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Page 1
[No title available]
[No authors listed] [No authors listed] PMID: 39751615
[No title available]
[No authors listed] [No authors listed] PMID: 39750306
The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer's disease.
Jensen AMG, Raska J, Fojtik P, Monti G, Lunding M, Bartova S, Pospisilova V, van der Lee SJ, Van Dongen J, Bossaerts L, Van Broeckhoven C, Dols-Icardo O, Lléo A, Bellini S, Ghidoni R, Hulsman M, Petsko GA, Sleegers K, Bohaciakova D, Holstege H, Andersen OM. Jensen AMG, et al. Among authors: van der lee sj. Proc Natl Acad Sci U S A. 2024 Sep 10;121(37):e2408262121. doi: 10.1073/pnas.2408262121. Epub 2024 Sep 3. Proc Natl Acad Sci U S A. 2024. PMID: 39226352
Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease.
Peloso GM, van der Lee SJ; International Genomics of Alzheimer's Project (IGAP); Destefano AL, Seshardi S. Peloso GM, et al. Among authors: van der lee sj. Alzheimers Dement (Amst). 2018 Sep 22;10:595-598. doi: 10.1016/j.dadm.2018.08.008. eCollection 2018. Alzheimers Dement (Amst). 2018. PMID: 30422133 Free PMC article.
Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease.
Western D, Timsina J, Wang L, Wang C, Yang C, Phillips B, Wang Y, Liu M, Ali M, Beric A, Gorijala P, Kohlfeld P, Budde J, Levey AI, Morris JC, Perrin RJ, Ruiz A, Marquié M, Boada M, de Rojas I, Rutledge J, Oh H, Wilson EN, Le Guen Y, Reus LM, Tijms B, Visser PJ, van der Lee SJ, Pijnenburg YAL, Teunissen CE, Del Campo Milan M, Alvarez I, Aguilar M; Dominantly Inherited Alzheimer Network (DIAN); Alzheimer’s Disease Neuroimaging Initiative (ADNI); Greicius MD, Pastor P, Pulford DJ, Ibanez L, Wyss-Coray T, Sung YJ, Cruchaga C. Western D, et al. Among authors: van der lee sj. Nat Genet. 2024 Dec;56(12):2672-2684. doi: 10.1038/s41588-024-01972-8. Epub 2024 Nov 11. Nat Genet. 2024. PMID: 39528825
Alzheimer's disease clinical variants show distinct neuroinflammatory profiles with neuropathology.
Boon BDC, Frigerio I, de Gooijer D, Morrema THJ, Bol J, Galis-de Graaf Y, Heymans M; Netherlands Brain Bank; Murray ME; Normal Aging Brain Collection Amsterdam; van der Lee SJ, Holstege H, van de Berg WDJ, Jonkman LE, Rozemuller AJM, Bouwman FH, Hoozemans JJM. Boon BDC, et al. Among authors: van der lee sj. Neuropathol Appl Neurobiol. 2024 Oct;50(5):e13009. doi: 10.1111/nan.13009. Neuropathol Appl Neurobiol. 2024. PMID: 39400356
Genome wide association study of clinical duration and age at onset of sporadic CJD.
Hummerich H, Speedy H, Campbell T, Darwent L, Hill E, Collins S, Stehmann C, Kovacs GG, Geschwind MD, Frontzek K, Budka H, Gelpi E, Aguzzi A, van der Lee SJ, van Duijn CM, Liberski PP, Calero M, Sanchez-Juan P, Bouaziz-Amar E, Laplanche JL, Haïk S, Brandel JP, Mammana A, Capellari S, Poleggi A, Ladogana A, Pocchiari M, Zafar S, Booth S, Jansen GH, Areškevičiūtė A, Løbner Lund E, Glisic K, Parchi P, Hermann P, Zerr I, Appleby BS, Safar J, Gambetti P, Collinge J, Mead S. Hummerich H, et al. Among authors: van der lee sj. PLoS One. 2024 Jul 26;19(7):e0304528. doi: 10.1371/journal.pone.0304528. eCollection 2024. PLoS One. 2024. PMID: 39079175 Free PMC article.
Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia.
Manzoni C, Kia DA, Ferrari R, Leonenko G, Costa B, Saba V, Jabbari E, Tan MM, Albani D, Alvarez V, Alvarez I, Andreassen OA, Angiolillo A, Arighi A, Baker M, Benussi L, Bessi V, Binetti G, Blackburn DJ, Boada M, Boeve BF, Borrego-Ecija S, Borroni B, Bråthen G, Brooks WS, Bruni AC, Caroppo P, Bandres-Ciga S, Clarimon J, Colao R, Cruchaga C, Danek A, de Boer SC, de Rojas I, di Costanzo A, Dickson DW, Diehl-Schmid J, Dobson-Stone C, Dols-Icardo O, Donizetti A, Dopper E, Durante E, Ferrari C, Forloni G, Frangipane F, Fratiglioni L, Kramberger MG, Galimberti D, Gallucci M, García-González P, Ghidoni R, Giaccone G, Graff C, Graff-Radford NR, Grafman J, Halliday GM, Hernandez DG, Hjermind LE, Hodges JR, Holloway G, Huey ED, Illán-Gala I, Josephs KA, Knopman DS, Kristiansen M, Kwok JB, Leber I, Leonard HL, Libri I, Lleo A, Mackenzie IR, Madhan GK, Maletta R, Marquié M, Maver A, Menendez-Gonzalez M, Milan G, Miller BL, Morris CM, Morris HR, Nacmias B, Newton J, Nielsen JE, Nilsson C, Novelli V, Padovani A, Pal S, Pasquier F, Pastor P, Perneczky R, Peterlin B, Petersen RC, Piguet O, Pijnenburg YA, Puca AA, Rademakers R, Rainero I, Reus LM, Richardson AM, Riemenschneider M, Rogaeva E, Rogelj… See abstract for full author list ➔ Manzoni C, et al. Among authors: van der lee sj. Am J Hum Genet. 2024 Jul 11;111(7):1316-1329. doi: 10.1016/j.ajhg.2024.05.017. Epub 2024 Jun 17. Am J Hum Genet. 2024. PMID: 38889728 Free PMC article.
Connecting dementia risk loci to the CSF proteome identifies pathophysiological leads for dementia.
Reus LM, Jansen IE, Tijms BM, Visser PJ, Tesi N, van der Lee SJ, Vermunt L, Peeters CFW, De Groot LA, Hok-A-Hin YS, Chen-Plotkin A, Irwin DJ, Hu WT, Meeter LH, van Swieten JC, Holstege H, Hulsman M, Lemstra AW, Pijnenburg YAL, van der Flier WM, Teunissen CE, Del Campo Milan M. Reus LM, et al. Among authors: van der lee sj. Brain. 2024 Oct 3;147(10):3522-3533. doi: 10.1093/brain/awae090. Brain. 2024. PMID: 38527854 Free PMC article.
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