Hardy, John

Whole genome analysis in APOE4 homozygotes identifies the DAB1-RELN pathway in Alzheimer's disease pathogenesis

Bracher-Smith, M., Leonenko, G., Baker, E., Crawford, K., Graham, A. C., Salih, D. A., Howell, B. W., Hardy, J., & Escott-Price, V. (2022) · Neurobiology of Aging

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 31

Elevation of gangliosides in four brain regions from Parkinson’s disease patients with a GBA mutation

Blumenreich, S., Nehushtan, T., Barav, O. B., Saville, J. T., Dingjan, T., Hardy, J., Fuller, M., & Futerman, A. H. (2022) · npj Parkinson's Disease

Lysosomal Storage Disorders ResearchParkinson's Disease Mechanisms and Treatments

Cited by 31

The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1

Gustavsson, E. K., Sethi, S., Gao, Y., Brenton, J. W., García-Ruiz, S., Zhang, D., Garza, R., Reynolds, R. H., Evans, J. R., Chen, Z., et al. (2024) · Science Advances

Lysosomal Storage Disorders ResearchGenomics and Phylogenetic Studies

Cited by 30

Prion-like α-synuclein pathology in the brain of infants with Krabbe disease

Hatton, C., Ghanem, S. S., Koss, D. J., Abdi, I. Y., Gibbons, E., Guerreiro, R., Bras, J., International DLB Genetics Consortium, Bras, J., Guerreiro, R., et al. (2022) · Brain

Lysosomal Storage Disorders ResearchParkinson's Disease Mechanisms and Treatments

Cited by 28

Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxer

Ling, H., Kara, E., Revesz, T., Lees, A. J., Plant, G. T., Martino, D., Houlden, H., Hardy, J., & Holton, J. L. (2014) · Acta Neuropathologica Communications

Alzheimer's disease research and treatmentsParkinson's Disease Mechanisms and Treatments

Cited by 27

Genes, pathways and risk prediction in Alzheimer’s disease

Hardy, J., & Escott-Price, V. (2019) · Human Molecular Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 27

Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer’s disease identifies a homozygous CTSF mutation

Bras, J., Djaldetti, R., Alves, A. M., Mead, S., Darwent, L., Lleo, A., Molinuevo, J. L., Blesa, R., Singleton, A., Hardy, J., et al. (2016) · Neurobiology of Aging

Alzheimer's disease research and treatmentsLysosomal Storage Disorders Research

Cited by 27

Genetic dissection of down syndrome-associated alterations in APP/amyloid-β biology using mouse models

Tosh, J. L., Rhymes, E. R., Mumford, P., Whittaker, H. T., Pulford, L. J., Noy, S. J., Cleverley, K., LonDownS Consortium, Strydom, A., Fisher, E., et al. (2021) · Scientific Reports

Alzheimer's disease research and treatmentsDown syndrome and intellectual disability research

Cited by 26

Using blood transcriptome analysis for Alzheimer's disease diagnosis and patient stratification

Zhong, H., Zhou, X., Uhm, H., Jiang, Y., Cao, H., Chen, Y., Mak, T. T. W., Lo, R. M. N., Wong, B. W. Y., Cheng, E. Y. L., et al. (2024) · Alzheimer's & Dementia

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

Cited by 25

Amyloid precursor protein processing in human neurons with an allelic series of the PSEN1 intron 4 deletion mutation and total presenilin-1 knockout.

Arber, C., Villegas-Llerena, C., Toombs, J., Pocock, J. M., Ryan, N. S., Fox, N. C., Zetterberg, H., Hardy, J., & Wray, S. (2019) · Brain Communications

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 19

Amyloid-β predominant Alzheimer’s disease neuropathologic change

Kovacs, G. G., Katsumata, Y., Wu, X., Aung, K. Z., Fardo, D. W., Forrest, S. L., Alzheimer's Disease Genetics Consortium, Bowen, J. D., Crane, P. K., Jarvik, G. P., et al. (2025) · Brain

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 19

Genetic analysis suggests high misassignment rates in clinical Alzheimer's cases and controls

Escott-Price, V., Baker, E., Shoai, M., Leonenko, G., Myers, A. J., Huentelman, M., & Hardy, J. (2019) · Neurobiology of Aging

