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Journal of Neurology|July 30, 2011
THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expressionFu Bo Cheng, Laurie J Ozelius, Xin Hua Wan, et al.
Human Molecular Genetics|March 16, 2006
Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifierNorman Kock, Teresa V Naismith, Heather E Boston, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 1, 2025
Structural Alterations in the Gray Matter Volume in Rapid-Onset Dystonia-ParkinsonismIhtsham U Haq, Kristina Simonyan, Eleonora Napoli, et al.
Journal of the Neurological Sciences|August 5, 2008
[123I]-FP-CIT and [99mTc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia-parkinsonismPaolo Zanotti-Fregonara, Marie Vidailhet, Aurélie Kas, et al.
Plos One|March 19, 2016
ATP1A3 Mutation in Adult Rapid-Onset AtaxiaKathleen J Sweadner, Camilo Toro, Christopher T Whitlow, et al.
Neuroscience Letters|April 25, 2006
Increased frequency of the LRRK2 G2019S mutation in an elderly Ashkenazi Jewish population is not associated with dementiaRachel Saunders-Pullman, Richard B Lipton, Geetha Senthil, et al.
Elife|December 26, 2015
A dystonia-like movement disorder with brain and spinal neuronal defects is caused by mutation of the mouse laminin β1 subunit, Lamb1Yi Bessie Liu, Ambika Tewari, Johnny Salameh, et al.
Neurobiology of Aging|April 2, 2016
Cholesteryl ester transfer protein genotype modifies the effect of apolipoprotein ε4 on memory decline in older adultsErin Elizabeth Sundermann, Cuiling Wang, Mindy Katz, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 11, 2017
Phenotype- and genotype-specific structural alterations in spasmodic dysphoniaSerena Bianchi, Giovanni Battistella, Hailey Huddleston, et al.
Acta Neuropathologica Communications|September 19, 2014
Dystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractionsMaitane Ortiz-Virumbrales, Marta Ruiz, Eugene Hone, et al.
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