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2007 2
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2024 0

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Page 1
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. 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.