The DOI matches its Crossref record; 167 of the 167 references it cites were found in a registry or an index.
Molecular genetics of early-onset Alzheimer’s disease revisited
Open accessAbstract
As the discovery of the Alzheimer's disease (AD) genes, APP, PSEN1, and PSEN2, in families with autosomal dominant early-onset AD (EOAD), gene discovery in familial EOAD came more or less to a standstill. Only 5% of EOAD patients are carrying a pathogenic mutation in one of the AD genes or a apolipoprotein E (APOE) risk allele ε4, most of EOAD patients remain unexplained. Here, we aimed at summarizing the current knowledge of EOAD genetics and its role in ongoing approaches to understand the biology of AD and disease symptomatology as well as developing new therapeutics. Next, we explored the possible molecular mechanisms that might underlie the missing genetic etiology of EOAD and discussed how the use of massive parallel sequencing technologies triggered novel gene discoveries. To conclude, we commented on the relevance of reinvestigating EOAD patients as a means to explore potential new avenues for translational research and therapeutic discoveries.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“These rare mutations cause the aggregation of amyloid proteins, leading to the progression of early onset AD.”
From Role of neuroinflammation in neurodegeneration development (2023) · cites this paper as [157]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“But it was until 1980s that three genes, including APP, PSEN1, and PSEN2, were found to be responsible for early onset AD.157”
From Role of neuroinflammation in neurodegeneration development (2023) · cites this paper as [157]
Experimental — accuracy not yet measuredIn the citing paper
“PSEN2 mutations are much rarer, with only around 30 mutations identified in ADAD families [2].”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [2]
In the citing paper
“A majority of ADAD families carry a pathogenic mutation in one of three genes: APP, presenilin 1 (PSEN1), or presenilin 2 (PSEN2) [2, 33].”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [2]
In the citing paper
“To date, more than 50 highly penetrant mutations have been identified in APP [2].”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [2]
In the citing paper
“ADAD is very rare, accounting for less than <1% of all cases of AD [2, 31–33]”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [2]
In the citing paper
“While mutations in these genes are the most well-studied mutations associated with EOAD, it is estimated that a significant portion of EOAD remains unexplained genetically [2].”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [2]
In the citing paper
“Gene duplications of APP are well-known to cause AD, with as many as 25 duplications of variable length associated with AD in EOAD families [2]”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [2]
In the citing paper
“The large variability in the age at onset of AD symptoms even among families who share common pathogenic mutations [31]”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [31]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
McKhann, G. M., Knopman, D. S., Chertkow, H., Hyman, B. T., Jack, C. R., Kawas, C. H., Klunk, W. E., Koroshetz, W. J., Manly, J. J., Mayeux, R., et al. (2011) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2011.03.005 · Cited by 18,657
Corder, E. H., Saunders, A. M., Strittmatter, W. J., Schmechel, D. E., Gaskell, P. C., Small, G. W., Roses, A. D., Haines, J. L., & Pericak-Vance, M. A. (1993) · Science · doi:10.1126/science.8346443 · Cited by 9,429
Alzheimer's disease: the amyloid cascade hypothesis
Hardy, J. A., & Higgins, G. A. (1992) · Science · doi:10.1126/science.1566067 · Cited by 7,484
Glenner, G. G., & Wong, C. W. (1984) · Biochemical and Biophysical Research Communications · doi:10.1016/s0006-291x(84)80190-4 · Cited by 5,404
Goate, A., Chartier-Harlin, M.-C., Mullan, M., Brown, J., Crawford, F., Fidani, L., Giuffra, L., Haynes, A., Irving, N., James, L., et al. (1991) · Nature · doi:10.1038/349704a0 · Cited by 4,659
The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor
Kang, J., Lemaire, H.-G., Unterbeck, A., Salbaum, J. M., Masters, C. L., Grzeschik, K.-H., Multhaup, G., Beyreuther, K., & Müller-Hill, B. (1987) · Nature · doi:10.1038/325733a0 · Cited by 4,619
Amyloid plaque core protein in Alzheimer disease and Down syndrome.
