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Frontotemporal Dementia and Chorea Associated with a Compound Heterozygous TREM2 Mutation

Redaelli, V., Salsano, E., Colleoni, L., Corbetta, P., Tringali, G., Sole, A. D., Giaccone, G., & Rossi, G. (2018) · Journal of Alzheimer s Disease · doi:10.3233/jad-180018 · Cited by 20 · see citing works

Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement

Ng, A. S. L., Tan, Y. J., Zhao, Y., Tandiono, M., Chew, E. G. Y., Dominguez, J. C., Macas, M., Ng, E., Hameed, S., Ting, S. K. S., et al. (2018) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2018.04.003 · Cited by 19 · see citing works

Dynamic insights into the effects of nonsynonymous polymorphisms (nsSNPs) on loss of TREM2 function

Dash, R., Munni, Y. A., Mitra, S., Choi, H. J., Jahan, S. I., Chowdhury, A., Jang, T. J., & Moon, I. S. (2022) · Scientific Reports · doi:10.1038/s41598-022-13120-5 · Cited by 18 · see citing works

Early‐onset Alzheimer's disease explained by polygenic risk of late‐onset disease?

Mantyh, W. G., Cochran, J. N., Taylor, J. W., Broce, I., Geier, E. G., Bonham, L. W., Anderson, A. G., Sirkis, D. W., Joie, R. L., Iaccarino, L., et al. (2023) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1002/dad2.12482 · Cited by 12 · see citing works

Dementia-related genetic variants in an Italian population of early-onset Alzheimer’s disease

Bartoletti‐Stella, A., Tarozzi, M. E., Mengozzi, G., Asirelli, F., Brancaleoni, L., Mometto, N., Maserati, M. S., Baiardi, S., Linarello, S., Spallazzi, M., et al. (2022) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2022.969817 · Cited by 12 · see citing works

Variable and interactive effects of Sex, APOE ε4 and TREM2 on the deposition of tau in entorhinal and neocortical regions

Giorgio, J., Jonson, C., Wang, Y., Yokoyama, J. S., Wang, J., Jagust, W. J., & Initiative, O. B. O. T. A. D. N. (2025) · Nature Communications · doi:10.1038/s41467-025-60370-8 · Cited by 12 · see citing works

A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study

Lanza, G., Calı̀, F., Vinci, M., Cosentino, F., Tripodi, M., Spada, R. S., Cantone, M., Bella, R., Mattina, T., & Ferri, R. (2020) · Neural Plasticity · doi:10.1155/2020/8078103 · Cited by 10 · see citing works

A landscape of the genetic and cellular heterogeneity in Alzheimer diseasePreprint

Brase, L., You, S., Albanus, R. D., Del‐Aguila, J. L., Dai, Y., Novotny, B. C., Soriano‐Tárraga, C., Dykstra, T., Fernández, M. V., Budde, J., et al. (2021) · medRxiv · doi:10.1101/2021.11.30.21267072 · Cited by 10 · see citing works

The TREM2 H157Y variant is associated with more severe neurodegeneration in Alzheimer's disease and altered immune‐related processes

Tsui, J. S. M., Au, D. M., Uhm, H., Wong, W., Lo, R. M. N., Jiang, Y., Ip, F. C. F., Mok, K. Y., Wong, H. Y., Kwok, T. C. Y., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70586 · Cited by 6 · see citing works

A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2

Karsak, M., Glebov, K., Scheffold, M., Bajaj, T., Kawalia, A., Karaca, I., Rading, S., Kornhuber, J., Peters, O., Díez-Fairén, M., et al. (2019) · Human Mutation · doi:10.1002/humu.23904 · Cited by 6 · see citing works

Novel variants in POLH and TREM2 genes associated with a complex phenotype of xeroderma pigmentosum variant type and early‐onset dementia

Soares, I. F. Z., Christofolini, D. M., Silva, L. G., Feder, D., & Carvalho, A. A. D. S. (2020) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1491 · Cited by 5 · see citing works

Effects of autologous serum on TREM2 and APOE in a personalized monocyte-derived macrophage assay of late-onset Alzheimer’s patients

Eren, N., Gerike, S., Üsekes, B., Peters, O., Cosma, N. C., & Hellmann‐Regen, J. (2023) · Immunity & Ageing · doi:10.1186/s12979-023-00376-2 · Cited by 6 · see citing works

TREM2 coding variants in Slovak Alzheimer's disease patients

Ďurmanová, V., Javor, J., Párnická, Z., Minárik, G., Ocenasova, A., Vašečková, B., Kiralyova, I., Šutovský, S., Petrovič, R., & Shawkatová, I. (2022) · Journal of Integrative Neuroscience · doi:10.31083/j.jin2104105 · Cited by 5 · see citing works

Genetics of A lzheimer's Disease

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AlzDiscovery : A computational tool to identify Alzheimer's disease‐causing missense mutations using protein structure information

Pan, Q., Parra, G. B., Myung, Y., Portelli, S., Nguyen, T., & Ascher, D. B. (2024) · Protein Science · doi:10.1002/pro.5147 · Cited by 4 · see citing works

An alternative method of SNP inclusion to develop a generalized polygenic risk score analysis across Alzheimer's disease cohorts

Brookes, K. J., Guetta‐Baranes, T., Thomas, A. J., & Morgan, K. (2023) · Frontiers in Dementia · doi:10.3389/frdem.2023.1120206 · Cited by 3 · see citing works

Biophysical characterization of TREM2 missense variants implicated in neurodegenerative disease

Pillai, J. P., Sung, K., Shi, L. Z., & Wu, C. (2025) · Computational and Structural Biotechnology Journal · doi:10.1016/j.csbj.2025.07.003 · Cited by 2 · see citing works

