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. Show all authors +

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DOI: 10.1186/S13023-018-0825-3 GOOGLE SCHOLAR lock_openOpen access editor

Data source: Scopus