Masters, C. L., Simms, G., Weinman, N. A., Multhaup, G., McDonald, B. L., & Beyreuther, K. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.12.4245 · Cited by 4,431
Meta-Analysis of 74,046 Individuals Identifies 11 New Susceptibility Loci for Alzheimer’s Disease
(EADI), E. A. D. I., Lambert, J.-C., (GERAD), G. A. E. R. I. A. D., Alzheimer's Disease Genetic Consortium (ADGC), (CHARGE), C. F. H. A. A. R. I. G. E., Ibrahim-Verbaas, C. A., Harold, D., Naj, A. C., Sims, R., Bellenguez, C., et al. (2013) · Nature Genetics · doi:10.1038/ng.2802 · Cited by 4,336
Self-citationStrittmatter, W. J., Saunders, A. M., Schmechel, D., Pericak-Vance, M., Enghild, J., Salvesen, G. S., & Roses, A. D. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.5.1977 · Cited by 4,268
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
Sherrington, R., Rogaev, E. I., Liang, Y., Rogaeva, E. A., Levesque, G., Ikeda, M., Chi, H., Lin, C., Li, G., Holman, K., et al. (1995) · Nature · doi:10.1038/375754a0 · Cited by 4,051
Flagged first, then by citations
Cited by
Sorted by citations
Items 401–500 of 617
O’Connor, A., Abel, E., Fraser, M. R., Ryan, N. S., Jiménez, D., Koriath, C., Chávez‐Gutiérrez, L., Ansorge, O., Mummery, C. J., Lashley, T., et al. (2021) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2021.01.032 · Cited by 4
Olive fruit and olive oil bioactive polyphenols in the promotion of health
Ray, N. B., Hilsabeck, K. D., Pitsillou, E., Mann, A., Karagiannis, T. C., & McCord, D. E. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-819815-5.00014-8 · Cited by 4
Li, R., Lv, Z., Li, Y., Li, W., & Hao, Y. (2022) · Chinese Medical Sciences Journal · doi:10.24920/004059 · Cited by 4
Xu, Y. H., Aung, H. L., Bateman, R. J., Brooks, W. S., Chhatwal, J. P., Day, G. S., Fagan, A. M., Farlow, M. R., Gordon, B. A., Kehoe, P. G., et al. (2023) · Alzheimer s & Dementia · doi:10.1002/alz.13082 · Cited by 4
Nan, H., Liu, L., Chen, Z., Chu, M. K., Li, J., Jing, D., Wang, Y., & Wu, L. (2023) · Clinical Genetics · doi:10.1111/cge.14354 · Cited by 5
Aloisio, S., Satolli, S., Bellini, G., & Lopriore, P. (2023) · Neurological Sciences · doi:10.1007/s10072-023-07044-9 · Cited by 4
Sadoughi, D., & Khayatzadeh, J. (2018) · The Neuroscience Journal of Shefaye Khatam · doi:10.29252/shefa.6.1.1 · Cited by 4
Maladie d’Alzheimer, neuro-inflammation et virus herpétiques
Epstein, A. L. (2020) · médecine/sciences · doi:10.1051/medsci/2020090 · Cited by 4
Smirnova, T. A., Viskin, A., Hoskova, M., Habartová, L., Setnička, V., Cejnar, P., & Kučková, Š. (2021) · Journal of Separation Science · doi:10.1002/jssc.202100468 · Cited by 4
Genetic risk factors of Alzheimer's disease and cell-to-cell transmission of Tau
Huttunen, H. J. (2016) · Journal of Neurology and Neuromedicine · doi:10.29245/2572.942x/2016/2.1022 · Cited by 4
Squitti, R., Siotto, M., Ivanova, I. D., & Rongioletti, M. C. A. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-810532-0.00042-2 · Cited by 4
