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. Mostrar todos os autores +
Revista:
Orphanet Journal of Rare Diseases

ISSN: 1750-1172

Ano de publicación: 2018

Volume: 13

Número: 1

Tipo: Artigo

DOI: 10.1186/S13023-018-0825-3 GOOGLE SCHOLAR lock_openAcceso aberto editor
Fonte de datos: Scopus