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Page 1
Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options.
Ludolph AC, Kassubek J, Landwehrmeyer BG, Mandelkow E, Mandelkow EM, Burn DJ, Caparros-Lefebvre D, Frey KA, de Yebenes JG, Gasser T, Heutink P, Höglinger G, Jamrozik Z, Jellinger KA, Kazantsev A, Kretzschmar H, Lang AE, Litvan I, Lucas JJ, McGeer PL, Melquist S, Oertel W, Otto M, Paviour D, Reum T, Saint-Raymond A, Steele JC, Tolnay M, Tumani H, van Swieten JC, Vanier MT, Vonsattel JP, Wagner S, Wszolek ZK; Reisensburg Working Group for Tauopathies With Parkinsonism. Ludolph AC, et al. Among authors: melquist s. Eur J Neurol. 2009 Mar;16(3):297-309. doi: 10.1111/j.1468-1331.2008.02513.x. Eur J Neurol. 2009. PMID: 19364361 Free PMC article. Review.
Autosomal dominant dystonia-plus with cerebral calcifications.
Wszolek ZK, Baba Y, Mackenzie IR, Uitti RJ, Strongosky AJ, Broderick DF, Baker MC, Melquist S, Hutton ML, Tsuboi Y, Allanson JE, Carr J, Kumar A, Calne SM, Miklossy J, McGeer PL, Calne DB, Stoessl AJ. Wszolek ZK, et al. Among authors: melquist s. Neurology. 2006 Aug 22;67(4):620-5. doi: 10.1212/01.wnl.0000230141.40784.09. Neurology. 2006. PMID: 16924015 Clinical Trial.
Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.
Wider C, Melquist S, Hauf M, Solida A, Cobb SA, Kachergus JM, Gass J, Coon KD, Baker M, Cannon A, Stephan DA, Schorderet DF, Ghika J, Burkhard PR, Kapatos G, Hutton M, Farrer MJ, Wszolek ZK, Vingerhoets FJ. Wider C, et al. Among authors: melquist s. Neurology. 2008 Apr 15;70(16 Pt 2):1377-83. doi: 10.1212/01.wnl.0000275527.35752.c5. Epub 2007 Sep 5. Neurology. 2008. PMID: 17804835 Free PMC article.
Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms.
Melquist S, Craig DW, Huentelman MJ, Crook R, Pearson JV, Baker M, Zismann VL, Gass J, Adamson J, Szelinger S, Corneveaux J, Cannon A, Coon KD, Lincoln S, Adler C, Tuite P, Calne DB, Bigio EH, Uitti RJ, Wszolek ZK, Golbe LI, Caselli RJ, Graff-Radford N, Litvan I, Farrer MJ, Dickson DW, Hutton M, Stephan DA. Melquist S, et al. Am J Hum Genet. 2007 Apr;80(4):769-78. doi: 10.1086/513320. Epub 2007 Mar 8. Am J Hum Genet. 2007. PMID: 17357082 Free PMC article.
LRRK2 mutations are not common in Alzheimer's disease.
Toft M, Sando SB, Melquist S, Ross OA, White LR, Aasly JO, Farrer MJ. Toft M, et al. Among authors: melquist s. Mech Ageing Dev. 2005 Nov;126(11):1201-5. doi: 10.1016/j.mad.2005.06.010. Mech Ageing Dev. 2005. PMID: 16087219
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.
Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, Snowden J, Adamson J, Sadovnick AD, Rollinson S, Cannon A, Dwosh E, Neary D, Melquist S, Richardson A, Dickson D, Berger Z, Eriksen J, Robinson T, Zehr C, Dickey CA, Crook R, McGowan E, Mann D, Boeve B, Feldman H, Hutton M. Baker M, et al. Among authors: melquist s. Nature. 2006 Aug 24;442(7105):916-9. doi: 10.1038/nature05016. Epub 2006 Jul 16. Nature. 2006. PMID: 16862116
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: melquist s. 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
A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17.
Mackenzie IR, Baker M, West G, Woulfe J, Qadi N, Gass J, Cannon A, Adamson J, Feldman H, Lindholm C, Melquist S, Pettman R, Sadovnick AD, Dwosh E, Whiteheart SW, Hutton M, Pickering-Brown SM. Mackenzie IR, et al. Among authors: melquist s. Brain. 2006 Apr;129(Pt 4):853-67. doi: 10.1093/brain/awh724. Epub 2006 Jan 9. Brain. 2006. PMID: 16401619
Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism association studies.
Pearson JV, Huentelman MJ, Halperin RF, Tembe WD, Melquist S, Homer N, Brun M, Szelinger S, Coon KD, Zismann VL, Webster JA, Beach T, Sando SB, Aasly JO, Heun R, Jessen F, Kolsch H, Tsolaki M, Daniilidou M, Reiman EM, Papassotiropoulos A, Hutton ML, Stephan DA, Craig DW. Pearson JV, et al. Among authors: melquist s. Am J Hum Genet. 2007 Jan;80(1):126-39. doi: 10.1086/510686. Epub 2006 Dec 6. Am J Hum Genet. 2007. PMID: 17160900 Free PMC article.
31 results