Cannavo, C., Tosh, J., Fisher, E., & Wiseman, F. K. (2019) · Progress in brain research · doi:10.1016/bs.pbr.2019.10.004 · Cited by 4
The Importance of the Temporal Dimension in Identifying Relevant Genomic Variants: A Case Study
Costa, M., Palacio, A. L., & Pastor, Ó. (2020) · Lecture notes in computer science · doi:10.1007/978-3-030-65847-2_5 · Cited by 4
Kang, S., Lee, J., Choi, S., Nesbitt, J. J., Min, P. H., Trushina, E., & Choi, D.-S. (2023) · Research Square · doi:10.21203/rs.3.rs-3627637/v1 · Cited by 2
Karachanak-Yankova, S., Serbezov, D., Antov, G., Stancheva, M., Mihaylova, M., Hadjidekova, S. P., Toncheva, D. I., Pashov, A. D., Belejanska, D., Zhelev, Y., et al. (2024) · Genes · doi:10.3390/genes15060753 · Cited by 3
Xavier, C., & Pinto, N. (2025) · Journal of Alzheimer s Disease · doi:10.1177/13872877251317543 · Cited by 4
Naffaa, M. M. (2025) · Lifespan development and mental health. · doi:10.70322/ldmh.2025.10005 · Cited by 3
Arias-Aragón, F., Sánchez-Hidalgo, A. C., Gruart, A., Martı́nez-Mir, A., Delgado-Garcia, J. M., & Scholl, F. G. (2025) · Experimental Neurology · doi:10.1016/j.expneurol.2025.115241 · Cited by 3
The role of microbiota modulation in preventing Alzheimer’s disease- a review
Strzępa, A., & Szczepanik, M. (2025) · Pharmacological Reports · doi:10.1007/s43440-025-00796-5 · Cited by 3
Sex differences in sleep fragmentation in 5xFAD mice
Kim, K., Villegas, A.-R., Kelley, A., Labut, E. M., Hagen, T. M., Magnusson, K. R., & Kloefkorn, H. E. (2025) · Neuroscience · doi:10.1016/j.neuroscience.2025.10.035 · Cited by 3
Advances in non-human primate models for Alzheimer's disease research
Joho, D., Sato, K., Kumita, W., Saido, T. C., Sasaki, E., & Sasaguri, H. (2025) · Neuroscience Research · doi:10.1016/j.neures.2025.104984 · Cited by 6
High-fat Western diet induces retinal and metabolic alterations in APOE3 and APOE4 knock-in mice
Abhyankar, S. D., Luo, Q., Hartman, G. D., Mahajan, N. S., Corson, T. W., Oblak, A. L., Lamb, B. T., & Bhatwadekar, A. D. (2026) · Scientific Reports · doi:10.1038/s41598-025-34776-9 · Cited by 3
Shoff, T. A., Derbez-Morin, M., Cai, P., & Julian, R. R. (2026) · PNAS Nexus · doi:10.1093/pnasnexus/pgag034 · Cited by 4
Rodent Models of Alzheimer’s Disease
Singh, A., Ghosh, S., Singh, D. K. K., Yarlagadda, B., & Sinha, J. K. (2026) · Contemporary clinical neuroscience · doi:10.1007/978-3-032-18296-8_13 · Cited by 3
Utility of animal models of Alzheimer's disease in food bioactive research
Lange, K. W. (2021) · Journal of Food Bioactives · doi:10.31665/jfb.2020.13255 · Cited by 3
Akçeşme, B., Islam, N., Lekic, D., Ćutuk, R., & Basovic, N. (2024) · Neurogenetics · doi:10.1007/s10048-024-00786-4 · Cited by 3
Franco, R. (2021) · Exploration of Neuroprotective Therapy · doi:10.37349/ent.2021.00001 · Cited by 3
Identification of two pathogenic mutations in SORL1 in early-onset Alzheimer’s disease
Qiu, G., Zhu, F., & Xu, C. (2021) · Journal of Clinical Neuroscience · doi:10.1016/j.jocn.2021.05.020 · Cited by 3
