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C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.
Ervilha Pereira P, Schuermans N, Meylemans A, LeBlanc P, Versluys L, Copley KE, Rubien JD, Altheimer C, Peetermans M, Debackere E, Vanakker O, Janssens S, Baets J, Verhoeven K, Lammens M, Symoens S, De Paepe B, Barmada SJ, Shorter J, De Bleecker JL, Bogaert E, Dermaut B. Ervilha Pereira P, et al. Among authors: barmada sj. Acta Neuropathol. 2023 Jun;145(6):793-814. doi: 10.1007/s00401-023-02565-1. Epub 2023 Mar 31. Acta Neuropathol. 2023. PMID: 37000196 Free PMC article.
Reliability and Validity of Smartphone Cognitive Testing for Frontotemporal Lobar Degeneration.
Staffaroni AM, Clark AL, Taylor JC, Heuer HW, Sanderson-Cimino M, Wise AB, Dhanam S, Cobigo Y, Wolf A, Manoochehri M, Forsberg L, Mester C, Rankin KP, Appleby BS, Bayram E, Bozoki A, Clark D, Darby RR, Domoto-Reilly K, Fields JA, Galasko D, Geschwind D, Ghoshal N, Graff-Radford N, Grossman M, Hsiung GY, Huey ED, Jones DT, Lapid MI, Litvan I, Masdeu JC, Massimo L, Mendez MF, Miyagawa T, Pascual B, Pressman P, Ramanan VK, Ramos EM, Rascovsky K, Roberson ED, Tartaglia MC, Wong B, Miller BL, Kornak J, Kremers W, Hassenstab J, Kramer JH, Boeve BF, Rosen HJ, Boxer AL; ALLFTD Consortium. Staffaroni AM, et al. JAMA Netw Open. 2024 Apr 1;7(4):e244266. doi: 10.1001/jamanetworkopen.2024.4266. JAMA Netw Open. 2024. PMID: 38558141 Free PMC article.
Glia in FTLD-GRN: from supporting cast to leading role.
Pinarbasi ES, Barmada SJ. Pinarbasi ES, et al. Among authors: barmada sj. J Clin Invest. 2023 Mar 15;133(6):e168215. doi: 10.1172/JCI168215. J Clin Invest. 2023. PMID: 36919702 Free PMC article.
Symptomatic progression of frontotemporal dementia with the TARDBP I383V variant.
Pressman PS, Carter DJ, Ramos EM, Molden J, Smith K, Dino F, McMillan C, Irwin D, Rascovsky K, Ghoshal N, Knudtson M, Rademakers R, Geschwind D, Gendron T, Petrucelli L, Heuer H, Boeve BF, Barmada S, Boxer A, Tempini MLG, Rosen HJ. Pressman PS, et al. Neurocase. 2024 May 17:1-9. doi: 10.1080/13554794.2024.2354540. Online ahead of print. Neurocase. 2024. PMID: 38757415
Association of Physical Activity With Neurofilament Light Chain Trajectories in Autosomal Dominant Frontotemporal Lobar Degeneration Variant Carriers.
Casaletto KB, Kornack J, Paolillo EW, Rojas JC, VandeBunte A, Staffaroni AS, Lee S, Heuer H, Forsberg L, Ramos EM, Miller BL, Kramer JH, Yaffe K, Petrucelli L, Boxer A, Boeve B, Gendron TF, Rosen H; ALLFTD Consortium. Casaletto KB, et al. JAMA Neurol. 2023 Jan 1;80(1):82-90. doi: 10.1001/jamaneurol.2022.4178. JAMA Neurol. 2023. PMID: 36374516 Free PMC article.
Counter-regulation of RNA stability by UPF1 and TDP43.
Gomez N, Hsieh C, Li X, Dykstra M, Waksmacki J, Altheim C, Bechar Y, Klim J, Zaepfel B, Rothstein J, Tank EE, Barmada SJ. Gomez N, et al. Among authors: barmada sj. bioRxiv [Preprint]. 2024 Feb 15:2024.01.31.578310. doi: 10.1101/2024.01.31.578310. bioRxiv. 2024. PMID: 38352350 Free PMC article. Preprint.
73 results