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ABCA7 frameshift deletion associated with Alzheimer disease in African Americans.

Neurology. Genetics

Cukier HN, Kunkle BW, Vardarajan BN, Rolati S, Hamilton-Nelson KL, Kohli MA, Whitehead PL, Dombroski BA, Van Booven D, Lang R, Dykxhoorn DM, Farrer LA, Cuccaro ML, Vance JM, Gilbert JR, Beecham GW, Martin ER, Carney RM, Mayeux R, Schellenberg GD, Byrd GS, Haines JL, Pericak-Vance MA.
PMID: 27231719
Neurol Genet. 2016 May 17;2(3):e79. doi: 10.1212/NXG.0000000000000079. eCollection 2016 Jun.

OBJECTIVE: To identify a causative variant(s) that may contribute to Alzheimer disease (AD) in African Americans (AA) in the ATP-binding cassette, subfamily A (ABC1), member 7 (ABCA7) gene, a known risk factor for late-onset AD.METHODS: Custom capture sequencing was...

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Cukier HN, Kunkle BW, Vardarajan BN, et al. ABCA7 frameshift deletion associated with Alzheimer disease in African Americans. Neurol Genet. 2016;2(3):e79doi: 10.1212/NXG.0000000000000079.
Cukier, H. N., Kunkle, B. W., Vardarajan, B. N., Rolati, S., Hamilton-Nelson, K. L., Kohli, M. A., Whitehead, P. L., Dombroski, B. A., Van Booven, D., Lang, R., Dykxhoorn, D. M., Farrer, L. A., Cuccaro, M. L., Vance, J. M., Gilbert, J. R., Beecham, G. W., Martin, E. R., Carney, R. M., Mayeux, R., Schellenberg, G. D., Byrd, G. S., Haines, J. L., Pericak-Vance, M. A. (2016). ABCA7 frameshift deletion associated with Alzheimer disease in African Americans. Neurology. Genetics, 2(3), e79. https://doi.org/10.1212/NXG.0000000000000079
Cukier, Holly N, et al. "ABCA7 frameshift deletion associated with Alzheimer disease in African Americans." Neurology. Genetics vol. 2,3 (2016): e79. doi: https://doi.org/10.1212/NXG.0000000000000079
Cukier HN, Kunkle BW, Vardarajan BN, Rolati S, Hamilton-Nelson KL, Kohli MA, Whitehead PL, Dombroski BA, Van Booven D, Lang R, Dykxhoorn DM, Farrer LA, Cuccaro ML, Vance JM, Gilbert JR, Beecham GW, Martin ER, Carney RM, Mayeux R, Schellenberg GD, Byrd GS, Haines JL, Pericak-Vance MA. ABCA7 frameshift deletion associated with Alzheimer disease in African Americans. Neurol Genet. 2016 May 17;2(3):e79. doi: 10.1212/NXG.0000000000000079. eCollection 2016 Jun. PMID: 27231719; PMCID: PMC4871806.
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[No title available]

Journal of clinical medicine

Choi KY, Lee JJ, Gunasekaran TI, Kang S, Lee W, Jeong J, Lim HJ, Zhang X, Zhu C, Won SY, Choi YY, Seo EH, Lee SC, Gim J, Chung JY, Chong A, Byun MS, Seo S, Ko PW, Han JW, McLean C, Farrell J, Lunetta KL, Miyashita A, Hara N, Won S, Choi SM, Ha JM, Jeong JH, Kuwano R, Song MK, An SSA, Lee YM, Park KW, Lee HW, Choi SH, Rhee S, Song WK, Lee JS, Mayeux R, Haines JL, Pericak-Vance MA, Choo ILH, Nho K, Kim KW, Lee DY, Kim S, Kim BC, Kim H, Jun GR, Schellenberg GD, Ikeuchi T, Farrer LA, Lee KH, Neuroimaging Initative AD.
PMID: 31426376
J Clin Med. 2019 Aug 16;8(8). doi: 10.3390/jcm8081236.

