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A mutation in the PRKAR1B gene drives pathological mechanisms of neurodegeneration across species.
Benjamin-Zukerman T, Shimon G, Gaine ME, Dakwar A, Peled N, Aboraya M, Masri-Ismail A, Safadi-Safa R, Solomon M, Lev-Ram V, Rissman RA, Mayrhofer JE, Raffeiner A, Mol MO, Argue BMR, McCool S, Doan B, van Swieten J, Stefan E, Abel T, Ilouz R. Benjamin-Zukerman T, et al. Among authors: mol mo. Brain. 2024 Nov 4;147(11):3890-3905. doi: 10.1093/brain/awae154. Brain. 2024. PMID: 38743596 Free PMC article.
Cognitive profiles discriminate between genetic variants of behavioral frontotemporal dementia.
Poos JM, Jiskoot LC, Leijdesdorff SMJ, Seelaar H, Panman JL, van der Ende EL, Mol MO, Meeter LHH, Pijnenburg YAL, Donker Kaat L, de Jong FJ, van Swieten JC, Papma JM, van den Berg E. Poos JM, et al. Among authors: mol mo. J Neurol. 2020 Jun;267(6):1603-1612. doi: 10.1007/s00415-020-09738-y. Epub 2020 Feb 12. J Neurol. 2020. PMID: 32052166 Free PMC article.
Somatic TARDBP variants as a cause of semantic dementia.
van Rooij J, Mol MO, Melhem S, van der Wal P, Arp P, Paron F, Donker Kaat L, Seelaar H; Netherlands Brain Bank; Miedema SSM, Oshima T, Eggen BJL, Uitterlinden A, van Meurs J, van Kesteren RE, Smit AB, Buratti E, van Swieten JC. van Rooij J, et al. Among authors: mol mo. Brain. 2020 Dec 1;143(12):3827-3841. doi: 10.1093/brain/awaa317. Brain. 2020. PMID: 33155043 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. 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.
Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia.
Mol MO, Wong TH, Melhem S, Basu S, Viscusi R, Galjart N, Rozemuller AJM, Fallini C, Landers JE, Kaat LD, Seelaar H, van Rooij JGJ, van Swieten JC. Mol MO, et al. Neurol Genet. 2021 May 18;7(3):e596. doi: 10.1212/NXG.0000000000000596. eCollection 2021 Jun. Neurol Genet. 2021. PMID: 34169147 Free PMC 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, van Swieten JC, D… See abstract for full author list ➔ Pottier C, et al. Among authors: mol mo. 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.
29 results