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Page 1
Exome Chip Analysis Identifies Low-Frequency and Rare Variants in MRPL38 for White Matter Hyperintensities on Brain Magnetic Resonance Imaging.
Jian X, Satizabal CL, Smith AV, Wittfeld K, Bis JC, Smith JA, Hsu FC, Nho K, Hofer E, Hagenaars SP, Nyquist PA, Mishra A, Adams HHH, Li S, Teumer A, Zhao W, Freedman BI, Saba Y, Yanek LR, Chauhan G, van Buchem MA, Cushman M, Royle NA, Bryan RN, Niessen WJ, Windham BG, DeStefano AL, Habes M, Heckbert SR, Palmer ND, Lewis CE, Eiriksdottir G, Maillard P, Mathias RA, Homuth G, Valdés-Hernández MDC, Divers J, Beiser AS, Langner S, Rice KM, Bastin ME, Yang Q, Maldjian JA, Starr JM, Sidney S, Risacher SL, Uitterlinden AG, Gudnason VG, Nauck M, Rotter JI, Schreiner PJ, Boerwinkle E, van Duijn CM, Mazoyer B, von Sarnowski B, Gottesman RF, Levy D, Sigurdsson S, Vernooij MW, Turner ST, Schmidt R, Wardlaw JM, Psaty BM, Mosley TH, DeCarli CS, Saykin AJ, Bowden DW, Becker DM, Deary IJ, Schmidt H, Kardia SLR, Ikram MA, Debette S, Grabe HJ, Longstreth WT Jr, Seshadri S, Launer LJ, Fornage M; neuroCHARGE Working Group. Jian X, et al. Among authors: li s. Stroke. 2018 Aug;49(8):1812-1819. doi: 10.1161/STROKEAHA.118.020689. Stroke. 2018. PMID: 30002152 Free PMC article.
Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects.
Mishra A, Chauhan G, Violleau MH, Vojinovic D, Jian X, Bis JC, Li S, Saba Y, Grenier-Boley B, Yang Q, Bartz TM, Hofer E, Soumaré A, Peng F, Duperron MG, Foglio M, Mosley TH, Schmidt R, Psaty BM, Launer LJ, Boerwinkle E, Zhu Y, Mazoyer B, Lathrop M, Bellenguez C, Van Duijn CM, Ikram MA, Schmidt H, Longstreth WT, Fornage M, Seshadri S, Joutel A, Tzourio C, Debette S. Mishra A, et al. Among authors: li s. Brain. 2019 Apr 1;142(4):1009-1023. doi: 10.1093/brain/awz024. Brain. 2019. PMID: 30859180 Free PMC article.
Gene-mapping study of extremes of cerebral small vessel disease reveals TRIM47 as a strong candidate.
Mishra A, Duplaà C, Vojinovic D, Suzuki H, Sargurupremraj M, Zilhão NR, Li S, Bartz TM, Jian X, Zhao W, Hofer E, Wittfeld K, Harris SE, van der Auwera-Palitschka S, Luciano M, Bis JC, Adams HHH, Satizabal CL, Gottesman RF, Gampawar PG, Bülow R, Weiss S, Yu M, Bastin ME, Lopez OL, Vernooij MW, Beiser AS, Völker U, Kacprowski T, Soumare A, Smith JA, Knopman DS, Morris Z, Zhu Y, Rotter JI, Dufouil C, Valdés Hernández M, Muñoz Maniega S, Lathrop M, Boerwinkle E, Schmidt R, Ihara M, Mazoyer B, Yang Q, Joutel A, Tournier-Lasserve E, Launer LJ, Deary IJ, Mosley TH, Amouyel P, DeCarli CS, Psaty BM, Tzourio C, Kardia SLR, Grabe HJ, Teumer A, van Duijn CM, Schmidt H, Wardlaw JM, Ikram MA, Fornage M, Gudnason V, Seshadri S, Matthews PM, Longstreth WT, Couffinhal T, Debette S. Mishra A, et al. Among authors: li s. Brain. 2022 Jun 30;145(6):1992-2007. doi: 10.1093/brain/awab432. Brain. 2022. PMID: 35511193 Free PMC article.
Epigenetic and integrative cross-omics analyses of cerebral white matter hyperintensities on MRI.
Yang Y, Knol MJ, Wang R, Mishra A, Liu D, Luciano M, Teumer A, Armstrong N, Bis JC, Jhun MA, Li S, Adams HHH, Aziz NA, Bastin ME, Bourgey M, Brody JA, Frenzel S, Gottesman RF, Hosten N, Hou L, Kardia SLR, Lohner V, Marquis P, Maniega SM, Satizabal CL, Sorond FA, Valdés Hernández MC, van Duijn CM, Vernooij MW, Wittfeld K, Yang Q, Zhao W, Boerwinkle E, Levy D, Deary IJ, Jiang J, Mather KA, Mosley TH, Psaty BM, Sachdev PS, Smith JA, Sotoodehnia N, DeCarli CS, Breteler MMB, Ikram MA, Grabe HJ, Wardlaw J, Longstreth WT, Launer LJ, Seshadri S, Debette S, Fornage M. Yang Y, et al. Among authors: li s. Brain. 2023 Feb 13;146(2):492-506. doi: 10.1093/brain/awac290. Brain. 2023. PMID: 35943854 Free PMC article.