Variants in the

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Choi KY, Lee JJ, Gunasekaran TI, et al. . J Clin Med. 2019;8(8)doi: 10.3390/jcm8081236.
Choi, K. Y., Lee, J. J., Gunasekaran, T. I., Kang, S., Lee, W., Jeong, J., Lim, H. J., Zhang, X., Zhu, C., Won, S. Y., Choi, Y. Y., Seo, E. H., Lee, S. C., Gim, J., Chung, J. Y., Chong, A., Byun, M. S., Seo, S., Ko, P. W., Han, J. W., McLean, C., Farrell, J., Lunetta, K. L., Miyashita, A., Hara, N., Won, S., Choi, S. M., Ha, J. M., Jeong, J. H., Kuwano, R., Song, M. K., An, S. S. A., Lee, Y. M., Park, K. W., Lee, H. W., Choi, S. H., Rhee, S., Song, W. K., Lee, J. S., Mayeux, R., Haines, J. L., Pericak-Vance, M. A., Choo, I. L. H., Nho, K., Kim, K. W., Lee, D. Y., Kim, S., Kim, B. C., Kim, H., Jun, G. R., Schellenberg, G. D., Ikeuchi, T., Farrer, L. A., Lee, K. H., & Neuroimaging Initative, A. D. (2019). . Journal of clinical medicine, 8(8), . https://doi.org/10.3390/jcm8081236
Choi, Kyu Yeong, et al. "." Journal of clinical medicine vol. 8,8 (2019). doi: https://doi.org/10.3390/jcm8081236
Choi KY, Lee JJ, Gunasekaran TI, Kang S, Lee W, Jeong J, Lim HJ, Zhang X, Zhu C, Won SY, Choi YY, Seo EH, Lee SC, Gim J, Chung JY, Chong A, Byun MS, Seo S, Ko PW, Han JW, McLean C, Farrell J, Lunetta KL, Miyashita A, Hara N, Won S, Choi SM, Ha JM, Jeong JH, Kuwano R, Song MK, An SSA, Lee YM, Park KW, Lee HW, Choi SH, Rhee S, Song WK, Lee JS, Mayeux R, Haines JL, Pericak-Vance MA, Choo ILH, Nho K, Kim KW, Lee DY, Kim S, Kim BC, Kim H, Jun GR, Schellenberg GD, Ikeuchi T, Farrer LA, Lee KH, Neuroimaging Initative AD. . J Clin Med. 2019 Aug 16;8(8). doi: 10.3390/jcm8081236. PMID: 31426376; PMCID: PMC6723529.
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Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease.

Annals of clinical and translational neurology

Raghavan NS, Brickman AM, Andrews H, Manly JJ, Schupf N, Lantigua R, Wolock CJ, Kamalakaran S, Petrovski S, Tosto G, Vardarajan BN, Goldstein DB, Mayeux R.
PMID: 30009200
Ann Clin Transl Neurol. 2018 May 24;5(7):832-842. doi: 10.1002/acn3.582. eCollection 2018 Jul.

OBJECTIVE: The genetic bases of Alzheimer's disease remain uncertain. An international effort to fully articulate genetic risks and protective factors is underway with the hope of identifying potential therapeutic targets and preventive strategies. The goal here was to identify...

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Raghavan NS, Brickman AM, Andrews H, et al. Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease. Ann Clin Transl Neurol. 2018;5(7):832-842doi: 10.1002/acn3.582.
Raghavan, N. S., Brickman, A. M., Andrews, H., Manly, J. J., Schupf, N., Lantigua, R., Wolock, C. J., Kamalakaran, S., Petrovski, S., Tosto, G., Vardarajan, B. N., Goldstein, D. B., Mayeux, R. (2018). Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease. Annals of clinical and translational neurology, 5(7), 832-842. https://doi.org/10.1002/acn3.582
Raghavan, Neha S, et al. "Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease." Annals of clinical and translational neurology vol. 5,7 (2018): 832-842. doi: https://doi.org/10.1002/acn3.582
Raghavan NS, Brickman AM, Andrews H, Manly JJ, Schupf N, Lantigua R, Wolock CJ, Kamalakaran S, Petrovski S, Tosto G, Vardarajan BN, Goldstein DB, Mayeux R. Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease. Ann Clin Transl Neurol. 2018 May 24;5(7):832-842. doi: 10.1002/acn3.582. eCollection 2018 Jul. PMID: 30009200; PMCID: PMC6043775.
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Stem cell-derived neurons reflect features of protein networks, neuropathology, and cognitive outcome of their aged human donors.

