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Genome-wide meta-analysis for Alzheimer's disease cerebrospinal fluid biomarkers.
Jansen IE, van der Lee SJ, Gomez-Fonseca D, de Rojas I, Dalmasso MC, Grenier-Boley B, Zettergren A, Mishra A, Ali M, Andrade V, Bellenguez C, Kleineidam L, Küçükali F, Sung YJ, Tesí N, Vromen EM, Wightman DP, Alcolea D, Alegret M, Alvarez I, Amouyel P, Athanasiu L, Bahrami S, Bailly H, Belbin O, Bergh S, Bertram L, Biessels GJ, Blennow K, Blesa R, Boada M, Boland A, Buerger K, Carracedo Á, Cervera-Carles L, Chene G, Claassen JAHR, Debette S, Deleuze JF, de Deyn PP, Diehl-Schmid J, Djurovic S, Dols-Icardo O, Dufouil C, Duron E, Düzel E; EADB consortium; Fladby T, Fortea J, Frölich L, García-González P, Garcia-Martinez M, Giegling I, Goldhardt O, Gobom J, Grimmer T, Haapasalo A, Hampel H, Hanon O, Hausner L, Heilmann-Heimbach S, Helisalmi S, Heneka MT, Hernández I, Herukka SK, Holstege H, Jarholm J, Kern S, Knapskog AB, Koivisto AM, Kornhuber J, Kuulasmaa T, Lage C, Laske C, Leinonen V, Lewczuk P, Lleó A, de Munain AL, Lopez-Garcia S, Maier W, Marquié M, Mol MO, Montrreal L, Moreno F, Moreno-Grau S, Nicolas G, Nöthen MM, Orellana A, Pålhaugen L, Papma JM, Pasquier F, Perneczky R, Peters O, Pijnenburg YAL, Popp J, Posthuma D, Pozueta A, Priller J, Puerta R, Quintela I, Ramakers I, Ro… See abstract for full author list ➔ Jansen IE, et al. Acta Neuropathol. 2022 Nov;144(5):821-842. doi: 10.1007/s00401-022-02454-z. Epub 2022 Sep 6. Acta Neuropathol. 2022. PMID: 36066633 Free PMC article.
Genome-wide association study of rate of cognitive decline in Alzheimer's disease patients identifies novel genes and pathways.
Sherva R, Gross A, Mukherjee S, Koesterer R, Amouyel P, Bellenguez C, Dufouil C, Bennett DA, Chibnik L, Cruchaga C, Del-Aguila J, Farrer LA, Mayeux R, Munsie L, Winslow A, Newhouse S, Saykin AJ, Kauwe JSK; Alzheimer's Disease Genetics Consortium; Crane PK, Green RC. Sherva R, et al. Alzheimers Dement. 2020 Aug;16(8):1134-1145. doi: 10.1002/alz.12106. Epub 2020 Jun 23. Alzheimers Dement. 2020. PMID: 32573913 Free PMC article.
The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion.
Li Z, Farias FHG, Dube U, Del-Aguila JL, Mihindukulasuriya KA, Fernandez MV, Ibanez L, Budde JP, Wang F, Lake AM, Deming Y, Perez J, Yang C, Bahena JA, Qin W, Bradley JL, Davenport R, Bergmann K, Morris JC, Perrin RJ, Benitez BA, Dougherty JD, Harari O, Cruchaga C. Li Z, et al. Acta Neuropathol. 2020 Jan;139(1):45-61. doi: 10.1007/s00401-019-02066-0. Epub 2019 Aug 27. Acta Neuropathol. 2020. PMID: 31456032 Free PMC article.
TREM2 brain transcript-specific studies in AD and TREM2 mutation carriers.
Del-Aguila JL, Benitez BA, Li Z, Dube U, Mihindukulasuriya KA, Budde JP, Farias FHG, Fernández MV, Ibanez L, Jiang S, Perrin RJ, Cairns NJ, Morris JC, Harari O, Cruchaga C. Del-Aguila JL, et al. Mol Neurodegener. 2019 May 8;14(1):18. doi: 10.1186/s13024-019-0319-3. Mol Neurodegener. 2019. PMID: 31068200 Free PMC article.
Altered Abeta formation and long-term potentiation in a calsenilin knock-out.
Lilliehook C, Bozdagi O, Yao J, Gomez-Ramirez M, Zaidi NF, Wasco W, Gandy S, Santucci AC, Haroutunian V, Huntley GW, Buxbaum JD. Lilliehook C, et al. J Neurosci. 2003 Oct 8;23(27):9097-106. doi: 10.1523/JNEUROSCI.23-27-09097.2003. J Neurosci. 2003. PMID: 14534243 Free PMC article.