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TITLE: Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas  Full Text
AUTHORS: Chris C Kingswood; Elena Belousova; Mirjana P Benedik; Tom Carter; Vincent Cottin; Paolo Curatolo; Maria Dahlin; Lisa D'Amato; Guillaume B Beaure D'Augeres; Petrus J de Vries; Jose 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; Seema Shah; Yukitoshi Takahashi; Renaud Touraine; Sotiris Youroukos; Bernard Zonnenberg; Anna C Jansen; Matthias Sauter; ...More
PUBLISHED: 2020, SOURCE: FRONTIERS IN NEUROLOGY, VOLUME: 11
INDEXED IN: Scopus WOS
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TITLE: Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness
AUTHORS: Chris C Kingswood; Elena Belousova; Mirjana P Benedik; Tom Carter; Vincent Cottin; Paolo Curatolo; Maria Dahlin; Lisa D' Amato; Guillaume Beaure d'Augeres; Petrus J de Vries; Jose 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; Anna C Jansen; ...More
PUBLISHED: 2019, SOURCE: NEPHROLOGY DIALYSIS TRANSPLANTATION, VOLUME: 34, ISSUE: 3
INDEXED IN: WOS
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TITLE: Effects of adjunctive eslicarbazepine acetate on neurocognitive functioning in children with refractory focal-onset seizures  Full Text
AUTHORS: Sergiusz Jozwiak; Veggiotti, P; Moreira, J; Gama, H; Rocha, F ; Soares da Silva, P;
PUBLISHED: 2018, SOURCE: EPILEPSY & BEHAVIOR, VOLUME: 81
INDEXED IN: WOS
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TITLE: TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study  Full Text
AUTHORS: Petrus J de Vries; Elena Belousova; Mirjana P Benedik; Tom Carter; Vincent Cottin; Paolo Curatolo; Maria Dahlin; Lisa D'Amato; Guillaume B d'Augeres; Jose C Ferreira; Martha Feucht; Carla Fladrowski; Christoph Hertzberg; Sergiusz Jozwiak; Chris C 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; ...More
PUBLISHED: 2018, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 13
INDEXED IN: WOS
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TITLE: Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations  Full Text
AUTHORS: Paolo Curatolo; Rima Nabbout; Lieven Lagae; Eleonora Aronica; Jose Carlos Ferreira; Martha Feucht; Christoph Hertzberg; Anna C Jansen; Floor Jansen; Katarzyna Kotulska; Romina Moavero; Finbar O'Callaghan; Antigone Papavasiliou; Michal Tzadok; Sergiusz Jozwiak;
PUBLISHED: 2018, SOURCE: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, VOLUME: 22, ISSUE: 5
INDEXED IN: WOS
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TITLE: Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations
AUTHORS: Anika Bongaarts; Krinio Giannikou; Roy J Reinten; Jasper J Anink; James D Mills; Floor E Jansen; Wim G M Spliet; Willfred F A den Dunnen; Roland Coras; Ingmar Bluemcke; Werner Paulus; Theresa Scholl; Martha Feucht; Katarzyna Kotulska; Sergiusz Jozwiak; Anna Maria Buccoliero; Chiara Caporalini; Flavio Giordano; Lorenzo Genitori; Figen Soylemezoglu; Jose Pimentel; Mark Nellist; Antoinette Y N Schouten van Meeteren; Anwesha Nag; Angelika Muhlebner; David J Kwiatkowski; Eleonora Aronica; ...More
PUBLISHED: 2017, SOURCE: ONCOTARGET, VOLUME: 8, ISSUE: 56
INDEXED IN: Scopus WOS
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TITLE: The Role of mTOR Inhibitors in the Treatment of Patients with Tuberous Sclerosis Complex: Evidence-based and Expert Opinions  Full Text
AUTHORS: Paolo Curatolo; Marit Bjornvold; Patricia E Dill; Jose Carlos Ferreira; Martha Feucht; Christoph Hertzberg; Anna Jansen; Sergiusz Jozwiak; Christopher C Kingswood; Katarzyna Kotulska; Alfons Macaya; Romina Moavero; Rima Nabbout; Bernard A Zonnenberg;
PUBLISHED: 2016, SOURCE: DRUGS, VOLUME: 76, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
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TITLE: TOSCA - first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex  Full Text
AUTHORS: John C Kingswood; Paolo Bruzzi; Paolo Curatolo; Petrus J de Vries; Carla Fladrowski; Christoph Hertzberg; Anna C Jansen; Sergiusz Jozwiak; Rima Nabbout; Matthias Sauter; Renaud Touraine; Finbar O'Callaghan; Bernard Zonnenberg; Stefania Crippa; Silvia Comis; Guillaume Beaure d'Augeres; Elena Belousova; Tom Carter; Vincent Cottin; Maria Dahlin; Jose Carlos Ferreira; Alfons Macaya; Mirjana Perkovic Benedik; Valentin Sander; Sotirios Youroukos; Ramon Castellana; Bulent Ulker; Martha Feucht; ...More
PUBLISHED: 2014, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 9, ISSUE: 1
INDEXED IN: WOS CrossRef