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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 F… See abstract for full author list ➔ Holstege H, et al. Among authors: van duijn cm, van swieten jc, van der lee sj, van der flier wm, van spaendonk r, 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.
A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers.
Zhang M, Ferrari R, Tartaglia MC, Keith J, Surace EI, Wolf U, Sato C, Grinberg M, Liang Y, Xi Z, Dupont K, McGoldrick P, Weichert A, McKeever PM, Schneider R, McCorkindale MD, Manzoni C, Rademakers R, Graff-Radford NR, Dickson DW, Parisi JE, Boeve BF, Petersen RC, Miller BL, Seeley WW, van Swieten JC, van Rooij J, Pijnenburg Y, van der Zee J, Van Broeckhoven C, Le Ber I, Van Deerlin V, Suh E, Rohrer JD, Mead S, Graff C, Öijerstedt L, Pickering-Brown S, Rollinson S, Rossi G, Tagliavini F, Brooks WS, Dobson-Stone C, Halliday GM, Hodges JR, Piguet O, Binetti G, Benussi L, Ghidoni R, Nacmias B, Sorbi S, Bruni AC, Galimberti D, Scarpini E, Rainero I, Rubino E, Clarimon J, Lleó A, Ruiz A, Hernández I, Pastor P, Diez-Fairen M, Borroni B, Pasquier F, Deramecourt V, Lebouvier T, Perneczky R, Diehl-Schmid J, Grafman J, Huey ED, Mayeux R, Nalls MA, Hernandez D, Singleton A, Momeni P, Zeng Z, Hardy J, Robertson J, Zinman L, Rogaeva E; International FTD-Genomics Consortium (IFGC). Zhang M, et al. Among authors: van swieten jc, van deerlin v, van rooij j, van der zee j, van broeckhoven c. Brain. 2018 Oct 1;141(10):2895-2907. doi: 10.1093/brain/awy238. Brain. 2018. PMID: 30252044 Free PMC article.
Effects of the DICE Method to Improve Timely Recognition and Treatment of Neuropsychiatric Symptoms in Early Alzheimer's Disease at the Memory Clinic: The BEAT-IT Study.
Eikelboom WS, van den Berg E, Coesmans M, Goudzwaard JA, Koopmanschap M, Lazaar N, van Bruchem-Visser RL, Driesen JJM, den Heijer T, Hoogers S, de Jong FJ, Mattace-Raso F, Thomeer EC, Vrenken S, Vroegindeweij LJHM, Zuidema SU, Singleton EH, van Swieten JC, Ossenkoppele R, Papma JM. Eikelboom WS, et al. Among authors: van swieten jc, van den berg e, van bruchem visser rl. J Alzheimers Dis. 2023;93(4):1407-1423. doi: 10.3233/JAD-230116. J Alzheimers Dis. 2023. PMID: 37182887 Free PMC article.
Longitudinal cerebral perfusion in presymptomatic genetic frontotemporal dementia: GENFI results.
Pasternak M, Mirza SS, Luciw N, Mutsaerts HJMM, Petr J, Thomas D, Cash D, Bocchetta M, Tartaglia MC, Mitchell SB, Black SE, Freedman M, Tang-Wai D, Rogaeva E, Russell LL, Bouzigues A, van Swieten JC, Jiskoot LC, Seelaar H, Laforce R Jr, Tiraboschi P, Borroni B, Galimberti D, Rowe JB, Graff C, Finger E, Sorbi S, de Mendonça A, Butler C, Gerhard A, Sanchez-Valle R, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, Levin J, Otto M, Santana I, Strafella AP, MacIntosh BJ, Rohrer JD, Masellis M; GENetic Frontotemporal dementia Initiative (GENFI). Pasternak M, et al. Among authors: van swieten jc. Alzheimers Dement. 2024 Apr 16. doi: 10.1002/alz.13750. Online ahead of print. Alzheimers Dement. 2024. PMID: 38623902 Italian.
Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia.
Samra K, Peakman G, MacDougall AM, Bouzigues A, Greaves CV, Convery RS, van Swieten JC, Jiskoot L, Seelaar H, Moreno F, Sanchez-Valle R, Laforce R, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Ber IL, Tiraboschi P, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Rohrer JD, Russell LL;  Genetic FTD Initiative (GENFI). Samra K, et al. Among authors: van swieten jc. Alzheimers Dement (Amst). 2024 Apr 14;16(2):e12571. doi: 10.1002/dad2.12571. eCollection 2024 Apr-Jun. Alzheimers Dement (Amst). 2024. PMID: 38623386 Free PMC article.
