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Neurogenetics
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A novel mutation in the GFAP gene expands the phenotype of Alexander disease

Authors

  • Carlos Casasnovas Neuromuscular Unit, Neurology Department, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat (Barcelona), Catalonia, Spain Neurometabolic Diseases Laboratory, Institut d'Investigacio Biomedica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat (Barcelona), Catalonia, Spain Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Edgard Verdura Neurometabolic Diseases Laboratory, Institut d'Investigacio Biomedica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat (Barcelona), Catalonia, Spain Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Valentina Vélez Neuromuscular Unit, Neurology Department, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat (Barcelona), Catalonia, Spain Neurometabolic Diseases Laboratory, Institut d'Investigacio Biomedica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat (Barcelona), Catalonia, Spain PubMed articlesGoogle scholar articles
  • Agatha Schlüter Neurometabolic Diseases Laboratory, Institut d'Investigacio Biomedica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat (Barcelona), Catalonia, Spain Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Albert Pons-Escoda Neuroradiology Unit, Institut de Diagnòstic per la Imatge-IDI, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat (Barcelona), Catalonia, Spain PubMed articlesGoogle scholar articles
  • Christian Homedes Neuromuscular Unit, Neurology Department, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat (Barcelona), Catalonia, Spain PubMed articlesGoogle scholar articles
  • Montserrat Ruiz Neurometabolic Diseases Laboratory, Institut d'Investigacio Biomedica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat (Barcelona), Catalonia, Spain Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Stéphane Fourcade Neurometabolic Diseases Laboratory, Institut d'Investigacio Biomedica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat (Barcelona), Catalonia, Spain Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Nathalie Launay Neurometabolic Diseases Laboratory, Institut d'Investigacio Biomedica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat (Barcelona), Catalonia, Spain Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Aurora Pujol Neurometabolic Diseases Laboratory, Institut d'Investigacio Biomedica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat (Barcelona), Catalonia, Spain Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Catalonia, Spain PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Aurora Pujol, Neurometabolic Diseases Laboratory, Institut d'Investigacio Biomedica de Bellvitge, L'Hospitalet de Llobregat 08908, Spain; apujol{at}idibell.cat
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Citation

Casasnovas C, Verdura E, Vélez V, et al
A novel mutation in the GFAP gene expands the phenotype of Alexander disease
Journal of Medical Genetics 2019;56:846-849.

Publication history

  • Received December 20, 2018
  • Revised March 21, 2019
  • Accepted March 29, 2019
  • First published April 19, 2019.
Online issue publication 
November 27, 2019

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© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.