Renton, Alan E.

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., et al. (2011) · Neuron

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 4,409

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Majounie, E., Renton, A. E., Mok, K., Dopper, E. G., Waite, A., Rollinson, S., Chiò, A., Restagno, G., Nicolaou, N., Simon-Sanchez, J., et al. (2012) · The Lancet Neurology

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 1,210

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Chia, R., Sabir, M. S., Bandres-Ciga, S., Saez-Atienzar, S., Reynolds, R. H., Gustavsson, E., Walton, R. L., Ahmed, S., Viollet, C., Ding, J., et al. (2021) · Nature Genetics

Parkinson's Disease Mechanisms and TreatmentsDementia and Cognitive Impairment Research

Cited by 438

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease

The International Genomics of Alzheimer's Project, Huang, K.-L., Initiative, T. A. D. N., Marcora, E., Pimenova, A. A., Di Narzo, A. F., Kapoor, M., Jin, S. C., Harari, O., Bertelsen, S., et al. (2017) · Nature Neuroscience

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 423

The innate immunity protein IFITM3 modulates γ-secretase in Alzheimer’s disease

Hur, J.-Y., Frost, G. R., Wu, X., Crump, C., Pan, S. J., Wong, E., Barros, M., Li, T., Nie, P., Zhai, Y., et al. (2020) · Nature

Alzheimer's disease research and treatmentsNeuroinflammation and Neurodegeneration Mechanisms

Cited by 382

The complex genetic architecture of Alzheimer's disease: novel insights and future directions

Andrews, S. J., Renton, A. E., Fulton-Howard, B., Podlesny-Drabiniok, A., Marcora, E., & Goate, A. M. (2023) · eBioMedicine

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 377

Parenchymal border macrophages regulate the flow dynamics of the cerebrospinal fluid

Drieu, A., Du, S., Storck, S. E., Rustenhoven, J., Papadopoulos, Z., Dykstra, T., Zhong, F., Kim, K., Blackburn, S., Mamuladze, T., et al. (2022) · Nature

Cerebrospinal fluid and hydrocephalusNeuroinflammation and Neurodegeneration Mechanisms

Cited by 325

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

Bis, J. C., Jian, X., Kunkle, B. W., Chen, Y., Hamilton-Nelson, K. L., Bush, W. S., Salerno, W. J., Lancour, D., Ma, Y., Renton, A. E., et al. (2020) · Molecular Psychiatry

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 248

Cerebrospinal fluid proteomics define the natural history of autosomal dominant Alzheimer’s disease

Johnson, E. C. B., Bian, S., Haque, R. U., Carter, E. K., Watson, C. M., Gordon, B. A., Ping, L., Duong, D. M., Epstein, M. P., McDade, E., et al. (2023) · Nature Medicine

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 170

Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups

Kaivola, K., Shah, Z., Chia, R., International LBD Genomics Consortium, Black, S. E., Gan-Or, Z., Keith, J., Masellis, M., Rogaeva, E., Brice, A., et al. (2022) · Brain

Parkinson's Disease Mechanisms and TreatmentsDementia and Cognitive Impairment Research

Cited by 65

White matter abnormalities and cognition in aging and Alzheimer disease

Peter, C., Sathe, A., Shashikumar, N., Pechman, K. R., Workmeister, A. W., Jackson, T. B., Huo, Y., Mukherjee, S., Mez, J., Dumitrescu, L. C., et al. (2025) · JAMA Neurology

Dementia and Cognitive Impairment ResearchAdvanced Neuroimaging Techniques and Applications

Cited by 59

Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer's disease: a cross-sectional study

Boerwinkle, A. H., Gordon, B. A., Wisch, J., Flores, S., Henson, R. L., Butt, O. H., McKay, N., Chen, C. D., Benzinger, T. L. S., Fagan, A. M., et al. (2023) · The Lancet Neurology

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 55

Comparison of tau spread in people with Down syndrome versus autosomal-dominant Alzheimer's disease: a cross-sectional study

Wisch, J. K., McKay, N. S., Boerwinkle, A. H., Kennedy, J., Flores, S., Handen, B. L., Christian, B. T., Head, E., Mapstone, M., Rafii, M. S., et al. (2024) · The Lancet Neurology

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 37

Longitudinal analysis of a dominantly inherited Alzheimer disease mutation carrier protected from dementia

Llibre-Guerra, J. J., Fernandez, M. V., Joseph-Mathurin, N., Bian, S., Carter, K., Li, Y., Aschenbrenner, A. J., Pottier, C., Sigurdson, W., McDade, E., et al. (2025) · Nature Medicine

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 28

Genetic associations with age at dementia onset in the PSEN1 E280A Colombian kindred

Cochran, J. N., Acosta‐Uribe, J., Esposito, B. T., Madrigal, L., Aguillón, D., Giraldo, M. M., Taylor, J. W., Bradley, J., Fulton‐Howard, B., Andrews, S. J., et al. (2023) · Alzheimer's & Dementia

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 21

Polygenic score modifies risk for Alzheimer's disease in APOE ε4 homozygotes at phenotypic extremes

Huq, A. J., Fulton‐Howard, B., Riaz, M., Laws, S., Sebra, R., Ryan, J., Alzheimer's Disease Genetics Consortium, Renton, A. E., Goate, A. M., Masters, C. L., et al. (2021) · Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

Cited by 17

Evaluating pathogenicity of variants of unknown significance in APP, PSEN1, and PSEN2

Marsh, J. A., Huang, G., Bowling, K., Renton, A. E., Ziegemeier, E., Ball, T., Pottier, C., Cruchaga, C., Day, G. S., Bateman, R. J., et al. (2025) · Neurotherapeutics

Alzheimer's disease research and treatmentsGenomics and Rare Diseases

Cited by 9

A Common Haplotype Lowers PU.1 Expression in Myeloid Cells and Delays Onset of Alzheimer's Disease

Huang, K.-L., Marcora, E., Pimenova, A. A., Di Narzo, A. F., Kapoor, M., Jin, S. C., Harari, O., Bertelsen, S., Fairfax, B. P., Czajkowski, J., et al. (2017) · bioRxiv (Cold Spring Harbor Laboratory)

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 6