Neuron

Lagomarsino VN, Pearse RV, Liu L, Hsieh YC, Fernandez MA, Vinton EA, Paull D, Felsky D, Tasaki S, Gaiteri C, Vardarajan B, Lee H, Muratore CR, Benoit CR, Chou V, Fancher SB, He A, Merchant JP, Duong DM, Martinez H, Zhou M, Bah F, Vicent MA, Stricker JMS, Xu J, Dammer EB, Levey AI, Chibnik LB, Menon V, Seyfried NT, De Jager PL, Noggle S, Selkoe DJ, Bennett DA, Young-Pearse TL.
PMID: 34473944
Neuron. 2021 Nov 03;109(21):3402-3420.e9. doi: 10.1016/j.neuron.2021.08.003. Epub 2021 Sep 01.

We have generated a controlled and manipulable resource that captures genetic risk for Alzheimer's disease: iPSC lines from 53 individuals coupled with RNA and proteomic profiling of both iPSC-derived neurons and brain tissue of the same individuals. Data collected...

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Lagomarsino VN, Pearse RV, Liu L, et al. Stem cell-derived neurons reflect features of protein networks, neuropathology, and cognitive outcome of their aged human donors. Neuron. 2021;109(21):3402-3420.e9doi: 10.1016/j.neuron.2021.08.003.
Lagomarsino, V. N., Pearse, R. V., Liu, L., Hsieh, Y. C., Fernandez, M. A., Vinton, E. A., Paull, D., Felsky, D., Tasaki, S., Gaiteri, C., Vardarajan, B., Lee, H., Muratore, C. R., Benoit, C. R., Chou, V., Fancher, S. B., He, A., Merchant, J. P., Duong, D. M., Martinez, H., Zhou, M., Bah, F., Vicent, M. A., Stricker, J. M. S., Xu, J., Dammer, E. B., Levey, A. I., Chibnik, L. B., Menon, V., Seyfried, N. T., De Jager, P. L., Noggle, S., Selkoe, D. J., Bennett, D. A., & Young-Pearse, T. L. (2021). Stem cell-derived neurons reflect features of protein networks, neuropathology, and cognitive outcome of their aged human donors. Neuron, 109(21), 3402-3420.e9. https://doi.org/10.1016/j.neuron.2021.08.003
Lagomarsino, Valentina N, et al. "Stem cell-derived neurons reflect features of protein networks, neuropathology, and cognitive outcome of their aged human donors." Neuron vol. 109,21 (2021): 3402-3420.e9. doi: https://doi.org/10.1016/j.neuron.2021.08.003
Lagomarsino VN, Pearse RV, Liu L, Hsieh YC, Fernandez MA, Vinton EA, Paull D, Felsky D, Tasaki S, Gaiteri C, Vardarajan B, Lee H, Muratore CR, Benoit CR, Chou V, Fancher SB, He A, Merchant JP, Duong DM, Martinez H, Zhou M, Bah F, Vicent MA, Stricker JMS, Xu J, Dammer EB, Levey AI, Chibnik LB, Menon V, Seyfried NT, De Jager PL, Noggle S, Selkoe DJ, Bennett DA, Young-Pearse TL. Stem cell-derived neurons reflect features of protein networks, neuropathology, and cognitive outcome of their aged human donors. Neuron. 2021 Nov 03;109(21):3402-3420.e9. doi: 10.1016/j.neuron.2021.08.003. Epub 2021 Sep 01. PMID: 34473944; PMCID: PMC8571042.
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Transcriptional programs regulating neuronal differentiation are disrupted in DLG2 knockout human embryonic stem cells and enriched for schizophrenia and related disorders risk variants.

Nature communications

Sanders B, D'Andrea D, Collins MO, Rees E, Steward TGJ, Zhu Y, Chapman G, Legge SE, Pardiñas AF, Harwood AJ, Gray WP, O'Donovan MC, Owen MJ, Errington AC, Blake DJ, Whitcomb DJ, Pocklington AJ, Shin E.
PMID: 35031607
Nat Commun. 2022 Jan 14;13(1):27. doi: 10.1038/s41467-021-27601-0.

