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Biblio

Author Title [ Type(Desc)] Year
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Journal Article
Fernández MVictoria, Kim JHun, Budde JP, Black K, Medvedeva A, Saef B, Deming Y, Del-Aguila J, Ibañez L, Dube U et al..  2017.  Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.. PLoS Genet. 13(11):e1007045.
Davis AA, Inman CE, Wargel ZM, Dube U, Freeberg BM, Galluppi A, Haines JN, Dhavale DD, Miller R, Choudhury FA et al..  2020.  APOE genotype regulates pathology and disease progression in synucleinopathy.. Sci Transl Med. 12(529)
Dube U, Del-Aguila JL, Li Z, Budde JP, Jiang S, Hsu S, Ibañez L, Fernández MVictoria, Farias F, Norton J et al..  2019.  An atlas of cortical circular RNA expression in Alzheimer disease brains demonstrates clinical and pathological associations.. Nat Neurosci. 22(11):1903-1912.
Castillo-Barnes D, Su L, Ramírez J, Salas-Gonzalez D, Martinez-Murcia FJ, Illan IA, Segovia F, Ortiz A, Cruchaga C, Farlow MR et al..  2020.  Autosomal Dominantly Inherited Alzheimer Disease: Analysis of genetic subgroups by Machine Learning.. Inf Fusion. 58:153-167.
Fernández MV, Budde J, Del-Aguila JL, Ibañez L, Deming Y, Harari O, Norton J, Morris JC, Goate AM, Cruchaga C.  2018.  Evaluation of Gene-Based Family-Based Methods to Detect Novel Genes Associated With Familial Late Onset Alzheimer Disease.. Front Neurosci. 12:209.
Olive C, Ibañez L, Farias FHGeraldo, Wang F, Budde JP, Norton JB, Gentsch J, Morris JC, Li Z, Dube U et al..  2020.  Examination of the Effect of Rare Variants in TREM2, ABI3, and PLCG2 in LOAD Through Multiple Phenotypes.. J Alzheimers Dis. 77(4):1469-1482.
Ibañez L, Bahena JA, Yang C, Dube U, Farias FHG, Budde JP, Bergmann K, Brenner-Webster C, Morris JC, Perrin RJ et al..  2020.  Functional genomic analyses uncover APOE-mediated regulation of brain and cerebrospinal fluid beta-amyloid levels in Parkinson disease.. Acta Neuropathol Commun. 8(1):196.
Baker E, Sims R, Leonenko G, Frizzati A, Harwood JC, Grozeva D, Morgan K, Passmore P, Holmes C, Powell J et al..  2019.  Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer's disease.. PLoS One. 14(7):e0218111.
Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A et al..  2019.  Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.. Nat Genet. 51(3):414-430.
Dumitrescu L, Mahoney ER, Mukherjee S, Lee ML, Bush WS, Engelman CD, Lu Q, Fardo DW, Trittschuh EH, Mez J et al..  2020.  Genetic variants and functional pathways associated with resilience to Alzheimer's disease.. Brain. 143(8):2561-2575.
Blue EE, Bis JC, Dorschner MO, Tsuang DW, Barral SM, Beecham G, Below JE, Bush WS, Butkiewicz M, Cruchaga C et al..  2018.  Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project.. Dement Geriatr Cogn Disord. 45(1-2):1-17.
Yan Q, Nho K, Del-Aguila JL, Wang X, Risacher SL, Fan K-H, Snitz BE, Aizenstein HJ, Mathis CA, Lopez OL et al..  2021.  Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging.. Mol Psychiatry. 26(1):309-321.
Sherva R, Gross A, Mukherjee S, Koesterer R, Amouyel P, Bellenguez C, Dufouil C, Bennett DA, Chibnik L, Cruchaga C et al..  2020.  Genome-wide association study of rate of cognitive decline in Alzheimer's disease patients identifies novel genes and pathways.. Alzheimers Dement. 16(8):1134-1145.
Ewers M, Biechele G, Suárez-Calvet M, Sacher C, Blume T, Morenas-Rodriguez E, Deming Y, Piccio L, Cruchaga C, Kleinberger G et al..  2020.  Higher CSF sTREM2 and microglia activation are associated with slower rates of beta-amyloid accumulation.. EMBO Mol Med. 12(9):e12308.
Jiang S, Wen N, Li Z, Dube U, Del Aguila J, Budde J, Martinez R, Hsu S, Fernández MV, Cairns NJ et al..  2018.  Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP.. Transl Psychiatry. 8(1):265.
Kirola L, Budde JP, Wang F, Norton J, Morris JC, Cruchaga C, Fernández MVictoria.  2021.  Lack of evidence supporting a role for DPP6 sequence variants in Alzheimer's disease in the European American population.. Acta Neuropathol. 141(4):623-624.
Moreno-Grau S, Fernández MVictoria, de Rojas I, García-González P, Hernández I, Farias F, Budde JP, Quintela I, Madrid L, González-Perez A et al..  2021.  Long runs of homozygosity are associated with Alzheimer's disease.. Transl Psychiatry. 11(1):142.
Damotte V, van der Lee SJ, Chouraki V, Grenier-Boley B, Simino J, Adams H, Tosto G, White C, Terzikhan N, Cruchaga C et al..  2021.  Plasma amyloid β levels are driven by genetic variants near APOE, BACE1, APP, PSEN2: A genome-wide association study in over 12,000 non-demented participants.. Alzheimers Dement. 17(10):1663-1674.
Dumitrescu L, Barnes LL, Thambisetty M, Beecham G, Kunkle B, Bush WS, Gifford KA, Chibnik LB, Mukherjee S, De Jager PL et al..  2019.  Sex differences in the genetic predictors of Alzheimer's pathology.. Brain. 142(9):2581-2589.
Deming Y, Dumitrescu L, Barnes LL, Thambisetty M, Kunkle B, Gifford KA, Bush WS, Chibnik LB, Mukherjee S, De Jager PL et al..  2018.  Sex-specific genetic predictors of Alzheimer's disease biomarkers.. Acta Neuropathol. 136(6):857-872.
Del-Aguila JL, Li Z, Dube U, Mihindukulasuriya KA, Budde JP, Fernández MVictoria, Ibañez L, Bradley J, Wang F, Bergmann K et al..  2019.  A single-nuclei RNA sequencing study of Mendelian and sporadic AD in the human brain.. Alzheimers Res Ther. 11(1):71.
Li Z, Farias FHG, Dube U, Del-Aguila JL, Mihindukulasuriya KA, Fernández MVictoria, Ibañez L, Budde JP, Wang F, Lake AM et al..  2020.  The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion.. Acta Neuropathol. 139(1):45-61.
Cignarella F, Filipello F, Bollman B, Cantoni C, Locca A, Mikesell R, Manis M, Ibrahim A, Deng L, Benitez BA et al..  2020.  TREM2 activation on microglia promotes myelin debris clearance and remyelination in a model of multiple sclerosis.. Acta Neuropathol. 140(4):513-534.
Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE et al..  2018.  Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.. Mol Psychiatry.
Lananna BV, McKee CA, King MW, Del-Aguila JL, Dimitry JM, Farias FHG, Nadarajah CJ, Xiong DD, Guo C, Cammack AJ et al..  2020.  /YKL-40 is controlled by the astrocyte circadian clock and regulates neuroinflammation and Alzheimer's disease pathogenesis.. Sci Transl Med. 12(574)

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