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Year Number of Results
2017 13
2018 23
2019 19
2020 7
2021 2
2022 1
2024 1

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64 results

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Page 1
Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report.
Nelson PT, Dickson DW, Trojanowski JQ, Jack CR, Boyle PA, Arfanakis K, Rademakers R, Alafuzoff I, Attems J, Brayne C, Coyle-Gilchrist ITS, Chui HC, Fardo DW, Flanagan ME, Halliday G, Hokkanen SRK, Hunter S, Jicha GA, Katsumata Y, Kawas CH, Keene CD, Kovacs GG, Kukull WA, Levey AI, Makkinejad N, Montine TJ, Murayama S, Murray ME, Nag S, Rissman RA, Seeley WW, Sperling RA, White CL 3rd, Yu L, Schneider JA. Nelson PT, et al. Brain. 2019 Jun 1;142(6):1503-1527. doi: 10.1093/brain/awz099. Brain. 2019. PMID: 31039256 Free PMC article.
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium; Corcia P, Laaks… See abstract for full author list ➔ Nicolas A, et al. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD.
Chou CC, Zhang Y, Umoh ME, Vaughan SW, Lorenzini I, Liu F, Sayegh M, Donlin-Asp PG, Chen YH, Duong DM, Seyfried NT, Powers MA, Kukar T, Hales CM, Gearing M, Cairns NJ, Boylan KB, Dickson DW, Rademakers R, Zhang YJ, Petrucelli L, Sattler R, Zarnescu DC, Glass JD, Rossoll W. Chou CC, et al. Nat Neurosci. 2018 Feb;21(2):228-239. doi: 10.1038/s41593-017-0047-3. Epub 2018 Jan 8. Nat Neurosci. 2018. PMID: 29311743 Free PMC article.
TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics.
Mackenzie IR, Nicholson AM, Sarkar M, Messing J, Purice MD, Pottier C, Annu K, Baker M, Perkerson RB, Kurti A, Matchett BJ, Mittag T, Temirov J, Hsiung GR, Krieger C, Murray ME, Kato M, Fryer JD, Petrucelli L, Zinman L, Weintraub S, Mesulam M, Keith J, Zivkovic SA, Hirsch-Reinshagen V, Roos RP, Züchner S, Graff-Radford NR, Petersen RC, Caselli RJ, Wszolek ZK, Finger E, Lippa C, Lacomis D, Stewart H, Dickson DW, Kim HJ, Rogaeva E, Bigio E, Boylan KB, Taylor JP, Rademakers R. Mackenzie IR, et al. Neuron. 2017 Aug 16;95(4):808-816.e9. doi: 10.1016/j.neuron.2017.07.025. Neuron. 2017. PMID: 28817800 Free PMC article.
Gyrification abnormalities in presymptomatic c9orf72 expansion carriers.
Caverzasi E, Battistella G, Chu SA, Rosen H, Zanto TP, Karydas A, Shwe W, Coppola G, Geschwind DH, Rademakers R, Miller BL, Gorno-Tempini ML, Lee SE. Caverzasi E, et al. J Neurol Neurosurg Psychiatry. 2019 Sep;90(9):1005-1010. doi: 10.1136/jnnp-2018-320265. Epub 2019 May 11. J Neurol Neurosurg Psychiatry. 2019. PMID: 31079065 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. J Alzheimers Dis. 2018;65(4):1139-1146. doi: 10.3233/JAD-180301. J Alzheimers Dis. 2018. PMID: 30103325
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.
Thalamo-cortical network hyperconnectivity in preclinical progranulin mutation carriers.
Lee SE, Sias AC, Kosik EL, Flagan TM, Deng J, Chu SA, Brown JA, Vidovszky AA, Ramos EM, Gorno-Tempini ML, Karydas AM, Coppola G, Geschwind DH, Rademakers R, Boeve BF, Boxer AL, Rosen HJ, Miller BL, Seeley WW. Lee SE, et al. Neuroimage Clin. 2019;22:101751. doi: 10.1016/j.nicl.2019.101751. Epub 2019 Mar 16. Neuroimage Clin. 2019. PMID: 30921613 Free PMC article.
64 results