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Neuromuscular
Research paper
A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity

Authors

  • Maya Tchikviladzé Department of Neurology, AP-HP, GHU Pitié-Salpêtrière, Paris, France INSERM CIC9503, GHU Pitié-Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Mylène Gilleron INSERM U1016, Institut Cochin; CNRS UMR 8104, Paris, France Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, AP-HP, GHU Pitié-Salpêtrière, Paris, France UPMC Univ Paris 06, UMR_S975, Paris, France PubMed articlesGoogle scholar articles
  • Thierry Maisonobe Department of Neurophysiology and Neuropathology, AP-HP, GHU Pitié-Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Damien Galanaud Department of Neuroradiology, AP-HP, GHU Pitié-Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Pascal Laforêt AP-HP, Centre de Référence de pathologie neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Alexandra Durr UPMC Univ Paris 06, UMR_S975, Paris, France Department of Genetics, AP-HP, GHU Pitié-Salpêtrière, Paris, France INSERM UMR_S975, CRICM; CNRS UMR 7225, Paris, France ICM (Brain and Spine Institute) GH Pitié-Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Bruno Eymard UPMC Univ Paris 06, UMR_S975, Paris, France AP-HP, Centre de Référence de pathologie neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Paris, France INSERM UMR_S975, CRICM; CNRS UMR 7225, Paris, France PubMed articlesGoogle scholar articles
  • Fanny Mochel Department of Genetics, AP-HP, GHU Pitié-Salpêtrière, Paris, France INSERM UMR_S975, CRICM; CNRS UMR 7225, Paris, France Neurometabolic Unit, AP-HP, GH Pitié-Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Hélène Ogier AP-HP, Maladies héréditaires du métabolisme, GH Robert Debré, Paris, France PubMed articlesGoogle scholar articles
  • Anthony Béhin AP-HP, Centre de Référence de pathologie neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Tanya Stojkovic AP-HP, Centre de Référence de pathologie neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Bertrand Degos Department of Neurology, AP-HP, GHU Pitié-Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Isabelle Gourfinkel-An AP-HP, Centre de référence Epilepsies rares, GH Pitié-Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Frederic Sedel Department of Genetics, AP-HP, GHU Pitié-Salpêtrière, Paris, France INSERM UMR_S975, CRICM; CNRS UMR 7225, Paris, France Neurometabolic Unit, AP-HP, GH Pitié-Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Mathieu Anheim Department of Neurology, AP-HP, GHU Pitié-Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Alexis Elbaz INSERM, CESP, Social and occupational determinants of health, U1018, Villejuif, France Université Versailles St-Quentin, UMRS 1018, Villejuif, France PubMed articlesGoogle scholar articles
  • Karine Viala Department of Neurophysiology and Neuropathology, AP-HP, GHU Pitié-Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Marie Vidailhet Department of Neurology, AP-HP, GHU Pitié-Salpêtrière, Paris, France INSERM UMR_S975, CRICM; CNRS UMR 7225, Paris, France ICM (Brain and Spine Institute) GH Pitié-Salpêtrière, Paris, France Neurometabolic Unit, AP-HP, GH Pitié-Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Alexis Brice UPMC Univ Paris 06, UMR_S975, Paris, France Department of Genetics, AP-HP, GHU Pitié-Salpêtrière, Paris, France INSERM UMR_S975, CRICM; CNRS UMR 7225, Paris, France ICM (Brain and Spine Institute) GH Pitié-Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Claude Jardel INSERM U1016, Institut Cochin; CNRS UMR 8104, Paris, France Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, AP-HP, GHU Pitié-Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Anne Lombès INSERM U1016, Institut Cochin; CNRS UMR 8104, Paris, France Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, AP-HP, GHU Pitié-Salpêtrière, Paris, France Université Paris-Descartes-Paris5, Paris, France PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Anne Lombes, Faculté de médecine, Inserm 1016-Institut Cochin, 24 rue du Fb St Jacques, Paris F-75014, France; anne.lombes{at}inserm.fr
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Citation

Tchikviladzé M, Gilleron M, Maisonobe T, et al
A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity
Journal of Neurology, Neurosurgery & Psychiatry 2015;86:646-654.

Publication history

  • Received September 20, 2013
  • Revised May 19, 2014
  • Accepted July 23, 2014
  • First published August 11, 2014.
Online issue publication 
May 14, 2015

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