Author Gambetti, Pierluigi
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2014 | Journal Article
R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia
Slattery, C. F.; Beck, J. A.; Harper, L.; Adamson, G.; Abdi, Z.; Uphill, J. & Campbell, T. et al. (2014)
Alzheimer s & Dementia, 10(6) pp. 602-608. DOI: https://doi.org/10.1016/j.jalz.2014.05.1751
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2015 | Journal Article
Inherited mtDNA variations are not strong risk factors in human prion disease
Hudson, G.; Uphill, J.; Hummerich, H.; Blevins, J.; Gambetti, P.; Zerr, I. & Collinge, J. et al. (2015)
Neurobiology of Aging, 36(10) art. 2908.e1. DOI: https://doi.org/10.1016/j.neurobiolaging.2015.07.005
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2015 | Conference Abstract
Assessing the pathogenicity of rare PRNP variants by comparing case and control allele frequency
Minikel, E. V.; Vallabh, S. M.; Lek, M.; Estrada, K. O.; Samocha, K. E.; Sathirapongsasuti, J. F. & McLean, C. Y. et al. (2015)
Prion, 9 pp. S90-S91.
Philadelphia: Taylor & Francis Inc.
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2016 | Journal Article
Quantifying prion disease penetrance using large population control cohorts
Minikel, E. V.; Vallabh, S. M.; Lek, M.; Estrada, K. O.; Samocha, K. E.; Sathirapongsasuti, J. F. & McLean, C. Y. et al. (2016)
Science Translational Medicine, 8(322) art. 322ra9. DOI: https://doi.org/10.1126/scitranslmed.aad5169
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2016 | Journal Article |
Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study
Balendra, R.; Uphill, J.; Collinson, C.; Druyeh, R.; Adamson, G.; Hummerich, H. & Zerr, I. et al. (2016)
BMC Medical Genetics, 17 art. 28. DOI: https://doi.org/10.1186/s12881-016-0278-2
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