Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

  1. McMillan, H.J.
  2. Telegrafi, A.
  3. Singleton, A.
  4. Cho, M.T.
  5. Lelli, D.
  6. Lynn, F.C.
  7. Griffin, J.
  8. Asamoah, A.
  9. Rinne, T.
  10. Erasmus, C.E.
  11. Koolen, D.A.
  12. Haaxma, C.A.
  13. Keren, B.
  14. Doummar, D.
  15. Mignot, C.
  16. Thompson, I.
  17. Velsher, L.
  18. Dehghani, M.
  19. Vahidi Mehrjardi, M.Y.
  20. Maroofian, R.
  21. Tchan, M.
  22. Simons, C.
  23. Christodoulou, J.
  24. Martín-Hernández, E.
  25. Guillen Sacoto, M.J.
  26. Henderson, L.B.
  27. McLaughlin, H.
  28. Molday, L.L.
  29. Molday, R.S.
  30. Yoon, G.
  31. Mostra tots els autors/es +
Revista:
Orphanet Journal of Rare Diseases

ISSN: 1750-1172

Any de publicació: 2018

Volum: 13

Número: 1

Tipus: Article

DOI: 10.1186/S13023-018-0825-3 GOOGLE SCHOLAR lock_openAccés obert editor
Font de les dades: Scopus