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Page 1
Cerebellar ataxia in progressive supranuclear palsy: An autopsy study of PSP-C.
Koga S, Josephs KA, Ogaki K, Labbé C, Uitti RJ, Graff-Radford N, van Gerpen JA, Cheshire WP, Aoki N, Rademakers R, Wszolek ZK, Ross OA, Dickson DW. Koga S, et al. Among authors: rademakers r. Mov Disord. 2016 May;31(5):653-62. doi: 10.1002/mds.26499. Epub 2016 Feb 3. Mov Disord. 2016. PMID: 26841329 Free PMC article.
High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy.
Rademakers R, Melquist S, Cruts M, Theuns J, Del-Favero J, Poorkaj P, Baker M, Sleegers K, Crook R, De Pooter T, Bel Kacem S, Adamson J, Van den Bossche D, Van den Broeck M, Gass J, Corsmit E, De Rijk P, Thomas N, Engelborghs S, Heckman M, Litvan I, Crook J, De Deyn PP, Dickson D, Schellenberg GD, Van Broeckhoven C, Hutton ML. Rademakers R, et al. Hum Mol Genet. 2005 Nov 1;14(21):3281-92. doi: 10.1093/hmg/ddi361. Epub 2005 Sep 29. Hum Mol Genet. 2005. PMID: 16195395
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
Progressive supranuclear palsy: pathology and genetics.
Dickson DW, Rademakers R, Hutton ML. Dickson DW, et al. Among authors: rademakers r. Brain Pathol. 2007 Jan;17(1):74-82. doi: 10.1111/j.1750-3639.2007.00054.x. Brain Pathol. 2007. PMID: 17493041 Free PMC article. Review.
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.
Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease.
Haugarvoll K, Rademakers R, Kachergus JM, Nuytemans K, Ross OA, Gibson JM, Tan EK, Gaig C, Tolosa E, Goldwurm S, Guidi M, Riboldazzi G, Brown L, Walter U, Benecke R, Berg D, Gasser T, Theuns J, Pals P, Cras P, De Deyn PP, Engelborghs S, Pickut B, Uitti RJ, Foroud T, Nichols WC, Hagenah J, Klein C, Samii A, Zabetian CP, Bonifati V, Van Broeckhoven C, Farrer MJ, Wszolek ZK. Haugarvoll K, et al. Among authors: rademakers r. Neurology. 2008 Apr 15;70(16 Pt 2):1456-60. doi: 10.1212/01.wnl.0000304044.22253.03. Epub 2008 Mar 12. Neurology. 2008. PMID: 18337586 Free PMC article.
520 results