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Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease.
Le Guen Y, Belloy ME, Grenier-Boley B, de Rojas I, Castillo-Morales A, Jansen I, Nicolas A, Bellenguez C, Dalmasso C, Küçükali F, Eger SJ, Rasmussen KL, Thomassen JQ, Deleuze JF, He Z, Napolioni V, Amouyel P, Jessen F, Kehoe PG, van Duijn C, Tsolaki M, Sánchez-Juan P, Sleegers K, Ingelsson M, Rossi G, Hiltunen M, Sims R, van der Flier WM, Ramirez A, Andreassen OA, Frikke-Schmidt R, Williams J, Ruiz A, Lambert JC, Greicius MD; Members of the EADB, GR@ACE, DEGESCO, DemGene, GERAD, and EADI Groups; Arosio B, Benussi L, Boland A, Borroni B, Caffarra P, Daian D, Daniele A, Debette S, Dufouil C, Düzel E, Galimberti D, Giedraitis V, Grimmer T, Graff C, Grünblatt E, Hanon O, Hausner L, Heilmann-Heimbach S, Holstege H, Hort J, Jürgen D, Kuulasmaa T, van der Lugt A, Masullo C, Mecocci P, Mehrabian S, de Mendonça A, Moebus S, Nacmias B, Nicolas G, Olaso R, Papenberg G, Parnetti L, Pasquier F, Peters O, Pijnenburg YAL, Popp J, Rainero I, Ramakers I, Riedel-Heller S, Scarmeas N, Scheltens P, Scherbaum N, Schneider A, Seripa D, Soininen H, Solfrizzi V, Spalletta G, Squassina A, van Swieten J, Tegos TJ, Tremolizzo L, Verhey F, Vyhnalek M, Wiltfang J, Boada M, García-González P, Puerta R, … See abstract for full author list ➔ Le Guen Y, et al. Among authors: eger sj. JAMA Neurol. 2022 Jul 1;79(7):652-663. doi: 10.1001/jamaneurol.2022.1166. JAMA Neurol. 2022. PMID: 35639372 Free PMC article.
Common X-Chromosome Variants Are Associated with Parkinson Disease Risk.
Le Guen Y, Napolioni V, Belloy ME, Yu E, Krohn L, Ruskey JA, Gan-Or Z, Kennedy G, Eger SJ, Greicius MD. Le Guen Y, et al. Among authors: eger sj. Ann Neurol. 2021 Jul;90(1):22-34. doi: 10.1002/ana.26051. Epub 2021 Mar 6. Ann Neurol. 2021. PMID: 33583074 Free PMC article.
KL∗VS heterozygosity reduces brain amyloid in asymptomatic at-risk APOE∗4 carriers.
Belloy ME, Eger SJ, Le Guen Y, Napolioni V, Deters KD, Yang HS, Scelsi MA, Porter T, James SN, Wong A, Schott JM, Sperling RA, Laws SM, Mormino EC, He Z, Han SS, Altmann A, Greicius MD; A4 Study Team; Insight 46 Study Team; Australian Imaging Biomarkers and Lifestyle (AIBL) Study; Alzheimer's Disease Neuroimaging Initiative. Belloy ME, et al. Among authors: eger sj. Neurobiol Aging. 2021 May;101:123-129. doi: 10.1016/j.neurobiolaging.2021.01.008. Epub 2021 Jan 23. Neurobiol Aging. 2021. PMID: 33610961 Free PMC article.
Challenges at the APOE locus: a robust quality control approach for accurate APOE genotyping.
Belloy ME, Eger SJ, Le Guen Y, Damotte V, Ahmad S, Ikram MA, Ramirez A, Tsolaki AC, Rossi G, Jansen IE, de Rojas I, Parveen K, Sleegers K, Ingelsson M, Hiltunen M, Amin N, Andreassen O, Sánchez-Juan P, Kehoe P, Amouyel P, Sims R, Frikke-Schmidt R, van der Flier WM, Lambert JC; European Alzheimer & Dementia BioBank (EADB); He Z, Han SS, Napolioni V, Greicius MD. Belloy ME, et al. Among authors: eger sj. Alzheimers Res Ther. 2022 Feb 4;14(1):22. doi: 10.1186/s13195-022-00962-4. Alzheimers Res Ther. 2022. PMID: 35120553 Free PMC article.
Association of African Ancestry-Specific APOE Missense Variant R145C With Risk of Alzheimer Disease.
Le Guen Y, Raulin AC, Logue MW, Sherva R, Belloy ME, Eger SJ, Chen A, Kennedy G, Kuchenbecker L, O'Leary JP, Zhang R, Merritt VC, Panizzon MS, Hauger RL, Gaziano JM, Bu G, Thornton TA, Farrer LA, Napolioni V, He Z, Greicius MD. Le Guen Y, et al. Among authors: eger sj. JAMA. 2023 Feb 21;329(7):551-560. doi: 10.1001/jama.2023.0268. JAMA. 2023. PMID: 36809323 Free PMC article.
Single-nucleus RNA sequencing demonstrates an autosomal dominant Alzheimer's disease profile and possible mechanisms of disease protection.
Almeida MC, Eger SJ, He C, Audouard M, Nikitina A, Glasauer SMK, Han D, Mejía-Cupajita B, Acosta-Uribe J, Villalba-Moreno ND, Littau JL, Elcheikhali M, Rivera EK, Carrettiero DC, Villegas-Lanau CA, Sepulveda-Falla D, Lopera F, Kosik KS. Almeida MC, et al. Among authors: eger sj. Neuron. 2024 Feb 21:S0896-6273(24)00093-X. doi: 10.1016/j.neuron.2024.02.009. Online ahead of print. Neuron. 2024. PMID: 38417436