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

Cited by 18

Membrane damage is at the core of Alzheimer's disease

Hardy, J. (2017) · The Lancet Neurology

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 18

Towards cascading genetic risk in Alzheimer’s disease

Altmann, A., Aksman, L. M., Oxtoby, N. P., Young, A. L., ADNI, Weiner, M., Aisen, P., Petersen, R., Weiner, M., Aisen, P., et al. (2024) · Brain

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

Cited by 18

Genome-wide determinants of mortality and motor progression in Parkinson’s disease

Tan, M. M. X., Lawton, M. A., Pollard, M. I., Brown, E., Real, R., Carrasco, A. M., Bekadar, S., Jabbari, E., Reynolds, R. H., Iwaki, H., et al. (2024) · npj Parkinson's Disease

Parkinson's Disease Mechanisms and TreatmentsGenetic Associations and Epidemiology

Cited by 17

TREM2 variants as a possible cause of frontotemporal dementia with distinct neuroimaging features

Samanci, B., Bilgiç, B., Gelişin, Ö., Tepgeç, F., Guven, G., Tüfekçioğlu, Z., Alaylıoğlu, M., Hanagasi, H. A., Gürvit, H., Guerreiro, R., et al. (2021) · European Journal of Neurology

Dementia and Cognitive Impairment ResearchNeurological diseases and metabolism

Cited by 14

Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies

Trabzuni, D., Ryten, M., Walker, R., Smith, C., Imran, S., Ramasamy, A., Weale, M., & Hardy, J. (2012) · Journal of Neurochemistry

Molecular Biology Techniques and ApplicationsGene expression and cancer classification

Cited by 13

Assessing clinical progression measures in Alzheimer's disease trials: A systematic review and meta‐analysis

McLaughlin, J., Scotton, W. J., Ryan, N. S., Hardy, J. A., & Shoai, M. (2024) · Alzheimer's & Dementia

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

Cited by 11

Consensus meta-analysis of genome-wide association studies for Alzheimer’s disease and related dementias

EADB, Bellenguez, C., Castillo Morales, A., Amin, N., van der Lee, S. J., Muntaner, M., Parveen, K., Küçükali, F., Grenier-Boley, B., Heikkinen, S., et al. (2026) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 7

Prion genotypes in Central America suggest selection for the V129 allele

Hardy, J., Scholz, S., Evans, W., Goldfarb, L., & Singleton, A. (2006) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Prion Diseases and Protein MisfoldingGenetic diversity and population structure

Cited by 7

Genetic variation associated with human longevity and Alzheimer's disease risk act through microglia and oligodendrocyte cross-talk

Graham, A. C., Bellou, E., Harwood, J. C., Yaman, U., Celikag, M., Magusali, N., Rambarack, N., Botia, J. A., Frigerio, C. S., Hardy, J., et al. (2023) · medRxiv

Alzheimer's disease research and treatmentsNeuroinflammation and Neurodegeneration Mechanisms

Cited by 4

Non-microglial downregulation of PLCG2 impairs synaptic function and elicits Alzheimer disease-related hallmarks

Coulon, A., Rabiller, F., Takalo, M., Roy, A., Pelletier, A., Martiskainen, H., Siedlecki-Wullich, D., Lannette-Weimann, N., Majerníková, N., Grenon, A., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory)

Alzheimer's disease research and treatmentsNeuroscience and Neuropharmacology Research

Cited by 3

AD-linked R47H- TREM2 mutation induces disease-enhancing proinflammatory microglial states in mice and humans

Sayed, F. A., Kodama, L., Udeochu, J. C., Fan, L., Carling, G. K., Le, D., Li, Q., Zhou, L., Mathys, H., Wang, M., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory)

Neuroinflammation and Neurodegeneration MechanismsAlzheimer's disease research and treatments

Cited by 3

Genetic drivers of progression in Alzheimer’s disease are distinct from disease risk

Cohen, C. E., Fernandez, S., Yaman, U., Ehyaei, A. R., Kodosaki, E., Askarova, A., Porter, T., O’Brien, E., Study, A. I. B. A. L., Initiative, A. D. N., et al. (2026) · Alzheimer's Research & Therapy

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 1