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Page 1
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
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
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. Among authors: melquist s. 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
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
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.
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
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.
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.
Risk-reducing effect of education in Alzheimer's disease.
Sando SB, Melquist S, Cannon A, Hutton M, Sletvold O, Saltvedt I, White LR, Lydersen S, Aasly J. Sando SB, et al. Among authors: melquist s. Int J Geriatr Psychiatry. 2008 Nov;23(11):1156-62. doi: 10.1002/gps.2043. Int J Geriatr Psychiatry. 2008. PMID: 18484674
30 results