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Background
Currently, no study has evaluated metal accumulation in the brains of patients with Wilson's disease by using quantitative susceptibility mapping at 3T MRI. The objectives of this study were to qualitatively and quantitatively evaluate changes in magnetic susceptibility and R2* maps in deep gray matter nuclei to discriminate Wilson's disease patients from healthy controls and to evaluate...
Background: Sequence variants in coding and noncoding regions of THAP1 have been associated with primary dystonia.
Methods: In this study, 1,446 Caucasian subjects with mainly adult‐onset primary dystonia and 1,520 controls were genotyped for a variant located in the 5′‐untranslated region of THAP1 (c.‐237_236GA>TT).
Results: Minor allele frequencies were 62/2892 (2.14%) and 55/3040 (1.81%) in...
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