Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis

  1. Corrochano, S. 1
  2. Männikkö, R. 2
  3. Joyce, P.I. 1
  4. McGoldrick, P. 2
  5. Wettstein, J. 3
  6. Lassi, G. 4
  7. Rayan, D.L.R. 2
  8. Blanco, G. 5
  9. Quinn, C. 6
  10. Liavas, A. 2
  11. Lionikas, A. 3
  12. Amior, N. 2
  13. Dick, J. 2
  14. Healy, E.G. 2
  15. Stewart, M. 1
  16. Carter, S. 1
  17. Hutchinson, M. 1
  18. Bentley, L. 1
  19. Fratta, P. 2
  20. Cortese, A. 7
  21. Cox, R. 1
  22. Steve, D. 1
  23. Tucci, V. 4
  24. Wackerhage, H. 3
  25. Amato, A.A. 6
  26. Greensmith, L. 2
  27. Koltzenburg, M. 2
  28. Hanna, M.G. 2
  29. Acevedo-Arozena, A. 1
  30. Show all authors +
  1. 1 MRC Mammalian Genetics Unit
  2. 2 UCL Institute of Neurology, MRC Centre for Neuromuscular Diseases
  3. 3 University of Aberdeen, Institute of Medical Sciences
  4. 4 Department of Neuroscience and Brain Technologies, Istituto Italiano di Tecnologia
  5. 5 University of York
    info

    University of York

    York, Reino Unido

    ROR https://ror.org/04m01e293

  6. 6 Harvard Medical School
    info

    Harvard Medical School

    Boston, Estados Unidos

  7. 7 Mondino National Institute of Neurology Foundation, IRCCS
Journal:
Brain

ISSN: 1460-2156

Year of publication: 2014

Volume: 137

Issue: 12

Pages: 3171-3185

Type: Article

DOI: 10.1093/BRAIN/AWU292 PMID: 25348630 SCOPUS: 2-s2.0-84922359133 GOOGLE SCHOLAR lock_openOpen access editor
Data source: Scopus