A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.
Swift IJ, Rademakers R, Finch N, Baker M, Ghidoni R, Benussi L, Binetti G, Rossi G, Synofzik M, Wilke C, Mengel D, Graff C, Takada LT, Sánchez-Valle R, Antonell A, Galimberti D, Fenoglio C, Serpente M, Arcaro M, Schreiber S, Vielhaber S, Arndt P, Santana I, Almeida MR, Moreno F, Barandiaran M, Gabilondo A, Stubert J, Gómez-Tortosa E, Agüero P, Sainz MJ, Gohda T, Murakoshi M, Kamei N, Kittel-Schneider S, Reif A, Weigl J, Jian J, Liu C, Serrero G, Greither T, Theil G, Lohmann E, Gazzina S, Bagnoli S, Coppola G, Bruni A, Quante M, Kiess W, Hiemisch A, Jurkutat A, Block MS, Carlson AM, Bråthen G, Sando SB, Grøntvedt GR, Lauridsen C, Heslegrave A, Heller C, Abel E, Gómez-Núñez A, Puey R, Arighi A, Rotondo E, Jiskoot LC, Meeter LHH, Durães J, Lima M, Tábuas-Pereira M, Lemos J, Boeve B, Petersen RC, Dickson DW, Graff-Radford NR, LeBer I, Sellami L, Lamari F, Clot F, Borroni B, Cantoni V, Rivolta J, Lleó A, Fortea J, Alcolea D, Illán-Gala I, Andres-Cerezo L, Van Damme P, Clarimon J, Steinacker P, Feneberg E, Otto M, van der Ende EL, van Swieten JC, Seelaar H, Zetterberg H, Sogorb-Esteve A, Rohrer JD. Swift IJ, et al. Among authors: van swieten jc. Alzheimers Res Ther. 2024 Mar 28;16(1):66. doi: 10.1186/s13195-024-01420-z. Alzheimers Res Ther. 2024. PMID: 38539243 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 swieten jc. Brain. 2024 Mar 25:awae090. doi: 10.1093/brain/awae090. Online ahead of print. Brain. 2024. PMID: 38527854
Distinctive cell-free DNA methylation characterizes presymptomatic genetic frontotemporal dementia.
Giannini LAA, Boers RG, van der Ende EL, Poos JM, Jiskoot LC, Boers JB, van IJcken WFJ, Dopper EG, Pijnenburg YAL, Seelaar H, Meeter LH, van Rooij JGJ, Scheper W, Gribnau J, van Swieten JC. Giannini LAA, et al. Among authors: van swieten jc. Ann Clin Transl Neurol. 2024 Mar;11(3):744-756. doi: 10.1002/acn3.51997. Epub 2024 Mar 13. Ann Clin Transl Neurol. 2024. PMID: 38481040 Free PMC article.
Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and MAPT Sub-haplotypes.
Wang H, Chang TS, Dombroski BA, Cheng PL, Si YQ, Tucci A, Patil V, Valiente-Banuet L, Farrell K, Mclean C, Molina-Porcel L, Alex R, Paul De Deyn P, Le Bastard N, Gearing M, Donker Kaat L, Van Swieten JC, Dopper E, Ghetti BF, Newell KL, Troakes C, G de Yébenes J, Rábano-Gutierrez A, Meller T, Oertel WH, Respondek G, Stamelou M, Arzberger T, Roeber S, Müller U, Hopfner F, Pastor P, Brice A, Durr A, Ber IL, Beach TG, Serrano GE, Hazrati LN, Litvan I, Rademakers R, Ross OA, Galasko D, Boxer AL, Miller BL, Seeley WW, Van Deerlin VM, Lee EB, White CL 3rd, Morris HR, de Silva R, Crary JF, Goate AM, Friedman JS, Leung YY, Coppola G, Naj AC, Wang LS; PSP genetics study group; Dickson DW, Höglinger GU, Tzeng JY, Geschwind DH, Schellenberg GD, Lee WP. Wang H, et al. Among authors: van swieten jc. medRxiv [Preprint]. 2024 Feb 28:2024.02.26.24303379. doi: 10.1101/2024.02.26.24303379. medRxiv. 2024. PMID: 38464214 Free PMC article. Preprint.
376 results