Your browser doesn't support javascript.
loading
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.
Ogórek, Barbara; Hamieh, Lana; Hulshof, Hanna M; Lasseter, Kathryn; Klonowska, Katarzyna; Kuijf, Hugo; Moavero, Romina; Hertzberg, Christoph; Weschke, Bernhard; Riney, Kate; Feucht, Martha; Scholl, Theresa; Krsek, Pavel; Nabbout, Rima; Jansen, Anna C; Benova, Barbora; Aronica, Eleonora; Lagae, Lieven; Curatolo, Paolo; Borkowska, Julita; Sadowski, Krzysztof; Domanska-Pakiela, Dorota; Janson, Stef; Kozlowski, Piotr; Urbanska, Malgorzata; Jaworski, Jacek; Jozwiak, Sergiusz; Jansen, Floor E; Kotulska, Katarzyna; Kwiatkowski, David J.
Afiliação
  • Ogórek B; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
  • Hamieh L; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
  • Hulshof HM; Department of Child Neurology, Brain Center University Medical Center Utrecht, Utrecht, The Netherlands.
  • Lasseter K; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
  • Klonowska K; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
  • Kuijf H; Image Sciences Institute, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Moavero R; Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University, Rome, Italy.
  • Hertzberg C; Child Neurology Unit, Neuroscience and Neurorehabilitation Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Weschke B; Diagnose- und Behandlungszentrum für Kinder, Vivantes-Klinikum Neukölln, Berlin, Germany.
  • Riney K; Department of Child Neurology, Charité University Medicine Berlin, Berlin, Germany.
  • Feucht M; Neurosciences Unit, Queensland Children's Hospital, South Brisbane, Queensland, Australia/School of Medicine, University of Queensland, St Lucia, Queensland, Australia.
  • Scholl T; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna; "Affiliated Partner of ERN EpiCARE", Vienna, Austria.
  • Krsek P; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna; "Affiliated Partner of ERN EpiCARE", Vienna, Austria.
  • Nabbout R; Motol University Hospital, Charles University, Prague, Czech Republic.
  • Jansen AC; Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Necker-Enfants Malades Hospital, University Paris Descartes, Imagine Institute, Paris, France.
  • Benova B; Pediatric Neurology Unit, UZ Brussel, Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium.
  • Aronica E; Motol University Hospital, Charles University, Prague, Czech Republic.
  • Lagae L; Amsterdam UMC, University of Amsterdam, Department of (Neuro)Pathology, Amsterdam Neuroscience, Amsterdam, The Netherlands.
  • Curatolo P; Stichting Epilepsie Instellingen Nederland (SEIN), Heemstede the Netherlands, Utrecht, The Netherlands.
  • Borkowska J; Department of Development and Regeneration Section Pediatric Neurology, University Hospitals KU Leuven, Leuven, Belgium.
  • Sadowski K; Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University, Rome, Italy.
  • Domanska-Pakiela D; Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland.
  • Janson S; Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland.
  • Kozlowski P; Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland.
  • Urbanska M; GenomeScan, Leiden, The Netherlands.
  • Jaworski J; Department of Molecular Genetics, Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland.
  • Jozwiak S; Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland.
  • Jansen FE; International Institute of Molecular and Cell Biology, Warsaw, Poland.
  • Kotulska K; Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland.
  • Kwiatkowski DJ; Department of Child Neurology, Brain Center University Medical Center Utrecht, Utrecht, The Netherlands.
Genet Med ; 22(9): 1489-1497, 2020 09.
Article em En | MEDLINE | ID: mdl-32461669
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esclerose Tuberosa Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Humans / Infant Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esclerose Tuberosa Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Humans / Infant Idioma: En Ano de publicação: 2020 Tipo de documento: Article