Coordinated programs of gene expression drive brain development. It is unclear which transcriptional programs, in which cell-types, are affected in neuropsychiatric disorders such as schizophrenia. Here we integrate human genetics with transcriptomic data from differentiation of human embryonic stem...

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Sanders B, D'Andrea D, Collins MO, et al. Transcriptional programs regulating neuronal differentiation are disrupted in DLG2 knockout human embryonic stem cells and enriched for schizophrenia and related disorders risk variants. Nat Commun. 2022;13(1):27doi: 10.1038/s41467-021-27601-0.
Sanders, B., D'Andrea, D., Collins, M. O., Rees, E., Steward, T. G. J., Zhu, Y., Chapman, G., Legge, S. E., Pardiñas, A. F., Harwood, A. J., Gray, W. P., O'Donovan, M. C., Owen, M. J., Errington, A. C., Blake, D. J., Whitcomb, D. J., Pocklington, A. J., & Shin, E. (2022). Transcriptional programs regulating neuronal differentiation are disrupted in DLG2 knockout human embryonic stem cells and enriched for schizophrenia and related disorders risk variants. Nature communications, 13(1), 27. https://doi.org/10.1038/s41467-021-27601-0
Sanders, Bret, et al. "Transcriptional programs regulating neuronal differentiation are disrupted in DLG2 knockout human embryonic stem cells and enriched for schizophrenia and related disorders risk variants." Nature communications vol. 13,1 (2022): 27. doi: https://doi.org/10.1038/s41467-021-27601-0
Sanders B, D'Andrea D, Collins MO, Rees E, Steward TGJ, Zhu Y, Chapman G, Legge SE, Pardiñas AF, Harwood AJ, Gray WP, O'Donovan MC, Owen MJ, Errington AC, Blake DJ, Whitcomb DJ, Pocklington AJ, Shin E. Transcriptional programs regulating neuronal differentiation are disrupted in DLG2 knockout human embryonic stem cells and enriched for schizophrenia and related disorders risk variants. Nat Commun. 2022 Jan 14;13(1):27. doi: 10.1038/s41467-021-27601-0. PMID: 35031607.
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Integrated Genomic, Transcriptomic and Proteomic Analysis for Identifying Markers of Alzheimer's Disease.

Diagnostics (Basel, Switzerland)

Madrid L, Labrador SC, González-Pérez A, Sáez ME, The Alzheimer's Disease Neuroimaging Initiative Adni.
PMID: 34943540
Diagnostics (Basel). 2021 Dec 08;11(12). doi: 10.3390/diagnostics11122303.

There is an urgent need to identify biomarkers for Alzheimer's disease (AD), but the identification of reliable blood-based biomarkers has proven to be much more difficult than initially expected. The current availability of high-throughput multi-omics data opens new possibilities...

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Madrid L, Labrador SC, González-Pérez A, et al. Integrated Genomic, Transcriptomic and Proteomic Analysis for Identifying Markers of Alzheimer's Disease. Diagnostics (Basel). 2021;11(12)doi: 10.3390/diagnostics11122303.
Madrid, L., Labrador, S. C., González-Pérez, A., Sáez, M. E., & The Alzheimer's Disease Neuroimaging Initiative Adni. (2021). Integrated Genomic, Transcriptomic and Proteomic Analysis for Identifying Markers of Alzheimer's Disease. Diagnostics (Basel, Switzerland), 11(12), . https://doi.org/10.3390/diagnostics11122303
Madrid, Laura, et al. "Integrated Genomic, Transcriptomic and Proteomic Analysis for Identifying Markers of Alzheimer's Disease." Diagnostics (Basel, Switzerland) vol. 11,12 (2021). doi: https://doi.org/10.3390/diagnostics11122303
Madrid L, Labrador SC, González-Pérez A, Sáez ME, The Alzheimer's Disease Neuroimaging Initiative Adni. Integrated Genomic, Transcriptomic and Proteomic Analysis for Identifying Markers of Alzheimer's Disease. Diagnostics (Basel). 2021 Dec 08;11(12). doi: 10.3390/diagnostics11122303. PMID: 34943540; PMCID: PMC8700271.
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Modeling multifunctionality of genes with secondary gene co-expression networks in human brain provides novel disease insights.

