Ryan, Natalie S.

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

Consensus classification of posterior cortical atrophy

Crutch, S. J., Schott, J. M., Rabinovici, G. D., Murray, M., Snowden, J. S., van der Flier, W. M., Dickerson, B. C., Vandenberghe, R., Ahmed, S., Bak, T. H., et al. (2017) · Alzheimer's & Dementia

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

Cited by 665

White matter hyperintensities are a core feature of Alzheimer’s disease: evidence from the dominantly inherited Alzheimer network

Lee, S., Viqar, F., Zimmerman, M. E., Narkhede, A., Tosto, G., Benzinger, T. L. S., Marcus, D. S., Fagan, A. M., Goate, A., Fox, N. C., et al. (2016) · Annals of Neurology

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

Cited by 542

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

Alzheimer’s-Causing Mutations Shift Aβ Length by Destabilizing γ-Secretase-Aβn Interactions

Szaruga, M., Munteanu, B., Lismont, S., Veugelen, S., Horré, K., Mercken, M., Saido, T. C., Ryan, N. S., De Vos, T., Savvides, S. N., et al. (2017) · Cell

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 248

Serum neurofilament light in familial Alzheimer disease: A marker of early neurodegeneration

Weston, P. S. J., Poole, T., Ryan, N. S., Nair, A., Liang, Y., Macpherson, K., Druyeh, R., Malone, I. B., Ahsan, R. L., Pemberton, H., et al. (2017) · Neurology

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 245

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

Holstege, H., Hulsman, M., Charbonnier, C., Grenier-Boley, B., Quenez, O., Grozeva, D., van Rooij, J. G. J., Sims, R., Ahmad, S., Amin, N., et al. (2022) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 226

Diffusion imaging changes in grey matter in Alzheimer’s disease: a potential marker of early neurodegeneration

Weston, P. S. J., Simpson, I. J. A., Ryan, N. S., Ourselin, S., & Fox, N. C. (2015) · Alzheimer's Research & Therapy

Dementia and Cognitive Impairment ResearchAdvanced Neuroimaging Techniques and Applications

Cited by 214

Magnetic resonance imaging evidence for presymptomatic change in thalamus and caudate in familial Alzheimer’s disease

Ryan, N. S., Keihaninejad, S., Shakespeare, T. J., Lehmann, M., Crutch, S. J., Malone, I. B., Thornton, J. S., Mancini, L., Hyare, H., Yousry, T., et al. (2013) · Brain

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

Cited by 205

Correlating familial Alzheimer’s disease gene mutations with clinical phenotype

Ryan, N. S., & Rossor, M. N. (2010) · Biomarkers in Medicine

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 176

Qualitative changes in human γ-secretase underlie familial Alzheimer’s disease

Szaruga, M., Veugelen, S., Benurwar, M., Lismont, S., Sepulveda-Falla, D., Lleo, A., Ryan, N. S., Lashley, T., Fox, N. C., Murayama, S., et al. (2015) · Journal of Experimental Medicine

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 155

Familial Alzheimer’s disease patient-derived neurons reveal distinct mutation-specific effects on amyloid beta

Arber, C., Toombs, J., Lovejoy, C., Ryan, N. S., Paterson, R. W., Willumsen, N., Gkanatsiou, E., Portelius, E., Blennow, K., Heslegrave, A., et al. (2020) · Molecular Psychiatry

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 148

Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT

Sposito, T., Preza, E., Mahoney, C. J., Setó-Salvia, N., Ryan, N. S., Morris, H. R., Arber, C., Devine, M. J., Houlden, H., Warner, T. T., et al. (2015) · Human Molecular Genetics

Alzheimer's disease research and treatmentsRNA Research and Splicing

Cited by 148

Plasma phospho-tau181 in presymptomatic and symptomatic familial Alzheimer’s disease: a longitudinal cohort study

O’Connor, A., Karikari, T. K., Poole, T., Ashton, N. J., Lantero Rodriguez, J., Khatun, A., Swift, I., Heslegrave, A. J., Abel, E., Chung, E., et al. (2021) · Molecular Psychiatry

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 122

Familial Alzheimer’s disease mutations in PSEN1 lead to premature human stem cell neurogenesis

Arber, C., Lovejoy, C., Harris, L., Willumsen, N., Alatza, A., Casey, J. M., Lines, G., Kerins, C., Mueller, A. K., Zetterberg, H., et al. (2021) · Cell Reports

Neurogenesis and neuroplasticity mechanismsAlzheimer's disease research and treatments

Cited by 116

Alzheimer’s disease in the 100 years since Alzheimer’s death

Ryan, N. S., Rossor, M. N., & Fox, N. C. (2015) · Brain

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

Cited by 69

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

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

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

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

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