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Original research
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2

Authors

  • Laura Castilla-Vallmanya Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain Institut de Recerca Sant Joan de Déu, Espluques de Llobregat, Barcelona, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Mónica Centeno-Pla Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain Institut de Recerca Sant Joan de Déu, Espluques de Llobregat, Barcelona, Spain Clinical Biochemistry Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Mercedes Serrano Institut de Recerca Sant Joan de Déu, Espluques de Llobregat, Barcelona, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain Neurology Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Héctor Franco-Valls Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Raúl Martínez-Cabrera Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Aina Prat-Planas Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain Institut de Recerca Sant Joan de Déu, Espluques de Llobregat, Barcelona, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Elena Rojano Department of Molecular Biology and Biochemistry; Institute of Biomedical Research in Málaga (IBIMA), University of Málaga, Málaga, Spain PubMed articlesGoogle scholar articles
  • Juan A G Ranea Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain Department of Molecular Biology and Biochemistry; Institute of Biomedical Research in Málaga (IBIMA), University of Málaga, Málaga, Spain PubMed articlesGoogle scholar articles
  • Pedro Seoane Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain Department of Molecular Biology and Biochemistry; Institute of Biomedical Research in Málaga (IBIMA), University of Málaga, Málaga, Spain PubMed articlesGoogle scholar articles
  • Clara Oliva Institut de Recerca Sant Joan de Déu, Espluques de Llobregat, Barcelona, Spain Clinical Biochemistry Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Abraham J Paredes-Fuentes Institut de Recerca Sant Joan de Déu, Espluques de Llobregat, Barcelona, Spain Clinical Biochemistry Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Gemma Marfany Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain Institut de Recerca Sant Joan de Déu, Espluques de Llobregat, Barcelona, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Rafael Artuch Institut de Recerca Sant Joan de Déu, Espluques de Llobregat, Barcelona, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain Clinical Biochemistry Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Daniel Grinberg Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain Institut de Recerca Sant Joan de Déu, Espluques de Llobregat, Barcelona, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Raquel Rabionet Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain Institut de Recerca Sant Joan de Déu, Espluques de Llobregat, Barcelona, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Susanna Balcells Department of Genetics, Microbiology and Statistics, IBUB, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain Institut de Recerca Sant Joan de Déu, Espluques de Llobregat, Barcelona, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Roser Urreizti Institut de Recerca Sant Joan de Déu, Espluques de Llobregat, Barcelona, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instiuto de Salud Carlos III, Madrid, Spain Clinical Biochemistry Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Roser Urreizti, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28029, Spain; roserurreizti{at}gmail.com
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Citation

Castilla-Vallmanya L, Centeno-Pla M, Serrano M, et al
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2

Publication history

  • Received May 9, 2022
  • Accepted July 27, 2022
  • First published September 7, 2022.

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