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Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation

Authors

  • M Frasquet Neuromuscular Research Unit, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia, Spain Department of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain PubMed articlesGoogle scholar articles
  • M J Chumillas Neuromuscular Research Unit, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain Department of Clinical Neurophysiology, Hospital Universitari i Politècnic La Fe, Valencia, Spain PubMed articlesGoogle scholar articles
  • J J Vílchez Neuromuscular Research Unit, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia, Spain Department of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain Department of Medicine, University of Valencia, Valencia, Spain PubMed articlesGoogle scholar articles
  • C Márquez-Infante Department of Neurology, Hospital Universitario Virgen del Rocío, Seville, Spain PubMed articlesGoogle scholar articles
  • F Palau Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain Program in Rare and Genetic Diseases and IBV/CSIC Associated Unit, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain Department of Genetic and Molecular Medicine, Instituto Pediátrico de Enfermedades Raras (IPER), and Institut de Recerca Pediàtrica, Hospital Sant Joan de Déu, Barcelona, Spain Department of Pediatrics, University of Barcelona, Barcelona, Spain PubMed articlesGoogle scholar articles
  • J F Vázquez-Costa Neuromuscular Research Unit, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia, Spain Department of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain PubMed articlesGoogle scholar articles
  • V Lupo Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain Program in Rare and Genetic Diseases and IBV/CSIC Associated Unit, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain PubMed articlesGoogle scholar articles
  • C Espinós Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain Program in Rare and Genetic Diseases and IBV/CSIC Associated Unit, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain PubMed articlesGoogle scholar articles
  • T Sevilla Neuromuscular Research Unit, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia, Spain Department of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain Department of Medicine, University of Valencia, Valencia, Spain PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Teresa Sevilla, Department of Neurology, Hospital Universitari i Politècnic La Fe, Avenida Fernando Abril Martorell 106, Valencia 46026, Spain; sevilla_ter{at}gva.es
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Citation

Frasquet M, Chumillas MJ, Vílchez JJ, et al
Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation
Journal of Neurology, Neurosurgery & Psychiatry 2016;87:1265-1268.

Publication history

  • Received December 10, 2015
  • Revised February 18, 2016
  • Accepted March 29, 2016
  • First published April 15, 2016.
Online issue publication 
October 13, 2016

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