Research ArticleAmyotrophic Lateral Sclerosis

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

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Science Translational Medicine  03 May 2017:
Vol. 9, Issue 388, eaad9157
DOI: 10.1126/scitranslmed.aad9157

Article Information

vol. 9 no. 388

PubMed: 
Print ISSN: 
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History: 
  • Received for publication November 26, 2015
  • Resubmitted August 16, 2016
  • Accepted for publication January 4, 2017
  • .

Author Information

  1. Bradley N. Smith1,*,
  2. Simon D. Topp1,*,
  3. Claudia Fallini2,*,
  4. Hideki Shibata3,*,
  5. Han-Jou Chen1,*,
  6. Claire Troakes1,
  7. Andrew King1,
  8. Nicola Ticozzi4,5,
  9. Kevin P. Kenna2,
  10. Athina Soragia-Gkazi1,
  11. Jack W. Miller1,
  12. Akane Sato3,
  13. Diana Marques Dias1,
  14. Maryangel Jeon2,
  15. Caroline Vance1,
  16. Chun Hao Wong1,
  17. Martina de Majo1,
  18. Wejdan Kattuah1,
  19. Jacqueline C. Mitchell1,
  20. Emma L. Scotter6,
  21. Nicholas W. Parkin7,
  22. Peter C. Sapp2,
  23. Matthew Nolan1,
  24. Peter J. Nestor8,
  25. Michael Simpson9,
  26. Michael Weale9,
  27. Monkel Lek10,11,
  28. Frank Baas12,
  29. J. M. Vianney de Jong12,
  30. Anneloor L. M. A. ten Asbroek12,
  31. Alberto Garcia Redondo13,
  32. Jesús Esteban-Pérez13,
  33. Cinzia Tiloca4,5,
  34. Federico Verde4,5,
  35. Stefano Duga14,15,
  36. Nigel Leigh16,
  37. Hardev Pall17,
  38. Karen E. Morrison18,
  39. Ammar Al-Chalabi1,
  40. Pamela J. Shaw19,
  41. Janine Kirby19,
  42. Martin R. Turner20,
  43. Kevin Talbot20,
  44. Orla Hardiman21,
  45. Jonathan D. Glass22,
  46. Jacqueline De Belleroche23,
  47. Masatoshi Maki3,
  48. Stephen E. Moss24,
  49. Christopher Miller1,
  50. Cinzia Gellera25,
  51. Antonia Ratti4,5,
  52. Safa Al-Sarraj1,
  53. Robert H. Brown Jr.2,
  54. Vincenzo Silani4,5,,
  55. John E. Landers2, and
  56. Christopher E. Shaw1,,
  1. 1United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, 125 Coldharbour Lane, Camberwell, SE5 9NU London, UK.
  2. 2Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
  3. 3Department of Applied Molecular Biosciences, Graduate School of Bioagricultural Sciences, Nagoya University, Furo-cho, Chikusa-ku, Nagoya 464-8601, Japan.
  4. 4Department of Neurology and Laboratory of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto Auxologico Italiano, 20149 Milan, Italy.
  5. 5Department of Pathophysiology and Transplantation, “Dino Ferrari” Center, University of Milan, 20122 Milan, Italy.
  6. 6Centre for Brain Research, Faculty of Medical and Health Sciences, University of Auckland, 85 Park Road, Grafton, Auckland, New Zealand.
  7. 7Molecular Genetics Laboratory, Viapath, Genetics Centre, Guy’s Hospital, Great Maze Pond, SE1 9RT London, UK.
  8. 8German Center for Neurodegenerative Diseases, Leipziger Str. 44, 39120 Magdeburg, Germany.
  9. 9Medical & Molecular Genetics, Division of Genetics and Molecular Medicine, King’s College London, Guy’s Tower, London Bridge, SE1 9RT London, UK.
  10. 10Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
  11. 11Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.
  12. 12Department of Genome Analysis, University of Amsterdam, Academic Medical Centre, P.O. Box 22700, 1100DE Amsterdam, Netherlands.
  13. 13Unidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid, SERMAS, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U-723 Madrid, Spain.
  14. 14Department of Biomedical Sciences, Humanitas University, Rozzano, Milan, Italy.
  15. 15Humanitas Clinical and Research Center, Via Manzoni 56, 20089 Rozzano, Milan, Italy.
  16. 16Trafford Centre for Medical Research, Brighton and Sussex Medical School, BN1 9RY Brighton, UK.
  17. 17School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
  18. 18University of Southampton, Southampton General Hospital, SO16 6YD, UK.
  19. 19Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.
  20. 20Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK.
  21. 21Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Republic of Ireland.
  22. 22Department of Neurology, Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, GA 30322, USA.
  23. 23Neurogenetics Group, Division of Brain Sciences, Imperial College London, Hammersmith Hospital Campus, Burlington Danes Building, Du Cane Road, W12 0NN London, UK.
  24. 24Institute of Ophthalmology, University College London, 11-43 Bath Street, EC1V 9EL London, UK.
  25. 25Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico “Carlo Besta,” 20133 Milan, Italy.
  1. Corresponding author. Email: chris.shaw{at}kcl.ac.uk
    • * These authors contributed equally to this work.

    • These authors contributed equally to this work.

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