Uphill, James

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Alzheimer Disease Genetics Consortium (ADGC), Kunkle, B. W., The European Alzheimer’s Disease Initiative (EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE), Genetic and Environmental Risk in AD/Defining Genetic, P. A. E. R. F. A. D. C. (., Grenier-Boley, B., Sims, R., Bis, J. C., Damotte, V., Naj, A. C., et al. (2019) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 2,946

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Bellenguez, C., Küçükali, F., Jansen, I. E., Kleineidam, L., Moreno-Grau, S., Amin, N., Naj, A. C., Campos-Martin, R., Grenier-Boley, B., Andrade, V., et al. (2022) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 2,498

SARS-CoV-2 evolution during treatment of chronic infection

Kemp, S. A., Collier, D. A., Datir, R. P., Ferreira, I. A. T. M., Gayed, S., Jahun, A., Hosmillo, M., Rees-Spear, C., Mlcochova, P., Lumb, I. U., et al. (2021) · Nature

SARS-CoV-2 and COVID-19 ResearchCOVID-19 Clinical Research Studies

Cited by 1,097

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

ARUK Consortium, Sims, R., GERAD/PERADES, C., van der Lee, S. J., Naj, A. C., Bellenguez, C., Badarinarayan, N., Jakobsdottir, J., Kunkle, B. W., Boland, A., et al. (2017) · Nature Genetics

Alzheimer's disease research and treatmentsNeuroinflammation and Neurodegeneration Mechanisms

Cited by 1,012

Sensitivity of SARS-CoV-2 B.1.1.7 to mRNA vaccine-elicited antibodies

Collier, D. A., De Marco, A., Ferreira, I. A. T. M., Meng, B., Datir, R. P., Walls, A. C., Kemp, S. A., Bassi, J., Pinto, D., Silacci-Fregni, C., et al. (2021) · Nature

SARS-CoV-2 and COVID-19 ResearchAnimal Virus Infections Studies

Cited by 728

The heritability and genetics of frontotemporal lobar degeneration

Rohrer, J. D., Guerreiro, R., Vandrovcova, J., Uphill, J., Reiman, D., Beck, J., Isaacs, A. M., Authier, A., Ferrari, R., Fox, N. C., et al. (2009) · Neurology

Amyotrophic Lateral Sclerosis ResearchDementia and Cognitive Impairment Research

Cited by 536

Balancing Selection at the Prion Protein Gene Consistent with Prehistoric Kurulike Epidemics

Mead, S., Stumpf, M. P. H., Whitfield, J., Beck, J. A., Poulter, M., Campbell, T., Uphill, J. B., Goldstein, D., Alpers, M., Fisher, E. M. C., et al. (2003) · Science

Prion Diseases and Protein MisfoldingEvolution and Genetic Dynamics

Cited by 394

Frontotemporal dementia and its subtypes: a genome-wide association study

Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Brooks, W. S., Schofield, P. R., Halliday, G. M., et al. (2014) · The Lancet Neurology

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

Cited by 383

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

Beck, J., Poulter, M., Hensman, D., Rohrer, J. D., Mahoney, C. J., Adamson, G., Campbell, T., Uphill, J., Borg, A., Fratta, P., et al. (2013) · The American Journal of Human Genetics

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 345

A novel Alzheimer disease locus located near the gene encoding tau protein

Jun, G., Ibrahim-Verbaas, C. A., Vronskaya, M., Lambert, J.-C., Chung, J., Naj, A. C., Kunkle, B. W., Wang, L.-S., Bis, J. C., Bellenguez, C., et al. (2016) · Molecular Psychiatry

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 297

A Novel Protective Prion Protein Variant that Colocalizes with Kuru Exposure

Mead, S., Whitfield, J., Poulter, M., Shah, P., Uphill, J., Campbell, T., Al-Dujaily, H., Hummerich, H., Beck, J., Mein, C. A., et al. (2009) · New England Journal of Medicine

Prion Diseases and Protein MisfoldingAmyloidosis: Diagnosis, Treatment, Outcomes

Cited by 206

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia

Swarup, V., Hinz, F. I., Rexach, J. E., Noguchi, K.-I., Toyoshiba, H., Oda, A., Hirai, K., Sarkar, A., Seyfried, N. T., Cheng, C., et al. (2019) · Nature Medicine

Alzheimer's disease research and treatmentsBioinformatics and Genomic Networks

Cited by 136

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., Druyeh, R., Mahoney, C. J., Rohrer, J. D., et al. (2014) · Alzheimer's & Dementia

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 119

Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing

Kunkle, B., Grenier-Boley, B., Sims, R., Bis, J., Naj, A., Boland, A., Vronskaya, M., van der Lee, S., Amlie-Wolf, A., Bellenguez, C., et al. (2018) · bioRxiv (Cold Spring Harbor Laboratory)

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 35