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Neurogenetics
Research paper
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

Authors

  • Arianna Tucci Department of Molecular Neuroscience and Reta Lila Weston Research Laboratories, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK PubMed articlesGoogle scholar articles
  • Yo-Tsen Liu Department of Molecular Neuroscience and Reta Lila Weston Research Laboratories, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK Department of Molecular Neuroscience and Reta Lila Weston Research Laboratories, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK Department of Molecular Neuroscience and Reta Lila Weston Research Laboratories, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK Department of Molecular Neuroscience and Reta Lila Weston Research Laboratories, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK PubMed articlesGoogle scholar articles
  • Elisabeth Preza Department of Molecular Neuroscience and Reta Lila Weston Research Laboratories, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK PubMed articlesGoogle scholar articles
  • Robert D S Pitceathly Department of Molecular Neuroscience and Reta Lila Weston Research Laboratories, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK PubMed articlesGoogle scholar articles
  • Annapurna Chalasani Neurometabolic unit, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, England PubMed articlesGoogle scholar articles
  • Vincent Plagnol UCL Genetics Institute (UGI), London, UK PubMed articlesGoogle scholar articles
  • John M Land Neurometabolic unit, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, England PubMed articlesGoogle scholar articles
  • Daniah Trabzuni Department of Molecular Neuroscience and Reta Lila Weston Research Laboratories, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia PubMed articlesGoogle scholar articles
  • Mina Ryten Department of Molecular Neuroscience and Reta Lila Weston Research Laboratories, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK PubMed articlesGoogle scholar articles
  • on behalf of UKBEC
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  • Zane Jaunmuktane Division of Neuropathology, The National Hospital for Neurology and Neurosurgery, London, UK PubMed articlesGoogle scholar articles
  • Mary M Reilly Department of Molecular Neuroscience and Reta Lila Weston Research Laboratories, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK PubMed articlesGoogle scholar articles
  • Sebastian Brandner Division of Neuropathology, The National Hospital for Neurology and Neurosurgery, London, UK PubMed articlesGoogle scholar articles
  • Iain Hargreaves Neurometabolic unit, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, England PubMed articlesGoogle scholar articles
  • John Hardy Department of Molecular Neuroscience and Reta Lila Weston Research Laboratories, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK PubMed articlesGoogle scholar articles
  • Andrew B Singleton Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Andrey Y Abramov Department of Molecular Neuroscience and Reta Lila Weston Research Laboratories, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK PubMed articlesGoogle scholar articles
  • Henry Houlden Department of Molecular Neuroscience and Reta Lila Weston Research Laboratories, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Henry Houlden, Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK; h.houlden{at}ion.ucl.ac.uk
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Citation

Tucci A, Liu Y, Preza E, et al
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy
Journal of Neurology, Neurosurgery & Psychiatry 2014;85:486-492.

Publication history

  • Received July 23, 2013
  • Revised September 26, 2013
  • Accepted October 4, 2013
  • First published November 6, 2013.
Online issue publication 
July 30, 2016

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Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 3.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/3.0/