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, Sleegers K, Vronskaya M, Ruiz A, Graham RR, Olaso R, Hoffmann P, Grove ML, Vardarajan BN, Hiltunen M, Nöthen MM, White CC, Hamilton-Nelson KL, Epelbaum J, Maier W, Choi SH, Beecham GW, Dulary C, Herms S, Smith AV, Funk CC, Derbois C, Forstner AJ, Ahmad S, Li H, Bacq D, Harold D, Satizabal CL, Valladares O, Squassina A, Thomas R, Brody JA, Qu L, Sánchez-Juan P, Morgan T, Wolters FJ, Zhao Y, Garcia FS, Denning N, Fornage M, Malamon J, Naranjo MCD, Majounie E, Mosley TH, Dombroski B, Wallon D, Lupton MK, Dupuis J, Whitehead P, Fratiglioni L, Medway C, Jian X, Mukherjee S, Keller L, Brown K, Lin H, Cantwell LB, Panza F, McGuinness B, Moreno-Grau S, Burgess JD, Solfrizzi V, Proitsi P, Adams HH, Allen M, Seripa D, Pastor P, Cupples LA, Price ND, Hannequin D, Frank-García A, Levy D, Chakrabarty P, Caffarra P, Giegling I, Beiser AS, Giedraitis V, Hampel H, Garcia ME, Wang X, Lannfelt L, Mecocci P, Eiriksdottir G, Crane PK, Pasquier F, Boccardi V, Henández I, Barber RC, Scherer M, Tarraga L, Ada… See abstract for full author list ➔ Sims R, et al. Among authors: li s, li g, li h. Nat Genet. 2017 Sep;49(9):1373-1384. doi: 10.1038/ng.3916. Epub 2017 Jul 17. Nat Genet. 2017. PMID: 28714976 Free PMC article.
New insights into the genetic etiology of Alzheimer's disease and related dementias.
Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, Kuulasmaa T, Yang Q, de Rojas I, Bis JC, Yaqub A, Prokic I, Chapuis J, Ahmad S, Giedraitis V, Aarsland D, Garcia-Gonzalez P, Abdelnour C, Alarcón-Martín E, Alcolea D, Alegret M, Alvarez I, Álvarez V, Armstrong NJ, Tsolaki A, Antúnez C, Appollonio I, Arcaro M, Archetti S, Pastor AA, Arosio B, Athanasiu L, Bailly H, Banaj N, Baquero M, Barral S, Beiser A, Pastor AB, Below JE, Benchek P, Benussi L, Berr C, Besse C, Bessi V, Binetti G, Bizarro A, Blesa R, Boada M, Boerwinkle E, Borroni B, Boschi S, Bossù P, Bråthen G, Bressler J, Bresner C, Brodaty H, Brookes KJ, Brusco LI, Buiza-Rueda D, Bûrger K, Burholt V, Bush WS, Calero M, Cantwell LB, Chene G, Chung J, Cuccaro ML, Carracedo Á, Cecchetti R, Cervera-Carles L, Charbonnier C, Chen HH, Chillotti C, Ciccone S, Claassen JAHR, Clark C, Conti E, Corma-Gómez A, Costantini E, Custodero C, Daian D, Dalmasso MC, Daniele A, Dardiotis E, Dartigues JF, de Deyn PP, de Paiva Lopes K, de Witte LD, Debette S, Deckert J, Del Ser T, Denning N, DeStefano A, Dichgans M,… See abstract for full author list ➔ Bellenguez C, et al. Nat Genet. 2022 Apr;54(4):412-436. doi: 10.1038/s41588-022-01024-z. Epub 2022 Apr 4. Nat Genet. 2022. PMID: 35379992 Free PMC article.
Association of branched-chain amino acids and other circulating metabolites with risk of incident dementia and Alzheimer's disease: A prospective study in eight cohorts.
Tynkkynen J, Chouraki V, van der Lee SJ, Hernesniemi J, Yang Q, Li S, Beiser A, Larson MG, Sääksjärvi K, Shipley MJ, Singh-Manoux A, Gerszten RE, Wang TJ, Havulinna AS, Würtz P, Fischer K, Demirkan A, Ikram MA, Amin N, Lehtimäki T, Kähönen M, Perola M, Metspalu A, Kangas AJ, Soininen P, Ala-Korpela M, Vasan RS, Kivimäki M, van Duijn CM, Seshadri S, Salomaa V. Tynkkynen J, et al. Among authors: li s. Alzheimers Dement. 2018 Jun;14(6):723-733. doi: 10.1016/j.jalz.2018.01.003. Epub 2018 Mar 6. Alzheimers Dement. 2018. PMID: 29519576 Free PMC article.
Circulating metabolites and general cognitive ability and dementia: Evidence from 11 cohort studies.
van der Lee SJ, Teunissen CE, Pool R, Shipley MJ, Teumer A, Chouraki V, Melo van Lent D, Tynkkynen J, Fischer K, Hernesniemi J, Haller T, Singh-Manoux A, Verhoeven A, Willemsen G, de Leeuw FA, Wagner H, van Dongen J, Hertel J, Budde K, Willems van Dijk K, Weinhold L, Ikram MA, Pietzner M, Perola M, Wagner M, Friedrich N, Slagboom PE, Scheltens P, Yang Q, Gertzen RE, Egert S, Li S, Hankemeier T, van Beijsterveldt CEM, Vasan RS, Maier W, Peeters CFW, Jörgen Grabe H, Ramirez A, Seshadri S, Metspalu A, Kivimäki M, Salomaa V, Demirkan A, Boomsma DI, van der Flier WM, Amin N, van Duijn CM. van der Lee SJ, et al. Among authors: li s. Alzheimers Dement. 2018 Jun;14(6):707-722. doi: 10.1016/j.jalz.2017.11.012. Epub 2018 Jan 6. Alzheimers Dement. 2018. PMID: 29316447 Free article.
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