Marsh, Jacob

ELAVL4, splicing, and glutamatergic dysfunction precede neuron loss in MAPT mutation cerebral organoids

Bowles, K. R., Silva, M. C., Whitney, K., Bertucci, T., Berlind, J. E., Lai, J. D., Garza, J. C., Boles, N. C., Mahali, S., Strang, K. H., et al. (2021) · Cell

Alzheimer's disease research and treatmentsAmyotrophic Lateral Sclerosis Research

Cited by 175

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

A comprehensive resource for induced pluripotent stem cells from patients with primary tauopathies

Karch, C. M., Kao, A. W., Karydas, A., Onanuga, K., Martinez, R., Argouarch, A., Wang, C., Huang, C., Sohn, P. D., Bowles, K. R., et al. (2019) · Stem Cell Reports

Alzheimer's disease research and treatmentsPluripotent Stem Cells Research

Cited by 119

Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation

Filipello, F., You, S.-F., Mirfakhar, F. S., Mahali, S., Bollman, B., Acquarone, M., Korvatska, O., Marsh, J. A., Sivaraman, A., Martinez, R., et al. (2023) · Acta Neuropathologica

Neuroinflammation and Neurodegeneration MechanismsLysosomal Storage Disorders Research

Cited by 81

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

GRAMD1B is a regulator of lipid homeostasis, autophagic flux and phosphorylated tau

Acosta Ingram, D., Turkes, E., Kim, T. Y., Vo, S., Sweeney, N., Bonte, M.-A., Rutherford, R., Julian, D. L., Pan, M., Marsh, J., et al. (2025) · Nature Communications

Alzheimer's disease research and treatmentsAutophagy in Disease and Therapy

Cited by 12

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