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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
22
TITLE: Green Infrastructure Planning Principles: An Integrated Literature Review
AUTHORS: Monteiro, R; Ferreira, JC; Antunes, P;
PUBLISHED: 2020, SOURCE: LAND, VOLUME: 9, ISSUE: 12
INDEXED IN: Scopus WOS
23
TITLE: International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up  Full Text
AUTHORS: Ruqaiah Altassan; Romain Peanne; Jaak Jaeken; Rita Barone; Muad Bidet; Delphine Borgel; Sandra Brasil; David Cassiman; Anna Cechova; David Coman; Javier Corral; Joana Correia; Maria Eugenia de la Morena Barrio; Pascale de Lonlay; Vanessa Dos Reis; Carlos R Ferreira; Agata Fiumara; Rita Francisco; Hudson Freeze; Simone Funke; Thatjana Gardeitchik; Matthijs Gert; Muriel Girad; Marisa Giros; Stephanie Gruenewald; Trinidad Hernandez Caselles; Tomas Honzik; Marlen Hutter; Donna Krasnewich; Christina Lam; Joy Lee; Dirk Lefeber; Dorinda Marques de Silva; Antonio F Martinez; Hossein Moravej; Katrin Ounap; Carlota Pascoal; Tiffany Pascreau; Marc Patterson; Dulce Quelhas; Kimiyo Raymond; Peymaneh Sarkhail; Manuel Schiff; Malgorzata Seroczynska; Mercedes Serrano; Nathalie Seta; Jolanta Sykut Cegielska; Christian Thiel; Federic Tort; Mari Anne Vals; Paula Videira; Peter Witters; Renate Zeevaert; Eva Morava; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 42, ISSUE: 1
INDEXED IN: Scopus WOS
24
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
25
TITLE: Recognizable phenotypes in CDG
AUTHORS: Ferreira, CR; Altassan, R; Marques da Silva, D; Francisco, R; Jaeken, J; Morava, E;
PUBLISHED: 2018, SOURCE: Journal of Inherited Metabolic Disease
INDEXED IN: Scopus
26
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
27
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
28
TITLE: TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients  Full Text
AUTHORS: John C Kingswood; Guillaume B d'Augeres; Elena Belousova; Jose C Ferreira; Tom Carter; Ramon Castellana; Vincent Cottin; Paolo Curatolo; Maria Dahlin; Petrus J de Vries; Martha Feucht; Carla Fladrowski; Gabriella Gislimberti; Christoph Hertzberg; Sergiusz Jozwiak; John A Lawson; Alfons Macaya; Rima Nabbout; Finbar O'Callaghan; Mirjana P Benedik; Jiong Qin; Ruben Marques; Valentin Sander; Matthias Sauter; Yukitoshi Takahashi; Renaud Touraine; Sotiris Youroukos; Bernard Zonnenberg; Anna C Jansen; ...More
PUBLISHED: 2017, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 12
INDEXED IN: WOS
29
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: TSC-ASSOCIATED NEUROPSYCHIATRIC DISORDERS (TAND): BASELINE DATA FROM THE TOSCA INTERNATIONAL DISEASE REGISTRY  Full Text
AUTHORS: de Vries, PJ; D'Augeres, GB; Belousova, E; Carter, T; Castellana, R; Cottin, V; Crippa, S; Curatolo, P; Ferreira, JC; Fladrowski, C; Feucht, M; Gislimberti, G; Hertzberg, C; Qin, J; Jozwiak, S; Kingswood, JC; Lawson, J; Macaya, A; Nabbout, R; O'Callaghan, F; Benedik, MP; Sander, V; Sauter, M; Takahashi, Y; Touraine, R; Youroukos, S; Ulker, B; Zonnenberg, B; Jansen, A; ...More
PUBLISHED: 2015, SOURCE: JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, VOLUME: 59, ISSUE: 9
INDEXED IN: WOS
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