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Page 1
Cortical and subcortical pathological burden and neuronal loss in an autopsy series of FTLD-TDP-type C.
Kawles A, Nishihira Y, Feldman A, Gill N, Minogue G, Keszycki R, Coventry C, Spencer C, Lilek J, Ajroud K, Coppola G, Rademakers R, Rogalski E, Weintraub S, Zhang H, Flanagan ME, Bigio EH, Mesulam MM, Geula C, Mao Q, Gefen T. Kawles A, et al. Among authors: bigio eh. Brain. 2022 Apr 29;145(3):1069-1078. doi: 10.1093/brain/awab368. Brain. 2022. PMID: 34919645 Free PMC article.
The L266V tau mutation is associated with frontotemporal dementia and Pick-like 3R and 4R tauopathy.
Hogg M, Grujic ZM, Baker M, Demirci S, Guillozet AL, Sweet AP, Herzog LL, Weintraub S, Mesulam MM, LaPointe NE, Gamblin TC, Berry RW, Binder LI, de Silva R, Lees A, Espinoza M, Davies P, Grover A, Sahara N, Ishizawa T, Dickson D, Yen SH, Hutton M, Bigio EH. Hogg M, et al. Among authors: bigio eh. Acta Neuropathol. 2003 Oct;106(4):323-36. doi: 10.1007/s00401-003-0734-x. Epub 2003 Jul 19. Acta Neuropathol. 2003. PMID: 12883828
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.
Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, Adamson J, Crook R, Melquist S, Kuntz K, Petersen R, Josephs K, Pickering-Brown SM, Graff-Radford N, Uitti R, Dickson D, Wszolek Z, Gonzalez J, Beach TG, Bigio E, Johnson N, Weintraub S, Mesulam M, White CL 3rd, Woodruff B, Caselli R, Hsiung GY, Feldman H, Knopman D, Hutton M, Rademakers R. Gass J, et al. Hum Mol Genet. 2006 Oct 15;15(20):2988-3001. doi: 10.1093/hmg/ddl241. Epub 2006 Sep 1. Hum Mol Genet. 2006. PMID: 16950801
Clinicopathologic correlation in PGRN mutations.
Davion S, Johnson N, Weintraub S, Mesulam MM, Engberg A, Mishra M, Baker M, Adamson J, Hutton M, Rademakers R, Bigio EH. Davion S, et al. Among authors: bigio eh. Neurology. 2007 Sep 11;69(11):1113-21. doi: 10.1212/01.wnl.0000267701.58488.69. Epub 2007 May 23. Neurology. 2007. PMID: 17522386 Free PMC article.
Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.
Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, Spina S, Coppola G, Karydas AM, Stewart H, Johnson N, Hsiung GY, Kelley B, Kuntz K, Steinbart E, Wood EM, Yu CE, Josephs K, Sorenson E, Womack KB, Weintraub S, Pickering-Brown SM, Schofield PR, Brooks WS, Van Deerlin VM, Snowden J, Clark CM, Kertesz A, Boylan K, Ghetti B, Neary D, Schellenberg GD, Beach TG, Mesulam M, Mann D, Grafman J, Mackenzie IR, Feldman H, Bird T, Petersen R, Knopman D, Boeve B, Geschwind DH, Miller B, Wszolek Z, Lippa C, Bigio EH, Dickson D, Graff-Radford N, Hutton M. Rademakers R, et al. Among authors: bigio eh. Lancet Neurol. 2007 Oct;6(10):857-68. doi: 10.1016/S1474-4422(07)70221-1. Lancet Neurol. 2007. PMID: 17826340
TDP-43 A315T mutation in familial motor neuron disease.
Gitcho MA, Baloh RH, Chakraverty S, Mayo K, Norton JB, Levitch D, Hatanpaa KJ, White CL 3rd, Bigio EH, Caselli R, Baker M, Al-Lozi MT, Morris JC, Pestronk A, Rademakers R, Goate AM, Cairns NJ. Gitcho MA, et al. Among authors: bigio eh. Ann Neurol. 2008 Apr;63(4):535-8. doi: 10.1002/ana.21344. Epub 2008 Feb 20. Ann Neurol. 2008. PMID: 18288693 Free PMC article.
TAR DNA-binding protein 43 immunohistochemistry reveals extensive neuritic pathology in FTLD-U: a midwest-southwest consortium for FTLD study.
Hatanpaa KJ, Bigio EH, Cairns NJ, Womack KB, Weintraub S, Morris JC, Foong C, Xiao G, Hladik C, Mantanona TY, White CL 3rd. Hatanpaa KJ, et al. Among authors: bigio eh. J Neuropathol Exp Neurol. 2008 Apr;67(4):271-9. doi: 10.1097/NEN.0b013e31816a12a6. J Neuropathol Exp Neurol. 2008. PMID: 18379440 Free PMC article.
264 results