Author Uphill, James

1 to 6 of 6 Items
  • 2012 Journal Article
    ​ ​Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP​
    Mead, S.; Uphill, J.; Beck, J.; Poulter, M.; Campbell, T.; Lowe, J. & Adamson, G. et al.​ (2012) 
    Human Molecular Genetics21(8) pp. 1897​-1906​.​ DOI: https://doi.org/10.1093/hmg/ddr607 
    Details  DOI  PMID  PMC  WoS 
  • 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 & Dementia10(6) pp. 602​-608​.​ DOI: https://doi.org/10.1016/j.jalz.2014.05.1751 
    Details  DOI  PMID  PMC  WoS 
  • 2015 Journal Article
    ​ ​Rare structural genetic variation in human prion diseases​
    Lukic, A.; Uphill, J.; Brown, C. A.; Beck, J.; Poulter, M.; Campbell, T. & Adamson, G. et al.​ (2015) 
    Neurobiology of Aging36(5) pp. 2004​-U20​.​ DOI: https://doi.org/10.1016/j.neurobiolaging.2015.01.011 
    Details  DOI  WoS 
  • 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 Aging36(10) art. 2908.e1​.​ DOI: https://doi.org/10.1016/j.neurobiolaging.2015.07.005 
    Details  DOI  PMID  PMC  WoS 
  • 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 Genetics17 art. 28​.​ DOI: https://doi.org/10.1186/s12881-016-0278-2 
    Details  DOI  PMID  PMC  WoS 
  • 2020 Journal Article
    ​ ​Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study​
    Jones, E.; Hummerich, H.; Viré, E.; Uphill, J.; Dimitriadis, A.; Speedy, H. & Campbell, T. et al.​ (2020) 
    The Lancet Neurology19(10) pp. 840​-848​.​ DOI: https://doi.org/10.1016/S1474-4422(20)30273-8 
    Details  DOI 

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