The Utility of Next-Generation Sequencing for Identifying the Genetic Basis of Dementia
Klimkowicz‐Mrowiec, A., Dziubek, A., Sado, M., Karpiński, M., & Gorzkowska, A. (2021) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph18168520 · Cited by 3
Screening for Genetic Mutations Associated with Early-Onset Alzheimer’s Disease in Han Chinese
Liu, C., Cong, L., Zhu, M., Wang, Y., Tang, S. H., Han, X., Zhang, Q., Tian, N., Liu, K., Liang, X., et al. (2022) · Current Alzheimer Research · doi:10.2174/1567205020666221028112915 · Cited by 3
Theron, D., Hopkins, L. N., Sutherland, H. G. E., Griffiths, L. R., & Fernandez, F. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms241713480 · Cited by 4
Kumar, H. S., Moore, J. M., Steiner, A. C., Sotirakis, E., Schärli, B., Isnard, P., Thiam, K., Wolfer, D. P., & Böttger, E. C. (2023) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-023-05031-z · Cited by 3
Bauer, C., Duplan, E., George‐Hyslop, P. S., & Checler, F. (2023) · Cells · doi:10.3390/cells12242802 · Cited by 2
GBA-associated Parkinson’s disease in Hungary: clinical features and genetic insights
Szlepak, T., Kossev, A. P., Csabán, D., Illés, A., Udvari, S., Balicza, P., Borsos, B., Takáts, A., Klivènyi, P., & Molnár, M. J. (2023) · Neurological Sciences · doi:10.1007/s10072-023-07213-w · Cited by 3
Alzheimer’s Disease: An Outline of Therapeutic Interventions by different Approaches
Dyuthi, H. Y., & Rajashekhar, U. (2024) · Research Journal of Pharmacology and Pharmacodynamics · doi:10.52711/2321-5836.2024.00038 · Cited by 3
Genetik der Alzheimer-Krankheit
Bajaj, T., Ramı́rez, A., & Wagner-Thelen, H. (2018) · Medizinische Genetik · doi:10.1007/s11825-018-0193-3 · Cited by 3
Allele-Specific Epigenome Editing
Bashtrykov, P., & Jeltsch, A. (2018) · Methods in molecular biology · doi:10.1007/978-1-4939-7774-1_6 · Cited by 3
Ma, L., Liu, S., Du, J., Niu, Y., Hou, P.-F., Shu, Q., Ma, R., Wu, S., Qu, Q., & Lv, Y.-L. (2020) · Neurobiology of Learning and Memory · doi:10.1016/j.nlm.2019.107155 · Cited by 3
Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer’s Disease
Bagyinszky, E., Lee, H., Pyun, J., Suh, J., Kang, M. J., Giau, V. V., An, S. S. A., Park, K. H., & Kim, S. (2020) · Diagnostics · doi:10.3390/diagnostics10060405 · Cited by 3
Brücher, B. L. D. M., & Jamall, I. S. (2019) · 4open · doi:10.1051/fopen/2019023 · Cited by 4
Zainuddin, M.-S., Ghanesh, K., Ganesan, N., Kumari, M., Radhakrishnan, A. K., & Bhuvanendran, S. (2025) · Nutritional Neuroscience · doi:10.1080/1028415x.2025.2526155 · Cited by 2
Jagadeesh, N., Liu, L., Balasubramaniam, M., Ayyadevara, S., & Griffin, W. S. T. (2025) · Cells · doi:10.3390/cells14151216 · Cited by 2
PolyGR-containing aggregates link with pathology and clinical features of Alzheimer’s disease
Phuong, H. T., Tomas, R. F., Akmese, C., Mijares, A. M. P., Gerstin, I. M., Guo, S., Bell, L. R., Ellwood, R., Yegorova, S., Ng, S. K., et al. (2025) · Acta Neuropathologica · doi:10.1007/s00401-025-02954-8 · Cited by 2