Bioinformatics (Oxford, England)

Sánchez JA, Gil-Martinez AL, Cisterna A, García-Ruíz S, Gómez-Pascual A, Reynolds RH, Nalls M, Hardy J, Ryten M, Botía JA.
PMID: 33734320
Bioinformatics. 2021 Mar 17; doi: 10.1093/bioinformatics/btab175. Epub 2021 Mar 17.

MOTIVATION: Co-expression networks are a powerful gene expression analysis method to study how genes co-express together in clusters with functional coherence that usually resemble specific cell type behaviour for the genes involved. They can be applied to bulk-tissue gene...

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Sánchez JA, Gil-Martinez AL, Cisterna A, et al. Modeling multifunctionality of genes with secondary gene co-expression networks in human brain provides novel disease insights. Bioinformatics. 2021;doi: 10.1093/bioinformatics/btab175.
Sánchez, J. A., Gil-Martinez, A. L., Cisterna, A., García-Ruíz, S., Gómez-Pascual, A., Reynolds, R. H., Nalls, M., Hardy, J., Ryten, M., & Botía, J. A. (2021). Modeling multifunctionality of genes with secondary gene co-expression networks in human brain provides novel disease insights. Bioinformatics (Oxford, England), . https://doi.org/10.1093/bioinformatics/btab175
Sánchez, Juan A, et al. "Modeling multifunctionality of genes with secondary gene co-expression networks in human brain provides novel disease insights." Bioinformatics (Oxford, England) vol. (2021). doi: https://doi.org/10.1093/bioinformatics/btab175
Sánchez JA, Gil-Martinez AL, Cisterna A, García-Ruíz S, Gómez-Pascual A, Reynolds RH, Nalls M, Hardy J, Ryten M, Botía JA. Modeling multifunctionality of genes with secondary gene co-expression networks in human brain provides novel disease insights. Bioinformatics. 2021 Mar 17; doi: 10.1093/bioinformatics/btab175. Epub 2021 Mar 17. PMID: 33734320; PMCID: PMC8479669.
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The Alzheimer's Disease Sequencing Project: Study design and sample selection.

Neurology. Genetics

Beecham GW, Bis JC, Martin ER, Choi SH, DeStefano AL, van Duijn CM, Fornage M, Gabriel SB, Koboldt DC, Larson DE, Naj AC, Psaty BM, Salerno W, Bush WS, Foroud TM, Wijsman E, Farrer LA, Goate A, Haines JL, Pericak-Vance MA, Boerwinkle E, Mayeux R, Seshadri S, Schellenberg G.
PMID: 29184913
Neurol Genet. 2017 Oct 13;3(5):e194. doi: 10.1212/NXG.0000000000000194. eCollection 2017 Oct.

No abstract available.

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Beecham GW, Bis JC, Martin ER, et al. The Alzheimer's Disease Sequencing Project: Study design and sample selection. Neurol Genet. 2017;3(5):e194doi: 10.1212/NXG.0000000000000194.
Beecham, G. W., Bis, J. C., Martin, E. R., Choi, S. H., DeStefano, A. L., van Duijn, C. M., Fornage, M., Gabriel, S. B., Koboldt, D. C., Larson, D. E., Naj, A. C., Psaty, B. M., Salerno, W., Bush, W. S., Foroud, T. M., Wijsman, E., Farrer, L. A., Goate, A., Haines, J. L., Pericak-Vance, M. A., Boerwinkle, E., Mayeux, R., Seshadri, S., & Schellenberg, G. (2017). The Alzheimer's Disease Sequencing Project: Study design and sample selection. Neurology. Genetics, 3(5), e194. https://doi.org/10.1212/NXG.0000000000000194
Beecham, Gary W, et al. "The Alzheimer's Disease Sequencing Project: Study design and sample selection." Neurology. Genetics vol. 3,5 (2017): e194. doi: https://doi.org/10.1212/NXG.0000000000000194
Beecham GW, Bis JC, Martin ER, Choi SH, DeStefano AL, van Duijn CM, Fornage M, Gabriel SB, Koboldt DC, Larson DE, Naj AC, Psaty BM, Salerno W, Bush WS, Foroud TM, Wijsman E, Farrer LA, Goate A, Haines JL, Pericak-Vance MA, Boerwinkle E, Mayeux R, Seshadri S, Schellenberg G. The Alzheimer's Disease Sequencing Project: Study design and sample selection. Neurol Genet. 2017 Oct 13;3(5):e194. doi: 10.1212/NXG.0000000000000194. eCollection 2017 Oct. PMID: 29184913; PMCID: PMC5646177.
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An efficient analytic approach in genome-wide identification of methylation quantitative trait loci response to fenofibrate treatment.