A Novel Rare Homozygous R47C Variant in TREM2 with Frontal Variant Alzheimer’s Disease

Mallika, A. P., Mathuranath, P. S., Menon, R. N., & Banerjee, M. (2026) · Neurology India · doi:10.4103/neurol-india.neurol-india-d-25-00391 · Cited by 2 · see citing works

Alternative splicing in Alzheimer’s disease: Driver, modifier, or consequence of neurodegeneration

Aranda-Abreu, G. E., Rojas-Durán, F., Hernández‐Aguilar, M. E., Herrera‐Covarrubias, D., Tlapa-Monge, L. R., & Mestizo-Gutiérrez, S. L. (2026) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2026.112211 · Cited by 1 · see citing works

The Genetic and environmental risk Factors of Alzheimer’s disease

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A Customized NGS-Based Resequencing Gene Panel to Identify Genetic Variants in Dementing Disorders: Preliminary ResultsPreprint

Lanza, G., Calı̀, F., Vinci, M., Cosentino, F., Tripodi, M., Spada, R. S., Cantone, M., Bella, R., Mattina, T., & Ferri, R. (2019) · Preprints.org · doi:10.20944/preprints201909.0346.v1 · Cited by 1 · see citing works

Evaluating the pathogenicity, stability, and stereochemical effects of variants of unknown significance in TREM2 using orthogonal structural analysesPreprint

Pillai, J. P., Sung, K., Shi, L. Z., & Wu, C. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.05.25.656054

Additional file 2 of Effects of autologous serum on TREM2 and APOE in a personalized monocyte-derived macrophage assay of late-onset Alzheimer’s patients

Eren, N., Gerike, S., Üsekes, B., Peters, O., Cosma, N.-C., & Hellmann‐Regen, J. (2023) · Figshare · doi:10.6084/m9.figshare.26626993

Additional file 1 of Effects of autologous serum on TREM2 and APOE in a personalized monocyte-derived macrophage assay of late-onset Alzheimer’s patients

Eren, N., Gerike, S., Üsekes, B., Peters, O., Cosma, N.-C., & Hellmann‐Regen, J. (2024) · Figshare · doi:10.6084/m9.figshare.26626990

Exploring the complex role of protein glycosylation in the pathogenesis of Parkinson’s disease

Carvalho, A. N., Nunes, M. J., Gama, M. J., Rodrigues, E., Videira, P. A., & Castro‐Caldas, M. (2025) · Royal Society of Chemistry eBooks · doi:10.1039/9781837676101-00062

A novel TREM2 L15Q in signal peptide domain and its influence on Aβ pathogenicity

Kim, D., Bae, H., Shim, K. H., Yang, H., Jeong, D.-E., Kang, M. J., & An, S. S. A. (2026) · npj Dementia · doi:10.1038/s44400-025-00057-5

Targeting microglia: A new strategy for the treatment of Alzheimer's disease

Zheng, M., Yang, M., Su, W., Tian, L., & Gao, W. (2026) · Journal of Neuroimmunology · doi:10.1016/j.jneuroim.2026.578966

Uncovering the biological mechanisms of TREM2 with molecular simulations: A comprehensive review and perspective

Lietzke, E. E., Saeb, D., Aldrich, E. C., de Menezes, R. F., Bruce, K. D., & Sprenger, K. G. (2026) · Progress in Biophysics and Molecular Biology · doi:10.1016/j.pbiomolbio.2026.06.002 · Cited by 1 · see citing works

TREM2 as a central immunometabolic hub in Alzheimer’s disease: linking microglial states, lipid stress, and disease-stage-specific intervention

Yang, G., Xu, X., & Xu, Y. (2026) · Frontiers in Immunology · doi:10.3389/fimmu.2026.1893545

Additional file 1: Table S1. of Rare TREM2 variants associated with Alzheimerâ s disease display reduced cell surface expression

Sirkis, D. W., Bonham, L. W., Aparicio, R. E., Geier, E. G., Ramos, E. M., Wang, Q., Karydas, A., Miller, Z., Miller, B. L., Coppola, G., et al. (2016) · Figshare · doi:10.6084/m9.figshare.4459130

Identification of a rare coding variant in <i>TREM2</i> in a Chinese individual with Alzheimer’s disease

Bonham, L. W., Sirkis, D. W., Fan, J., Aparicio, R. E., Tse, M., Ramos, E. M., Wang, Q., Coppola, G., Rosen, H. J., Miller, B. L., et al. (2017) · Neurocase · doi:10.1080/13554794.2017.1294182 · Cited by 10 · see citing works

P2‐049: Functional characterization of a novel TREM2 coding variant linked to familial Alzheimer's disease

Ramı́rez, A., Karsak, M., Thelen, M., Glebov, K., Nagler, M., Rading, S., Thiele, H., Lernnarz, M., Jessen, F., Maier, W., et al. (2015) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2015.06.585 · Cited by 4 · see citing works

Expression and processing analyses of wild type and p.R47H TREM2 variant in Alzheimer’s disease brains

Ma, L., Allen, M., Sakae, N., Ertekin-Taner, N., Graff-Radford, N. R., Dickson, D. W., Younkin, S. G., & Sevlever, D. (2016) · Molecular Neurodegeneration · doi:10.1186/s13024-016-0137-9 · Cited by 70 · see citing works

P4‐238: THE FUNCTIONAL CHARACTERISATION OF TREM2 RISK VARIANTS USING BAC‐BASED EXPRESSION VECTORS

Dunstan, M. L., Gerrish, A., & Williams, J. H. (2014) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2014.07.010