Wu, M., Gao, L., Su, Q., Wang, H., Zhao, Q., & Wang, H. (2025) · BMC Neurology · doi:10.1186/s12883-025-04530-9 · Cited by 3
Pan, A., Cao, R., Ling, X., Zou, J., & Bi, W. (2025) · Neurological Sciences · doi:10.1007/s10072-025-08678-7 · Cited by 2
Ahamed, M. A., Guo, B., Khalid, M. A. U., Pal, T., Guo, F., & Guan, W. (2026) · Nano Today · doi:10.1016/j.nantod.2026.103033 · Cited by 2
Senkowska, Z., & Węglarz‐Tomczak, E. (2026) · Ageing Research Reviews · doi:10.1016/j.arr.2026.103116 · Cited by 2
Fowler, D. K., Savage, T. M., & Mackie, D. I. (2026) · Journal of Cannabis Research · doi:10.1186/s42238-026-00445-5 · Cited by 3
GWAS on short tandem repeats identifies genetic mechanisms in Alzheimer’s disease
Gmelin, D., Ohlei, O., Aslam, M. M., Junge, M. P., Parkkinen, L., Mullin, K., Prokopenko, D., Lill, C. M., Tanzi, R. E., Dobričić, V., et al. (2026) · Nature Communications · doi:10.1038/s41467-026-73902-7 · Cited by 4
Enfermedades metabólicas hereditarias
Cortizo, A. M. (2021) · doi:10.35537/10915/115948 · Cited by 2
Torraville, S. E., Flynn, C. M., Kendall, T. L., & Yuan, Q. (2023) · Biomedicines · doi:10.3390/biomedicines11071884 · Cited by 4
Toward understanding the role of genomic repeat elements in neurodegenerative diseases
An, Z., Jiang, A., & Chen, J. (2024) · Neural Regeneration Research · doi:10.4103/nrr.nrr-d-23-01568 · Cited by 2
Razia, R., Majeed, F., Amin, R., Ayub, M. N., Mukhtar, S. M., Mahmood, K., Shabbir, H., Bashir, S., & Baig, D. N. (2024) · Heliyon · doi:10.1016/j.heliyon.2024.e34912 · Cited by 2
Autoimmune hypothesis of Alzheimer’s disease: unanswered question
Arshavsky, Y. I. (2024) · Journal of Neurophysiology · doi:10.1152/jn.00259.2024 · Cited by 2
Molecular etiopathogenesis of neurodegenerative diseases
Divya, D., Thekkekkara, D., Sai, T. E., Ramakrishna, D., Manjula, S. N., & Goswami, S. K. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-28822-7.00002-7 · Cited by 2
Zhu, Y., Wang, A., Zhou, Y., Yuan, S., Ji, Y., Hu, W., & Initiative, A. D. N. (2025) · Cerebral Cortex · doi:10.1093/cercor/bhaf045 · Cited by 2
Heylen, A., Vermeiren, Y., Deyn, P. P. D., & Dam, D. V. (2025) · Journal of Neurochemistry · doi:10.1111/jnc.70046 · Cited by 2
Case of early onset Alzheimer’s disease associated with a novel PSEN1 variant identified in Colombia
Zapata‐Restrepo, L. M., Miller, B. L., Rivas, J. C., Possin, K. L., Valcour, V., Piña‐Escudero, S. D., Ibáñez, A. M., & Kosik, K. S. (2025) · npj Dementia · doi:10.1038/s44400-025-00036-w · Cited by 2
Early Onset Alzheimer's Disease
Hyer, L. A. (2018) · MOJ Gerontology & Geriatrics · doi:10.15406/mojgg.2018.03.00086 · Cited by 2
Mapes, M. V., O’Brien, B. M., & King, L. P. (2017) · The AMA Journal of Ethic · doi:10.1001/journalofethics.2017.19.7.ecas4-1707 · Cited by 2
Algahtani, H. A., Shirah, B. H., Alshareef, A., Al-Qahtani, M. H., Abdulkareem, A. A., & Naseer, M. I. (2020) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2020.03033 · Cited by 2
