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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, Galimb… See abstract for full author list ➔ Pottier C, et al. Among authors: van blitterswijk m, van swieten jc, van rooij jgj, van deerlin vm. 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.
Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy.
Holstege H, van der Lee SJ, Hulsman M, Wong TH, van Rooij JG, Weiss M, Louwersheimer E, Wolters FJ, Amin N, Uitterlinden AG, Hofman A, Ikram MA, van Swieten JC, Meijers-Heijboer H, van der Flier WM, Reinders MJ, van Duijn CM, Scheltens P. Holstege H, et al. Eur J Hum Genet. 2017 Aug;25(8):973-981. doi: 10.1038/ejhg.2017.87. Epub 2017 May 24. Eur J Hum Genet. 2017. PMID: 28537274 Free PMC article.
Three VCP Mutations in Patients with Frontotemporal Dementia.
Wong TH, Pottier C, Hondius DC, Meeter LHH, van Rooij JGJ, Melhem S; Netherlands Brain bank; van Minkelen R, van Duijn CM, Rozemuller AJM, Seelaar H, Rademakers R, van Swieten JC. Wong TH, et al. Among authors: van minkelen r, van duijn cm, van swieten jc, van rooij jgj. J Alzheimers Dis. 2018;65(4):1139-1146. doi: 10.3233/JAD-180301. J Alzheimers Dis. 2018. PMID: 30103325
EIF2AK3 variants in Dutch patients with Alzheimer's disease.
Wong TH, van der Lee SJ, van Rooij JGJ, Meeter LHH, Frick P, Melhem S, Seelaar H, Ikram MA, Rozemuller AJ, Holstege H, Hulsman M, Uitterlinden A, Neumann M, Hoozemans JJM, van Duijn CM, Rademakers R, van Swieten JC. Wong TH, et al. Among authors: van duijn cm, van swieten jc, van der lee sj, van rooij jgj. Neurobiol Aging. 2019 Jan;73:229.e11-229.e18. doi: 10.1016/j.neurobiolaging.2018.08.016. Epub 2018 Aug 24. Neurobiol Aging. 2019. PMID: 30314817 Free article.
Hippocampal transcriptome profiling combined with protein-protein interaction analysis elucidates Alzheimer's disease pathways and genes.
van Rooij JGJ, Meeter LHH, Melhem S, Nijholt DAT, Wong TH; Netherlands Brain Bank; Rozemuller A, Uitterlinden AG, van Meurs JG, van Swieten JC. van Rooij JGJ, et al. Among authors: van meurs jg, van swieten jc. Neurobiol Aging. 2019 Feb;74:225-233. doi: 10.1016/j.neurobiolaging.2018.10.023. Epub 2018 Oct 29. Neurobiol Aging. 2019. PMID: 30497016 Free article.
Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.
Pottier C, Ren Y, Perkerson RB 3rd, Baker M, Jenkins GD, van Blitterswijk M, DeJesus-Hernandez M, van Rooij JGJ, Murray ME, Christopher E, McDonnell SK, Fogarty Z, Batzler A, Tian S, Vicente CT, Matchett B, Karydas AM, Hsiung GR, Seelaar H, Mol MO, Finger EC, Graff C, Öijerstedt L, Neumann M, Heutink P, Synofzik M, Wilke C, Prudlo J, Rizzu P, Simon-Sanchez J, Edbauer D, Roeber S, Diehl-Schmid J, Evers BM, King A, Mesulam MM, Weintraub S, Geula C, Bieniek KF, Petrucelli L, Ahern GL, Reiman EM, Woodruff BK, Caselli RJ, Huey ED, Farlow MR, Grafman J, Mead S, Grinberg LT, Spina S, Grossman M, Irwin DJ, Lee EB, Suh E, Snowden J, Mann D, Ertekin-Taner N, Uitti RJ, Wszolek ZK, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Hodges JR, Piguet O, Geier EG, Yokoyama JS, Rissman RA, Rogaeva E, Keith J, Zinman L, Tartaglia MC, Cairns NJ, Cruchaga C, Ghetti B, Kofler J, Lopez OL, Beach TG, Arzberger T, Herms J, Honig LS, Vonsattel JP, Halliday GM, Kwok JB, White CL 3rd, Gearing M, Glass J, Rollinson S, Pickering-Brown S, Rohrer JD, Trojanowski JQ, Van Deerlin V, Bigio EH, Troakes C, Al-Sarraj S, Asmann Y, Miller BL, Graff-Radford NR, Boeve BF, Seeley WW, Mackenzie IRA, … See abstract for full author list ➔ Pottier C, et al. Among authors: van blitterswijk m, van swieten jc, van deerlin v, van rooij jgj. Acta Neuropathol. 2019 Jun;137(6):879-899. doi: 10.1007/s00401-019-01962-9. Epub 2019 Feb 9. Acta Neuropathol. 2019. PMID: 30739198 Free PMC article.
Novel CSF biomarkers in genetic frontotemporal dementia identified by proteomics.
van der Ende EL, Meeter LH, Stingl C, van Rooij JGJ, Stoop MP, Nijholt DAT, Sanchez-Valle R, Graff C, Öijerstedt L, Grossman M, McMillan C, Pijnenburg YAL, Laforce R Jr, Binetti G, Benussi L, Ghidoni R, Luider TM, Seelaar H, van Swieten JC. van der Ende EL, et al. Among authors: van swieten jc, van rooij jgj. Ann Clin Transl Neurol. 2019 Mar 7;6(4):698-707. doi: 10.1002/acn3.745. eCollection 2019 Apr. Ann Clin Transl Neurol. 2019. PMID: 31019994 Free PMC article.
Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation.
Mol MO, van Rooij JGJ, Brusse E, Verkerk AJMH, Melhem S, den Dunnen WFA, Rizzu P, Cupidi C, van Swieten JC, Donker Kaat L. Mol MO, et al. Among authors: van swieten jc, van rooij jgj. Neurol Genet. 2020 Mar 23;6(3):e417. doi: 10.1212/NXG.0000000000000417. eCollection 2020 Jun. Neurol Genet. 2020. PMID: 32337344 Free PMC article.
Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patients.
Mol MO, van Rooij JGJ, Wong TH, Melhem S, Verkerk AJMH, Kievit AJA, van Minkelen R, Rademakers R, Pottier C, Kaat LD, Seelaar H, van Swieten JC, Dopper EGP. Mol MO, et al. Among authors: van minkelen r, van swieten jc, van rooij jgj. Neurobiol Aging. 2021 Jan;97:148.e9-148.e16. doi: 10.1016/j.neurobiolaging.2020.07.014. Epub 2020 Jul 30. Neurobiol Aging. 2021. PMID: 32843152 Free article.
45 results