BMC proceedings

Cox JW, Patel D, Chung J, Zhu C, Lent S, Fisher V, Pitsillides A, Farrer L, Zhang X.
PMID: 30275893
BMC Proc. 2018 Sep 17;12:44. doi: 10.1186/s12919-018-0152-7. eCollection 2018.

BACKGROUND: The study of DNA methylation quantitative trait loci (meQTLs) helps dissect regulatory mechanisms underlying genetic associations of human diseases. In this study, we conducted the first genome-wide examination of genetic drivers of methylation variation in response to a...

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Cox JW, Patel D, Chung J, et al. An efficient analytic approach in genome-wide identification of methylation quantitative trait loci response to fenofibrate treatment. BMC Proc. 2018;12:44doi: 10.1186/s12919-018-0152-7.
Cox, J. W., Patel, D., Chung, J., Zhu, C., Lent, S., Fisher, V., Pitsillides, A., Farrer, L., & Zhang, X. (2018). An efficient analytic approach in genome-wide identification of methylation quantitative trait loci response to fenofibrate treatment. BMC proceedings, 1244. https://doi.org/10.1186/s12919-018-0152-7
Cox, Jiayi Wu, et al. "An efficient analytic approach in genome-wide identification of methylation quantitative trait loci response to fenofibrate treatment." BMC proceedings vol. 12 (2018): 44. doi: https://doi.org/10.1186/s12919-018-0152-7
Cox JW, Patel D, Chung J, Zhu C, Lent S, Fisher V, Pitsillides A, Farrer L, Zhang X. An efficient analytic approach in genome-wide identification of methylation quantitative trait loci response to fenofibrate treatment. BMC Proc. 2018 Sep 17;12:44. doi: 10.1186/s12919-018-0152-7. eCollection 2018. PMID: 30275893; PMCID: PMC6157188.
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Genomic Copy Number Analysis in Alzheimer's Disease and Mild Cognitive Impairment: An ADNI Study.

International journal of Alzheimer's disease

Swaminathan S, Kim S, Shen L, Risacher SL, Foroud T, Pankratz N, Potkin SG, Huentelman MJ, Craig DW, Weiner MW, Saykin AJ, The Alzheimer's Disease Neuroimaging Initiative Adni.
PMID: 21660214
Int J Alzheimers Dis. 2011;2011:729478. doi: 10.4061/2011/729478. Epub 2011 Jun 02.

Copy number variants (CNVs) are DNA sequence alterations, resulting in gains (duplications) and losses (deletions) of genomic segments. They often overlap genes and may play important roles in disease. Only one published study has examined CNVs in late-onset Alzheimer's...

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Swaminathan S, Kim S, Shen L, et al. Genomic Copy Number Analysis in Alzheimer's Disease and Mild Cognitive Impairment: An ADNI Study. Int J Alzheimers Dis. 2011;2011:729478doi: 10.4061/2011/729478.
Swaminathan, S., Kim, S., Shen, L., Risacher, S. L., Foroud, T., Pankratz, N., Potkin, S. G., Huentelman, M. J., Craig, D. W., Weiner, M. W., Saykin, A. J., & The Alzheimer's Disease Neuroimaging Initiative Adni. (2011). Genomic Copy Number Analysis in Alzheimer's Disease and Mild Cognitive Impairment: An ADNI Study. International journal of Alzheimer's disease, 2011729478. https://doi.org/10.4061/2011/729478
Swaminathan, Shanker, et al. "Genomic Copy Number Analysis in Alzheimer's Disease and Mild Cognitive Impairment: An ADNI Study." International journal of Alzheimer's disease vol. 2011 (2011): 729478. doi: https://doi.org/10.4061/2011/729478
Swaminathan S, Kim S, Shen L, Risacher SL, Foroud T, Pankratz N, Potkin SG, Huentelman MJ, Craig DW, Weiner MW, Saykin AJ, The Alzheimer's Disease Neuroimaging Initiative Adni. Genomic Copy Number Analysis in Alzheimer's Disease and Mild Cognitive Impairment: An ADNI Study. Int J Alzheimers Dis. 2011;2011:729478. doi: 10.4061/2011/729478. Epub 2011 Jun 02. PMID: 21660214; PMCID: PMC3109875.
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Rare variants in the endocytic pathway are associated with Alzheimer's disease, its related phenotypes, and functional consequences.