Coyne, A. N., & Rothstein, J. D. (2021) · Journal of Visualized Experiments · doi:10.3791/62789 · Cited by 2
Alzheimer’s Disease—Molecular Defect, Public Perceptions and Stigma in South Africa
Maduna, T., & Loos, B. (2021) · Springer eBooks · doi:10.1007/978-981-16-2546-6_4 · Cited by 4
A Case of Next-generation Sequencing Gene Testing: Points to be Considered in Testing and Reporting
Kim, N.-K., & Kim, J. (2021) · Annals of Laboratory Medicine · doi:10.3343/alm.2022.42.2.296 · Cited by 2
Lee, M., Liao, Y., Chen, S., & Chen, Y. (2021) · IUBMB Life · doi:10.1002/iub.2570 · Cited by 2
Catania, M., Marti, A., Rossi, G., Fioretti, A., Boiocchi, C., Ricci, M., Gasparini, F., Beltrami, D., Crepaldi, V., Redaelli, V., et al. (2022) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2022.01.008 · Cited by 2
Drug Therapy of Alzheimer’s Disease: Cholinesterase Inhibitors, NMDA Antagonists
Nafees, S., Akram, M. F., & Khan, M. A. (2021) · Springer eBooks · doi:10.1007/978-981-16-4558-7_6 · Cited by 2
A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer’s disease
Güven, G., Samancı, B., Güleç, Ç., Hanağası, H. A., Gurvit, H. I., Gökalp, E. E., Tepgeç, F., Güler, S., Uyguner, Z. O., & Bılgıç, B. (2021) · Neurological Sciences · doi:10.1007/s10072-021-05243-w · Cited by 2
Structural analysis on mutations related to Alzheimer’s disease
Avramouli, A., Polychronidou, E., & Vlamos, P. (2022) · EMBnet journal · doi:10.14806/ej.27.0.1011
Loss of Y is associated with multi-omic changes in immune cells from Alzheimer’s disease patientsPreprint
Jąkalski, M., Rychlicka-Buniowska, E., Davies, H., Sarkisyan, D., Siedlar, M., Baran, J., Węglarczyk, K., Jaszczyński, J., Ryś, J., Gedraitis, V., et al. (2023) · medRxiv · doi:10.1101/2023.02.07.23285520 · Cited by 2
Li, Y., Bai, H., Liu, W., Wu, T., Gu, H., Shi, G., Zhu, M. L., Zhao, N., & Huang, X. (2023) · Research Square · doi:10.21203/rs.3.rs-2850041/v1 · Cited by 2
Relationship periodontitis and Alzheimer's disease: Relevant aspects from an epigenetic view
Chacón, T., & Hernández, H. G. (2025) · Journal of Alzheimer s Disease · doi:10.1177/13872877251397406 · Cited by 2
de la Vega, M. P., Näslund, C., Brundin, R., Lannfelt, L., Löwenmark, M., Kilander, L., Ingelsson, M., & Giedraitis, V. (2022) · BMC Genomics · doi:10.1186/s12864-022-08343-9 · Cited by 21
Güven, G., Hanağası, H. A., Lohmann, E., Erginel‐Ünaltuna, N., Gurvit, H. I., Aslan, R., Dönmez, Ç., & Bılgıç, B. (2021) · Turkish Journal Of Neurology · doi:10.4274/tnd.2021.22316 · Cited by 1
A guidance of model selection for genomic prediction based on linear mixed models for complex traits
Duan, J., Zhang, J., Liu, L., & Wen, Y. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.1017380 · Cited by 1
Alzheimer’s Disease: Cellular and Pharmacological Aspects
