ArticleTremor and other hyperkinetic movements (New York, N.Y.)2025
Article in Tremor and other hyperkinetic movements (New York, N.Y.), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Abstract
Background: Monoallelic variants in Objective: Description of the clinical, imaging, and genetic profile of Methods: Report of a single patient with Results: There were a total of 3 cases from India, 10 cases from China, and 34 cases from Europe. The median age at onset was similar in all cohorts. The median duration of disease was 26 years in the European cohort but a shorter duration was noted in the Indian and Chinese cohorts (13-14 years). Dystonia was the common symptom observed in all cohorts with associated myoclonus, intellectual disability, and psychiatric symptoms commonly reported from European cohort. The onset of dystonia was primarily noticed in the limb/cervical region in all cohorts. Partial to good response to globus pallidus interna deep brain stimulation (DBS) was reported from the European cohort. Brain magnetic resonance imaging was usually normal in all the cohorts. Frameshift and stop-gain variants were common in the European and Indian cohorts, whereas missense variants were common in the Chinese group. Segmental dystonia was common in frameshift variants (70%) and generalized dystonia in stop-gain variants. Conclusion: Our study showed geographically diverse differences in the phenotypic presentation of Highlights:
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