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2015 1
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2019 4
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49 results

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Page 1
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 rooij jgj. 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.
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM, de Waal MWJ, Monti G, Tesi N, Jensen AMG, de Geus C, van Spaendonk R, Vogel M, Ahmad S, Amin N, Amouyel P, Beecham GW, Bellenguez C, Berr C, Bis JC, Boland A, Bossù P, Bouwman F, Bras J, Charbonnier C, Clarimon J, Cruchaga C, Daniele A, Dartigues JF, Debette S, Deleuze JF, Denning N, DeStefano AL, Dols-Icardo O, van Duijn CM, Farrer LA, Fernández MV, van der Flier WM, Fox NC, Galimberti D, Genin E, Gille JJP, Grenier-Boley B, Grozeva D, Guen YL, Guerreiro R, Haines JL, Holmes C, Hummerich H, Arfan Ikram M, Kamran Ikram M, Kawalia A, Kraaij R, Lambert JC, Lathrop M, Lemstra AW, Lleó A, Myers RM, Mannens MMAM, Marshall R, Martin ER, Masullo C, Mayeux R, Mead S, Mecocci P, Meggy A, Mol MO, Nacmias B, Naj AC, Napolioni V, Nicholas Cochran J, Nicolas G, Pasquier F, Pastor P, Pericak-Vance MA, Pijnenburg YAL, Piras F, Quenez O, Ramirez A, Raybould R, Redon R, Reinders MJT, Richard AC, Riedel-Heller SG, Rivadeneira F, van Rooij JGJ, Rousseau S, Ryan NS, Sanchez-Juan P, Schellenberg GD, Scheltens P, Schott JM, Seshadri S, Sie D, Sims R, Sistermans EA, Sorbi S, van Swieten JC, Tijms B, Uitterlinden AG, Visser PJ, Wagner M, Wallon D, Wang LS, Williams J, Yokoyama JS, Zar… See abstract for full author list ➔ Andersen OM, et al. Among authors: van rooij jgj. Mol Neurodegener. 2025 Dec 1;20(1):122. doi: 10.1186/s13024-025-00907-z. Mol Neurodegener. 2025. PMID: 41327266 Free PMC article.
Methylome analysis of FTLD patients with TDP-43 pathology identifies epigenetic signatures specific to pathological subtypes.
Vicente CT, Niranjan T, Coopman E, Faura J, Alidadiani S, Schrauwen C, Matchett BJ, Heeman B, Van den Broeck M, De Coster W, Nguyen T, Lau JS, Baheti S, de Pooter T, De Rijk P, Strazisar M, Baker M, DeJesus-Hernandez M, Finch NA, Pottier C, van Blitterswijk M, Asmann Y, Murray ME, Petrucelli L, King A, Troakes C, Al-Sarraj S, Rissman RA, Hiniker A, Flanagan M, Evers BM, White CL 3rd, Cruchaga C, Castellani R, van Rooij JGJ, Mol MO, Seelaar H, van Swieten JC, Oskarsson B, Reichard RR, Nguyen AT, Josephs KA, Petersen RC, Ertekin-Taner N, Boeve BF, Graff-Radford NR, Weckhuysen S, Dickson DW, Rademakers R. Vicente CT, et al. Among authors: van rooij jgj. Mol Neurodegener. 2025 Jul 6;20(1):80. doi: 10.1186/s13024-025-00869-2. Mol Neurodegener. 2025. PMID: 40619440 Free PMC article.
Brain transcriptomics highlight abundant gene expression and splicing alterations in non-neuronal cells in aFTLD-U.
Alidadiani S, Faura J, Wynants S, Peeters N, Van den Broeck M, De Witte L, Policarpo R, Cheung S, Pottier C, Ghayal NB, Mol MO, van Blitterswijk M, Udine E, DeJesus-Hernandez M, Baker M, Finch NA, Asmann YW, van Rooij JGJ, Nguyen AT, Ross Reichard R, Nana AL, Lopez OL, Boxer AL, Rosen HJ, Spina S, Herms J, Josephs KA, Petersen RC, Rissman RA, Hiniker A, Ang LC, Grinberg LT, Halliday GM, Boeve BF, Graff-Radford NR, Seelaar H, Neumann M, Kofler J, White CL 3rd, Seeley WW, van Swieten JC, Dickson DW, Mackenzie IRA, De Coster W, Rademakers R. Alidadiani S, et al. Among authors: van rooij jgj. Acta Neuropathol. 2025 Aug 10;150(1):17. doi: 10.1007/s00401-025-02919-x. Acta Neuropathol. 2025. PMID: 40783910 Free PMC article.
UNC13A Polymorphism Influences Survival in Patients with Frontotemporal Dementia.
Reus LM, Willemse SW, de Boer SCM, De Houwer J, Hartog WL, Mol MO, van Rooij JGJ, Tesi N, Donker Kaat L, Hulsman M, Vijverberg EGB, Holstege H, van Rheenen W, Veldink JH, van den Berg LH, van Swieten JC, Seelaar H, van der Lee SJ, van Es MA, Pijnenburg YAL. Reus LM, et al. Among authors: van rooij jgj. Ann Neurol. 2025 Jun;97(6):1062-1066. doi: 10.1002/ana.27245. Epub 2025 Apr 11. Ann Neurol. 2025. PMID: 40214138 Free PMC article.