Aranda-Abreu, G. E., Rojas-Durán, F., Hernández‐Aguilar, M. E., Herrera‐Covarrubias, D., Chi-Castañeda, D., Toledo‐Cárdenas, M. R., & Suárez-Medellín, J. M. (2024) · Geriatrics · doi:10.3390/geriatrics9040086 · Cited by 2
Li, Y., Bai, H., Liu, W., Zhou, W., Gu, H., Zhao, P., Zhu, M. L., Li, Y., Yan, X., Zhao, N., et al. (2024) · iScience · doi:10.1016/j.isci.2024.110588 · Cited by 3
Pathophysiologic abnormalities in transgenic mice carrying the Alzheimer disease PSEN1 Δ440 mutation
Fuller, P. E., Collis, V. L., Sharma, P., Burkett, A. M., Wang, S., Brown, K. A., Weir, N., Goulbourne, C. N., Nixon, R. A., Longden, T. A., et al. (2024) · Human Molecular Genetics · doi:10.1093/hmg/ddae139 · Cited by 1
Peyvand, P., Allami, P., & Rezaei, N. (2025) · Reviews in the Neurosciences · doi:10.1515/revneuro-2025-0025 · Cited by 1
CNS Gene Therapy for APOE4 Homozygote-Associated Alzheimer’s Disease
Hackett, N. R., Günaydın, C., Sondhi, D., Kaminsky, S. M., & Crystal, R. G. (2025) · Springer eBooks · doi:10.1007/978-3-031-89307-0_3 · Cited by 1
Early-Onset Alzheimer’s disease and amyloid precursor protein gene mutations
Varte, V., Ralte, L., & Kumar, N. S. (2025) · Discover Neuroscience · doi:10.1186/s13064-025-00203-y · Cited by 7
Doud, E. H., Hansen, K., Haynes, K. A., Eldridge, K., Arrivalagan, J., Charbe, N. B., Silva, L. D., Quinney, S. K., Mosley, A. L., Rizzo, S. J. S., et al. (2025) · mAbs · doi:10.1080/19420862.2025.2537118 · Cited by 1
Optic neuritis as a link between autoimmunity and dementia risk
Kim, J., Han, K., Jung, J., Oh, S. Y., Park, K., & Min, J. (2025) · Communications Medicine · doi:10.1038/s43856-025-01050-y · Cited by 1
Duckhorn, J. C., Kim, D. K., & Huang, Y. A. (2025) · Neural Regeneration Research · doi:10.4103/nrr.nrr-d-25-00243 · Cited by 2
Preexisting Genetic Background Primes the Responses of Human Neurons to Amyloid β
Soladogun, A. S., & Li, Z. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26199804 · Cited by 1
izydorczak, M., Oumov, M., Udhwani, M. V., Fostok, F., Coronas‐Samano, G., Sanganahalli, B. G., Hermán, P., Hyder, F., & Verhagen, J. V. (2026) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2026.1622135 · Cited by 1
APP E590D mutation increases generation of Aβ and Aη peptides and exacerbates tauopathy
Liu, T., Wetzel, L., Roy, D., Zhang, K., Zhu, Z., Kumaraguru, P., Gorthi, V., Jeon, H., Woo, J. A., & Kang, D. E. (2026) · npj Dementia · doi:10.1038/s44400-026-00069-9 · Cited by 1
Advances in the treatment of Alzheimer’s disease
Goceroglu, R. T., & Hacımüftüoğlu, A. (2026) · Frontiers in Pharmacology · doi:10.3389/fphar.2026.1819165 · Cited by 1
Genetics, Neuronal Pathways, and Electrophysiology of Alzheimer’s Disease
Zubair, M. (2019) · Springer eBooks · doi:10.1007/978-981-13-9636-6_11 · Cited by 1
Reza, M., Cahill, J. F. X., Hungria, E. F., Stanton, L., Kritselis, M. A., Donahue, J. E., Sanborn, V. E., & Wu, C. (2023) · Advances in Psychiatry and Behavioral Health · doi:10.1016/j.ypsc.2023.04.001 · Cited by 1
