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A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke.
Greisenegger, Elli Katharine; Llufriu, Sara; Chamorro, Angel; Cervera, Alvaro; Jimenez-Escrig, Adriano; Rappersberger, Klemens; Marik, Wolfgang; Greisenegger, Stefan; Stögmann, Elisabeth; Kopp, Tamara; Strom, Tim M; Henes, Jörg; Joutel, Anne; Zimprich, Alexander.
Afiliação
  • Greisenegger EK; Department of Dermatology and Venereology, University Hospital of St. Pölten, Karl Landsteiner University of Health Sciences, St. Pölten, Austria.
  • Llufriu S; Department of Neurology, Medical University of Vienna, Währinger Gürtel 18-20, 1090, Vienna, Austria.
  • Chamorro A; Laboratory of Advanced Imaging in Neuroimmunological Diseases, Center of Neuroimmunology, Hospital Clinic Barcelona, IDIBAPS and Universitat de Barcelona, Barcelona, Spain.
  • Cervera A; Department of Neuroscience, Comprehensive Stroke Center, Hospital Clinic Barcelona, Barcelona, Spain.
  • Jimenez-Escrig A; Institure Investigacions Biomèdicas August Pi I Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, Spain.
  • Rappersberger K; Royal Darwin Hospital, Darwin, NT, Australia.
  • Marik W; Department of Neurology, Hospital Ramon Y Cajal, 28034, Madrid, Spain.
  • Greisenegger S; Department of Dermatology, Rudolfstiftung Hospital, Vienna, Austria.
  • Stögmann E; Division of Neuroradiology and Musculoskeletal Radiology, Department of Biomedical Imaging and Image-Guided Therapy, Medical University of Vienna, Vienna, Austria.
  • Kopp T; Department of Neurology, Medical University of Vienna, Währinger Gürtel 18-20, 1090, Vienna, Austria.
  • Strom TM; Department of Neurology, Medical University of Vienna, Währinger Gürtel 18-20, 1090, Vienna, Austria.
  • Henes J; Juvenis Medical Center, 1010, Vienna, Austria.
  • Joutel A; Institute of Human Genetics, Technical University Munich, Munich, Germany.
  • Zimprich A; Department of Internal Medicine II (Hematology, Oncology, Rheumatology and Clinical Immunology), Centre for Interdisciplinary Clinical Rheumatology and Immunology, Eberhard Karls-University Tuebingen, Tübingen, Germany.
J Neurol ; 268(3): 810-816, 2021 Mar.
Article em En | MEDLINE | ID: mdl-32980981

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Sneddon / Acidente Vascular Cerebral / Receptor Notch3 Tipo de estudo: Prognostic_studies Limite: Adult / Child / Humans Idioma: En Revista: J Neurol Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Áustria

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Sneddon / Acidente Vascular Cerebral / Receptor Notch3 Tipo de estudo: Prognostic_studies Limite: Adult / Child / Humans Idioma: En Revista: J Neurol Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Áustria