen, Petrus J. de Vries
Published 2022-02-01

International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)

by Petrus J. de Vries, Tosca-Marie Heunis, Stephanie Vanclooster, Nola Chambers, Stacey Bissell, Anna W. Byars, Jennifer Flinn, Tanjala T. Gipson, Agnies M. van Eeghen, Robert Waltereit, Jamie K. Capal, Sebastián Cukier, Peter E. Davis, Catherine Smith, J. Chris Kingswood, Eva Schoeters, Shoba Srivastava, Megumi Takei, Sugnet Gardner-Lubbe, Aubrey J. Kumm, Darcy A. Krueger, Mustafa Sahin, Liesbeth De Waele, Anna C. Jansen
Published 2023-09-01

miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex

by Mirte Scheper, Alessia Romagnolo, Zein Mersini Besharat, Anand M. Iyer, Romina Moavero, Christoph Hertzberg, Bernhard Weschke, Kate Riney, Martha Feucht, Theresa Scholl, Borivoj Petrak, Alice Maulisova, Rima Nabbout, Anna C. Jansen, Floor E. Jansen, Lieven Lagae, Malgorzata Urbanska, Elisabetta Ferretti, Aleksandra Tempes, Magdalena Blazejczyk, Jacek Jaworski, David J. Kwiatkowski, Sergiusz Jozwiak, Katarzyna Kotulska, Krzysztof Sadowski, Julita Borkowska, Paolo Curatolo, James D. Mills, Eleonora Aronica, EPISTOP Consortium Members
Published 2022-07-01

The TOSCA Registry for Tuberous Sclerosis—Lessons Learnt for Future Registry Development in Rare and Complex Diseases

by Ruben Marques, Ruben Marques, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume Beaure d'Augères, Petrus J. de Vries, José C. Ferreira, Martha Feucht, Carla Fladrowski, Carla Fladrowski, Christoph Hertzberg, Anna C. Jansen, Sergiusz Jozwiak, Sergiusz Jozwiak, John C. Kingswood, John A. Lawson, Alfons Macaya, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Rima Nabbout
Published 2019-11-01

Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

by Anna C. Jansen, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume Beaure d'Augères, Petrus J. de Vries, José C. Ferreira, Martha Feucht, Carla Fladrowski, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Ruben Marques, Rima Nabbout, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, John C. Kingswood
Published 2019-07-01

Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study

by Anna C. Jansen, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Lisa D'Amato, Guillaume Beaure d'Augères, Petrus J. de Vries, José C. Ferreira, Martha Feucht, Carla Fladrowski, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Ruben Marques, Rima Nabbout, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, John C. Kingswood
Published 2019-08-01

Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project

by Petrus J. de Vries, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Lisa D’Amato, Guillaume Beure d’Augères, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, J. Chris Kingswood, Anna C. Jansen, on behalf of TOSCA Consortium and TOSCA Investigators
Published 2020-09-01

Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period

by 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
Published 2022-01-01

TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

by Petrus J. de Vries, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D’Amato, Guillaume B. d’Augères, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, J. Chris Kingswood, John A. Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C. Jansen, on behalf of TOSCA Consortium and TOSCA Investigators
Published 2018-09-01