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2017 13
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2020 8
2021 3
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2024 1

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Page 1
Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion.
Udine E, DeJesus-Hernandez M, Tian S, das Neves SP, Crook R, Finch NA, Baker MC, Pottier C, Graff-Radford NR, Boeve BF, Petersen RC, Knopman DS, Josephs KA, Oskarsson B, Da Mesquita S, Petrucelli L, Gendron TF, Dickson DW, Rademakers R, van Blitterswijk M. Udine E, et al. Acta Neuropathol. 2024 Apr 19;147(1):73. doi: 10.1007/s00401-024-02720-2. Acta Neuropathol. 2024. PMID: 38641715 Free PMC article.
Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutations.
Pottier C, Mateiu L, Baker MC, DeJesus-Hernandez M, Teixeira Vicente C, Finch NA, Tian S, van Blitterswijk M, Murray ME, Ren Y, Petrucelli L, Oskarsson B, Biernacka JM, Graff-Radford NR, Boeve BF, Petersen RC, Josephs KA, Asmann YW, Dickson DW, Rademakers R. Pottier C, et al. Brain. 2022 Jul 29;145(7):2472-2485. doi: 10.1093/brain/awab437. Brain. 2022. PMID: 34918030 Free PMC article.
Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases.
DeJesus-Hernandez M, Aleff RA, Jackson JL, Finch NA, Baker MC, Gendron TF, Murray ME, McLaughlin IJ, Harting JR, Graff-Radford NR, Oskarsson B, Knopman DS, Josephs KA, Boeve BF, Petersen RC, Fryer JD, Petrucelli L, Dickson DW, Rademakers R, Ebbert MTW, Wieben ED, van Blitterswijk M. DeJesus-Hernandez M, et al. Brain. 2021 May 7;144(4):1082-1088. doi: 10.1093/brain/awab006. Brain. 2021. PMID: 33889947 Free PMC article.
Loss of Tmem106b leads to cerebellum Purkinje cell death and motor deficits.
Rademakers R, Nicholson AM, Ren Y, Koga S, Nguyen HP, Brooks M, Qiao W, Quicksall ZS, Matchett B, Perkerson RB, Kurti A, Castanedes-Casey M, Phillips V, Librero AL, Fernandez De Castro CH, Baker MC, Roemer SF, Murray ME, Asmann Y, Fryer JD, Bu G, Dickson DW, Zhou X. Rademakers R, et al. Brain Pathol. 2021 May;31(3):e12945. doi: 10.1111/bpa.12945. Epub 2021 Mar 11. Brain Pathol. 2021. PMID: 33709463 Free PMC article.
Brain volumetric deficits in MAPT mutation carriers: a multisite study.
Chu SA, Flagan TM, Staffaroni AM, Jiskoot LC, Deng J, Spina S, Zhang L, Sturm VE, Yokoyama JS, Seeley WW, Papma JM, Geschwind DH, Rosen HJ, Boeve BF, Boxer AL, Heuer HW, Forsberg LK, Brushaber DE, Grossman M, Coppola G, Dickerson BC, Bordelon YM, Faber K, Feldman HH, Fields JA, Fong JC, Foroud T, Gavrilova RH, Ghoshal N, Graff-Radford NR, Hsiung GR, Huey ED, Irwin DJ, Kantarci K, Kaufer DI, Karydas AM, Knopman DS, Kornak J, Kramer JH, Kukull WA, Lapid MI, Litvan I, Mackenzie IRA, Mendez MF, Miller BL, Onyike CU, Pantelyat AY, Rademakers R, Marisa Ramos E, Roberson ED, Carmela Tartaglia M, Tatton NA, Toga AW, Vetor A, Weintraub S, Wong B, Wszolek ZK; ARTFL/LEFFTDS Consortium; Van Swieten JC, Lee SE. Chu SA, et al. Ann Clin Transl Neurol. 2021 Jan;8(1):95-110. doi: 10.1002/acn3.51249. Epub 2020 Nov 28. Ann Clin Transl Neurol. 2021. PMID: 33247623 Free PMC article.
Identification of a pathogenic intronic KIF5A mutation in an ALS-FTD kindred.
Saez-Atienzar S, Dalgard CL, Ding J, Chiò A, Alba C, Hupalo DN, Wilkerson MD, Bowser R, Pioro EP, Bedlack R, Traynor BJ. Saez-Atienzar S, et al. Neurology. 2020 Dec 1;95(22):1015-1018. doi: 10.1212/WNL.0000000000011064. Epub 2020 Oct 19. Neurology. 2020. PMID: 33077544 Free PMC article. No abstract available.
Loss of TMEM106B leads to myelination deficits: implications for frontotemporal dementia treatment strategies.
Zhou X, Nicholson AM, Ren Y, Brooks M, Jiang P, Zuberi A, Phuoc HN, Perkerson RB, Matchett B, Parsons TM, Finch NA, Lin W, Qiao W, Castanedes-Casey M, Phillips V, Librero AL, Asmann Y, Bu G, Murray ME, Lutz C, Dickson DW, Rademakers R. Zhou X, et al. Brain. 2020 Jun 1;143(6):1905-1919. doi: 10.1093/brain/awaa141. Brain. 2020. PMID: 32504082 Free PMC article.
65 results