Subject Areas on Research
- A novel presentation of DYT 16: acute onset in infancy and association with MRI abnormalities.
- ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.
- Acute dystonic reaction with moderate-dose ziprasidone.
- Evaluation and treatment of dystonia.
- Extraocular muscle dystonia due to acquired (non-Wilsonian) hepatocerebral degeneration.
- Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia.
- Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia.
- Intractable Blepharospasm Treated with Bilateral Pallidal Deep Brain Stimulation.
- Limited regional cerebellar dysfunction induces focal dystonia in mice.
- Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models.
- New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism.
- Oculogyric crises secondary to lamotrigine overdosage.
- Psychiatric disorders in rapid-onset dystonia-parkinsonism.
- Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings.
- Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
- Update on blepharospasm: report from the BEBRF International Workshop.
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