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Dystonia 12
- ... exome sequencing identifies PRKRA mutations in a European dystonia family. Mov Disord. 2014 Oct;29(12):1504-10. doi: 10.1002/mds.25981. Epub ...
- ... ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. Neurology. 2014 Mar 25;82(12):1065-7. doi: 10.1212/WNL.0000000000000254. Epub ...
- ... TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion. Neurobiol Dis. 2003 Feb;12(1):11-24. doi: 10.1016/s0969-9961( ...
- ... 1007/s10875-007-9123-x. Epub 2007 Sep 12. Citation on PubMed Tranebjaerg L. Deafness-Dystonia-Optic Neuronopathy Syndrome. 2003 Feb 6 [updated 2019 ...
- ... 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- ...
- ... hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive ... adults. Clin Biochem. 2005 Dec;38(12):1051-8. doi: 10.1016/j.clinbiochem.2005. ...
- ... 9):764-73. doi: 10.1016/S1474-4422(12)70182-5. Epub 2012 Jul 30. Citation on PubMed ... case of rapid-onset dystonia-parkinsonism. J Neurol Sci. 2008 Oct 15;273( ...
- ... gene have been found to cause dopa-responsive dystonia. This condition is characterized by a pattern of involuntary muscle contractions (dystonia), tremors, and other uncontrolled movements and usually responds ...
- ... mutations have been found to cause hypermanganesemia with dystonia 2, a condition that begins in early childhood ... and brain (hypermanganesemia), involuntary tensing of the muscles (dystonia), and other movement problems. These mutations impair the ...
- ... and a group of movement problems called focal dystonia that primarily affects the hands. The most common ... developing brain, leading to the intellectual disability and dystonia characteristic of Partington syndrome. More About This Health ...