Results 1 -
10
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47
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Dystonia 12
- ... variant develop movement abnormalities while others do not. Dystonia 12 DYT12 RDP RODP Genetic Testing Registry: Dystonia 12 Rapid-onset dystonia-parkinsonism National Organization for Rare ...
- ... exome sequencing identifies PRKRA mutations in a European dystonia family. Mov Disord. 2014 Oct;29(12):1504-10. doi: 10.1002/mds.25981. Epub 2014 Aug 20. Citation on PubMed
- ... Embouchure dystonia--Portrait of a task-specific cranial dystonia. Mov Disord. 2009 Sep 15;24(12):1752-62. doi: 10.1002/mds.22550. Citation ...
- ... U. Phenotypic and molecular analyses of X-linked dystonia-parkinsonism ("lubag") in women. Arch Neurol. 2004 Dec;61(12):1956-9. doi: 10.1001/archneur.61.12. ...
- ... SB. Genetic and clinical features of primary torsion dystonia. Neurobiol Dis. 2011 May;42(2):127-35. doi: 10.1016/j.nbd.2010.12.012. Epub 2010 Dec 17. Citation on PubMed
- ... DJ, Owen MJ, Morris HR. SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype. J Neurol. 2014 Dec;261(12):2296-304. doi: 10.1007/s00415-014-7488- ...
- ... for a new phenotypic variant. Neurogenetics. 2011 Aug;12(3):183-91. doi: 10.1007/s10048-011-0279-4. Epub 2011 Mar 24. Citation on PubMed Asmus F, Gasser T. Dystonia-plus syndromes. Eur J Neurol. 2010 Jul;17 ...
- ... hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive ... adults. Clin Biochem. 2005 Dec;38(12):1051-8. doi: 10.1016/j.clinbiochem.2005. ...
- ... for a new phenotypic variant. Neurogenetics. 2011 Aug;12(3):183-91. doi: ... dystonia and sepiapterin reductase deficiency. Mol Genet Metab. 2001 ...
- ... the eyelids. This condition is a type of dystonia, which is a group of movement disorders that ... people with benign essential blepharospasm, the symptoms of dystonia spread beyond the eyes to affect other facial ...