Romito, L. M., Prioni, S., Braccia, A., Catania, M., Elia, A. E., Dondi, F., Lucchini, S., Bertagna, F., Piacentini, S. H. M. J., Eleopra, R., et al. (2023) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2023.120846 · Cited by 1
Cholesterol in the Central Nervous System in Health and Disease
Skowronek, R. (2023) · Contemporary cardiology · doi:10.1007/978-3-031-41192-2_21 · Cited by 1
Costa, M., Palacio, A. L., & Pastor, Ó. (2024) · Data & Knowledge Engineering · doi:10.1016/j.datak.2024.102284 · Cited by 1
Serotonin receptors - a potential target for the treatment of Alzheimer’s disease
Eremin, D. V., Kondaurova, E. M., Rodnyy, A. Y., Molobekova, K. A., Kudlay, D. A., & Naumenko, V. S. (2023) · Biochemistry (Moscow) · doi:10.31857/s0320972523120059 · Cited by 1
Epidemiology, Risk Factors, and Disease Burden
Schillerstrom, J. E., Benavente, K. S., & Velazquez-Negron, I. M. (2024) · doi:10.1093/med/9780197690024.003.0002 · Cited by 1
Achouri-Rassas, A., Fray, S., Saied, Z., Sassi, S. B., Ali, N., & Baraket, G. (2025) · Neurological Research · doi:10.1080/01616412.2025.2472841 · Cited by 1
Khalid, H., Mohamed, H., Eltoukhy, A., Saeed, M. T., & Song, Y. (2025) · European Journal of Pharmacology · doi:10.1016/j.ejphar.2025.177611 · Cited by 1
The Neuroprotective Effects of GLP-1 Analogues on Alzheimer's Disease – A Literature Review
Ulicka, W., Dudek, P., Łuczak, K., Chudzikowski, M., Pawlik, A., Pięta, J., Tabeau, A., Sitarek, H., Prus, J., & Prokopiuk, A. (2025) · Journal of Education Health and Sport · doi:10.12775/jehs.2025.80.59398 · Cited by 1
Gene Expression Meta-Analysis of Parkinson’s disease and its Relationship with Alzheimer’s disease
Kelly, J., Moyeed, R. A., Carroll, C., Albani, D., & Li, X. (2020) · Vide Leaf, Hyderabad eBooks · doi:10.37247/pamb.1.2020.32 · Cited by 1
What are the Risk Factors for Alzheimer's Disease?
(2022) · DHR Proceedings · doi:10.47488/dhrp.v2is2.60 · Cited by 1
Metadata
- Authors
- Cacace, R., Sleegers, K., & Van Broeckhoven, C.
- Affiliations
- University of Antwerp (BE)
- Neurodegenerative Brain Diseases group Department of Molecular Genetics VIB Antwerp Belgium
- Venue
- Alzheimer's & Dementia
- Publisher
- Wiley
- Published
- 2016-03-23
- Volume
- 12
- Issue
- 6
- Pages
- 733-748
- ISSN
- 1552-5260 (ISSN-L)
- 1552-5279
- OpenAlex
- W2306696647
- Cited by
- 617
- References
- 167
- Citations by year
- 2026: 34 · 2025: 71 · 2024: 60 · 2023: 90 · 2022: 85 · 2021: 88 · 2020: 61 · 2019: 49 · 2018: 35 · 2017: 32 · 2016: 11
- FWCI
- 4.97
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Alzheimer s & Dementia (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Funders
- Fonds Wetenschappelijk Onderzoek
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Keywords
- early-onset Alzheimer's disease, familial Alzheimer's disease
- MeSH terms
- Alzheimer Disease, Apolipoproteins E, Humans, Models, Molecular, Molecular Biology, Mutation, Amyloid beta-Protein Precursor, Presenilin-1, Presenilin-2
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