PLoS genetics

Zhan L, Li J, Jew B, Sul JH.
PMID: 34516545
PLoS Genet. 2021 Sep 13;17(9):e1009772. doi: 10.1371/journal.pgen.1009772. eCollection 2021 Sep.

Late-onset Alzheimer's disease (LOAD) is the most common type of dementia causing irreversible brain damage to the elderly and presents a major public health challenge. Clinical research and genome-wide association studies have suggested a potential contribution of the endocytic...

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Zhan L, Li J, Jew B, et al. Rare variants in the endocytic pathway are associated with Alzheimer's disease, its related phenotypes, and functional consequences. PLoS Genet. 2021;17(9):e1009772doi: 10.1371/journal.pgen.1009772.
Zhan, L., Li, J., Jew, B., & Sul, J. H. (2021). Rare variants in the endocytic pathway are associated with Alzheimer's disease, its related phenotypes, and functional consequences. PLoS genetics, 17(9), e1009772. https://doi.org/10.1371/journal.pgen.1009772
Zhan, Lingyu, et al. "Rare variants in the endocytic pathway are associated with Alzheimer's disease, its related phenotypes, and functional consequences." PLoS genetics vol. 17,9 (2021): e1009772. doi: https://doi.org/10.1371/journal.pgen.1009772
Zhan L, Li J, Jew B, Sul JH. Rare variants in the endocytic pathway are associated with Alzheimer's disease, its related phenotypes, and functional consequences. PLoS Genet. 2021 Sep 13;17(9):e1009772. doi: 10.1371/journal.pgen.1009772. eCollection 2021 Sep. PMID: 34516545; PMCID: PMC8460036.
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Polygenic risk score for Alzheimer's disease and trajectories of cardiometabolic risk factors in children.

Wellcome open research

Korologou-Linden R, O'Keeffe L, Howe LD, Davey-Smith G, Jones HJ, Anderson EL, Stergiakouli E.
PMID: 31984241
Wellcome Open Res. 2019 Aug 20;4:125. doi: 10.12688/wellcomeopenres.15359.1. eCollection 2019.

No abstract available.

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Korologou-Linden R, O'Keeffe L, Howe LD, et al. Polygenic risk score for Alzheimer's disease and trajectories of cardiometabolic risk factors in children. Wellcome Open Res. 2019;4:125doi: 10.12688/wellcomeopenres.15359.1.
Korologou-Linden, R., O'Keeffe, L., Howe, L. D., Davey-Smith, G., Jones, H. J., Anderson, E. L., & Stergiakouli, E. (2019). Polygenic risk score for Alzheimer's disease and trajectories of cardiometabolic risk factors in children. Wellcome open research, 4125. https://doi.org/10.12688/wellcomeopenres.15359.1
Korologou-Linden, Roxanna, et al. "Polygenic risk score for Alzheimer's disease and trajectories of cardiometabolic risk factors in children." Wellcome open research vol. 4 (2019): 125. doi: https://doi.org/10.12688/wellcomeopenres.15359.1
Korologou-Linden R, O'Keeffe L, Howe LD, Davey-Smith G, Jones HJ, Anderson EL, Stergiakouli E. Polygenic risk score for Alzheimer's disease and trajectories of cardiometabolic risk factors in children. Wellcome Open Res. 2019 Aug 20;4:125. doi: 10.12688/wellcomeopenres.15359.1. eCollection 2019. PMID: 31984241; PMCID: PMC6971849.
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