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2020
Miranda, Marcelo, Harmuth, Florian, Leonor Bustamante, M., Rossi, Malco, Sturm, Marc 
ORCID: 0000-0002-6552-8362, Magnusson, Olafur Th, Bauer, Peter, Klockgether, Thomas and Ramirez, Alfredo ORCID: 0000-0003-4991-763X
(2020).
Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia.
Parkinsonism Relat. Disord., 81.
S. 45 - 48.
OXFORD:
ELSEVIER SCI LTD.
ISSN 1873-5126
2013
Helgason, Hannes, Sulem, Patrick, Duvvari, Maheswara R., Luo, Hongrong, Thorleifsson, Gudmar, Stefansson, Hreinn ORCID: 0000-0002-9331-6666, Jonsdottir, Ingileif, Masson, Gisli, Gudbjartsson, Daniel F., Walters, G. Bragi ORCID: 0000-0002-5415-6487, Magnusson, Olafur Th, Kong, Augustine ORCID: 0000-0001-8193-5438, Rafnar, Thorunn, Kiemeney, Lambertus A. ORCID: 0000-0002-2368-1326, Schoenmaker-Koller, Frederieke E., Zhao, Ling, Boon, Camiel J. F., Song, Yaojun, Fauser, Sascha, Pei, Michelle, Ristau, Tina, Patel, Shirrina, Liakopoulos, Sandra, van de Ven, Johannes P. H., Hoyng, Carel B., Ferreyra, Henry, Duan, Yaou, Bernstein, Paul S., Geirsdottir, Asbjorg, Helgadottir, Gudleif, Stefansson, Einar, den Hollander, Anneke I., Zhang, Kang ORCID: 0000-0002-4549-1697, Jonasson, Fridbert, Sigurdsson, Haraldur, Thorsteinsdottir, Unnur and Stefansson, Kari
(2013).
A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration.
Nature Genet., 45 (11).
S. 1371 - 1377.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1546-1718