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.
Pottier C, Zhou X, Perkerson RB 3rd, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, López de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, Sánchez-Valle R, Antonell A, Lladó A, Parsons TM, Finch NA, Finger EC, Lippa CF, Huey ED, Neumann M, Heutink P, Synofzik M, Wilke C, Rissman RA, Slawek J, Sitek E, Johannsen P, Nielsen JE, Ren Y, van Blitterswijk M, DeJesus-Hernandez M, Christopher E, Murray ME, Bieniek KF, Evers BM, Ferrari C, Rollinson S, Richardson A, Scarpini E, Fumagalli GG, Padovani A, Hardy J, Momeni P, Ferrari R, Frangipane F, Maletta R, Anfossi M, Gallo M, Petrucelli L, Suh E, Lopez OL, Wong TH, van Rooij JGJ, Seelaar H, Mead S, Caselli RJ, Reiman EM, Noel Sabbagh M, Kjolby M, Nykjaer A, Karydas AM, Boxer AL, Grinberg LT, Grafman J, Spina S, Oblak A, Mesulam MM, Weintraub S, Geula C, Hodges JR, Piguet O, Brooks WS, Irwin DJ, Trojanowski JQ, Lee EB, Josephs KA, Parisi JE, Ertekin-Taner N, Knopman DS, Nacmias B, Piaceri I, Bagnoli S, Sorbi S, Gearing M, Glass J, Beach TG, Black SE, Masellis M, Rogaeva E, Vonsattel JP, Honig LS, Kofler J, Bruni AC, Snowden J, Mann D, Pickering-Brown S, Diehl-Schmid J, Winkelmann J, Galimberti D,… See abstract for full author list ➔ Pottier C, et al. Among authors: van rooij jgj. Lancet Neurol. 2018 Jun;17(6):548-558. doi: 10.1016/S1474-4422(18)30126-1. Epub 2018 Apr 30. Lancet Neurol. 2018. PMID: 29724592 Free PMC article.
A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions.
De Coster W, Van den Broeck M, Baker M, Ghayal NB, Wynants S, Batzler A, Pottier C, Alidadiani S, Küçükali F, Jenkins GD, Policarpo R, van Blitterswijk M, DeJesus-Hernandez M, Soto-Beasley AI, Faura J, Coopman E, Hutten S, Mol MO, Wallon D, Sieben A, Finger EC, Murray ME, Forrest SL, Tartaglia MC, Troakes C, van Rooij JGJ, Nguyen AT, Reichard RR, Woodman NL, Nana AL, Weintraub S, Gefen T, De Vil B, Bodi I, Lopez OL, Boluda S, Belliard S, Lebert F, Marguet F, Mao Q, Mesulam MM, Boxer AL, Vandenbulcke M, Suh E, Schaeverbeke J, Lambert JC, Scholz SW, Dalgard CL, Traynor BJ, Gibbs RJ, Schellenberg GD, Dormann D, Joris G, De Pooter T, De Rijk P, D'Hert S, Van Dongen J, van der Zee J, Strazisar M, Gearing M, Kukar T, Flanagan M, Engelborghs S, Ghetti B, Newell KL, King A, Roeber S, Rosen HJ, Spina S, Cras P, Ertekin-Taner N, Wszolek ZK, Uitti RJ, Cheshire WP, Singer W, Herms J, Josephs KA, Whitwell JL, Petersen RC, Pasquier F, Nicolas G, Castellani R, Glass J, Miller BL, Kovacs GG, Rissman RA, Hiniker A, Deramecourt V, Ang LC, Lee-Way J, Van Deerlin VM, Dugger BN, Thal DR, Grinberg LT, Cruchaga C, Arzberger T, Munoz DG, Keith J, Zinman L, Rogaeva E, Lee EB, Haggarty SJ, Ansorge O… See abstract for full author list ➔ De Coster W, et al. Among authors: van rooij jgj. Nat Genet. 2026 Mar 12. doi: 10.1038/s41588-026-02537-7. Online ahead of print. Nat Genet. 2026. PMID: 41820575
External Test of a Deep Learning Algorithm for Pulmonary Nodule Malignancy Risk Stratification Using European Screening Data.
Antonissen N, Venkadesh KV, Dinnessen R, Scholten ET, Saghir Z, Silva M, Pastorino U, Sidorenkov G, Heuvelmans MA, de Bock GH, Mohamed Hoesein FAA, de Jong PA, Groen HJM, Vliegenthart R, Gietema HA, Prokop M, Schaefer-Prokop C, Jacobs C; NELSON-POP consortium. Antonissen N, et al. Radiology. 2025 Sep;316(3):e250874. doi: 10.1148/radiol.250874. Radiology. 2025. PMID: 40956165
Risk Assessment for Hip and Knee Osteoarthritis Using Polygenic Risk Scores.
Sedaghati-Khayat B, Boer CG, Runhaar J, Bierma-Zeinstra SMA, Broer L, Ikram MA, Zeggini E, Uitterlinden AG, van Rooij JGJ, van Meurs JBJ. Sedaghati-Khayat B, et al. Among authors: van rooij jgj. Arthritis Rheumatol. 2022 Sep;74(9):1488-1496. doi: 10.1002/art.42246. Epub 2022 Aug 2. Arthritis Rheumatol. 2022. PMID: 35644035 Free PMC article.
49 results