1
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
2
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
3
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
4
TITLE: Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence  Full Text
AUTHORS: Elaine A Dunlop; Kayleigh M Dodd; Stephen C Land; Peter A Davies; Nicole Martins; Helen Stuart; Shane McKee; Chris Kingswood; Anand Saggar; Isabel Corderio; Ana Maria Duarte Medeira; Helen Kingston; Julian R Sampson; David Mark Davies; Andrew R Tee;
PUBLISHED: 2011, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 19, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef