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Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
Holstege H, Hulsman M, Charbonnier C, Grenier-Boley B, Quenez O, Grozeva D, van Rooij JGJ, Sims R, Ahmad S, Amin N, Norsworthy PJ, Dols-Icardo O, Hummerich H, Kawalia A, Amouyel P, Beecham GW, Berr C, Bis JC, Boland A, Bossù P, Bouwman F, Bras J, Campion D, Cochran JN, Daniele A, Dartigues JF, Debette S, Deleuze JF, Denning N, DeStefano AL, Farrer LA, Fernández MV, Fox NC, Galimberti D, Genin E, Gille JJP, Le Guen Y, Guerreiro R, Haines JL, Holmes C, Ikram MA, Ikram MK, Jansen IE, Kraaij R, Lathrop M, Lemstra AW, Lleó A, Luckcuck L, Mannens MMAM, Marshall R, Martin ER, Masullo C, Mayeux R, Mecocci P, Meggy A, Mol MO, Morgan K, Myers RM, Nacmias B, Naj AC, Napolioni V, Pasquier F, Pastor P, Pericak-Vance MA, Raybould R, Redon R, Reinders MJT, Richard AC, Riedel-Heller SG, Rivadeneira F, Rousseau S, Ryan NS, Saad S, Sanchez-Juan P, Schellenberg GD, Scheltens P, Schott JM, Seripa D, Seshadri S, Sie D, Sistermans EA, Sorbi S, van Spaendonk R, Spalletta G, Tesi N, Tijms B, Uitterlinden AG, van der Lee SJ, Visser PJ, Wagner M, Wallon D, Wang LS, Zarea A, Clarimon J, van Swieten JC, Greicius MD, Yokoyama JS, Cruchaga C, Hardy J, Ramirez A, Mead S, van der Flier WM, van Duijn CM, W… See abstract for full author list ➔ Holstege H, et al. Among authors: van spaendonk r. Nat Genet. 2022 Dec;54(12):1786-1794. doi: 10.1038/s41588-022-01208-7. Epub 2022 Nov 21. Nat Genet. 2022. PMID: 36411364 Free PMC article.
Distinctive pattern of temporal atrophy in patients with frontotemporal dementia and the I383V variant in TARDBP.
Mol MO, Nijmeijer SWR, van Rooij JGJ, van Spaendonk RML, Pijnenburg YAL, van der Lee SJ, van Minkelen R, Donker Kaat L, Rozemuller AJM, Janse van Mantgem MR, van Rheenen W, van Es MA, Veldink JH, Hennekam FAM, Vernooij M, van Swieten JC, Cohn-Hokke PE, Seelaar H, Dopper EGP. Mol MO, et al. Among authors: van spaendonk rml. J Neurol Neurosurg Psychiatry. 2021 Jul;92(7):787-789. doi: 10.1136/jnnp-2020-325150. Epub 2021 Jan 15. J Neurol Neurosurg Psychiatry. 2021. PMID: 33452055 Free PMC article. No abstract available.
Hypomyelination and congenital cataract: broadening the clinical phenotype.
Biancheri R, Zara F, Rossi A, Mathot M, Nassogne MC, Yalcinkaya C, Erturk O, Tuysuz B, Di Rocco M, Gazzerro E, Bugiani M, van Spaendonk R, Sistermans EA, Minetti C, van der Knaap MS, Wolf NI. Biancheri R, et al. Among authors: van spaendonk r, van der knaap ms. Arch Neurol. 2011 Sep;68(9):1191-4. doi: 10.1001/archneurol.2011.201. Arch Neurol. 2011. PMID: 21911699 Review.
The first case of fatal familial insomnia (FFI) in the Netherlands: a patient from Egyptian descent with concurrent four repeat tau deposits.
Jansen C, Parchi P, Jelles B, Gouw AA, Beunders G, van Spaendonk RM, van de Kamp JM, Lemstra AW, Capellari S, Rozemuller AJ. Jansen C, et al. Among authors: van spaendonk rm, van de kamp jm. Neuropathol Appl Neurobiol. 2011 Aug;37(5):549-53. doi: 10.1111/j.1365-2990.2010.01126.x. Neuropathol Appl Neurobiol. 2011. PMID: 20874730 No abstract available.
Proteomic landscapes of inherited platelet disorders with different etiologies.
Kreft IC, Huisman EJ, Cnossen MH, van Alphen FPJ, van der Zwaan C, van Leeuwen K, van Spaendonk R, Porcelijn L, Veen CSB, van den Biggelaar M, de Haas M, Meijer AB, Hoogendijk AJ. Kreft IC, et al. Among authors: van spaendonk r. J Thromb Haemost. 2023 Feb;21(2):359-372.e3. doi: 10.1016/j.jtha.2022.11.021. Epub 2022 Dec 22. J Thromb Haemost. 2023. PMID: 36700500 Free article.
41 results