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523 results

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Page 1
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. Among authors: rademakers r. 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
Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study.
Boeve BF, Baker M, Dickson DW, Parisi JE, Giannini C, Josephs KA, Hutton M, Pickering-Brown SM, Rademakers R, Tang-Wai D, Jack CR Jr, Kantarci K, Shiung MM, Golde T, Smith GE, Geda YE, Knopman DS, Petersen RC. Boeve BF, et al. Among authors: rademakers r. Brain. 2006 Nov;129(Pt 11):3103-14. doi: 10.1093/brain/awl268. Epub 2006 Oct 9. Brain. 2006. PMID: 17030535
Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations.
Josephs KA, Ahmed Z, Katsuse O, Parisi JF, Boeve BF, Knopman DS, Petersen RC, Davies P, Duara R, Graff-Radford NR, Uitti RJ, Rademakers R, Adamson J, Baker M, Hutton ML, Dickson DW. Josephs KA, et al. Among authors: rademakers r. J Neuropathol Exp Neurol. 2007 Feb;66(2):142-51. doi: 10.1097/nen.0b013e31803020cf. J Neuropathol Exp Neurol. 2007. PMID: 17278999
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. Lancet Neurol. 2007 Oct;6(10):857-68. doi: 10.1016/S1474-4422(07)70221-1. Lancet Neurol. 2007. PMID: 17826340
Prominent phenotypic variability associated with mutations in Progranulin.
Kelley BJ, Haidar W, Boeve BF, Baker M, Graff-Radford NR, Krefft T, Frank AR, Jack CR Jr, Shiung M, Knopman DS, Josephs KA, Parashos SA, Rademakers R, Hutton M, Pickering-Brown S, Adamson J, Kuntz KM, Dickson DW, Parisi JE, Smith GE, Ivnik RJ, Petersen RC. Kelley BJ, et al. Among authors: rademakers r. Neurobiol Aging. 2009 May;30(5):739-51. doi: 10.1016/j.neurobiolaging.2007.08.022. Epub 2007 Oct 18. Neurobiol Aging. 2009. PMID: 17949857 Free PMC article.
Abnormal TDP-43 immunoreactivity in AD modifies clinicopathologic and radiologic phenotype.
Josephs KA, Whitwell JL, Knopman DS, Hu WT, Stroh DA, Baker M, Rademakers R, Boeve BF, Parisi JE, Smith GE, Ivnik RJ, Petersen RC, Jack CR Jr, Dickson DW. Josephs KA, et al. Among authors: rademakers r. Neurology. 2008 May 6;70(19 Pt 2):1850-7. doi: 10.1212/01.wnl.0000304041.09418.b1. Epub 2008 Apr 9. Neurology. 2008. PMID: 18401022 Free PMC article.
Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia.
Rademakers R, Eriksen JL, Baker M, Robinson T, Ahmed Z, Lincoln SJ, Finch N, Rutherford NJ, Crook RJ, Josephs KA, Boeve BF, Knopman DS, Petersen RC, Parisi JE, Caselli RJ, Wszolek ZK, Uitti RJ, Feldman H, Hutton ML, Mackenzie IR, Graff-Radford NR, Dickson DW. Rademakers R, et al. Hum Mol Genet. 2008 Dec 1;17(23):3631-42. doi: 10.1093/hmg/ddn257. Epub 2008 Aug 21. Hum Mol Genet. 2008. PMID: 18723524 Free PMC article.
523 results