ReviewCurrent neurology and neuroscience reports2013
Understanding the anatomy of dystonia: determinants of penetrance and phenotype.
Review in Current neurology and neuroscience reports, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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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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Who cites it
12 citing papers in PubMed, 17 citations in OpenAlex.
- Brain network pathophysiology in dystonia.Dystonia (Lausanne, Switzerland) · 2025Article
- Disordered network structure and function in dystonia: pathological connectivity vs. adaptive responses.Cerebral cortex (New York, N.Y. : 1991) · 2023Article
- Quantification of Behavioral Deficits in Developing Mice With Dystonic Behaviors.Dystonia (Lausanne, Switzerland) · 2022Article
- The critical balance between dopamine D2 receptor and RGS for the sensitive detection of a transient decay in dopamine signal.PLoS computational biology · 2021Article
- Abnormal cerebellar function and tremor in a mouse model for non-manifesting partially penetrant dystonia type 6.The Journal of physiology · 2021Article
- The abnormal firing of Purkinje cells in the knockin mouse model of DYT1 dystonia.Brain research bulletin · 2020Article
- Exploratory structural assessment in craniocervical dystonia: Global and differential analyses.PloS one · 2017Article
- Cerebellar Intermittent Theta-Burst Stimulation and Motor Control Training in Individuals with Cervical Dystonia.Brain sciences · 2016Article
- The visual perception of natural motion: abnormal task-related neural activity in DYT1 dystonia.Brain : a journal of neurology · 2015Article
- Reduced Number of Pigmented Neurons in the Substantia Nigra of Dystonia Patients? Findings from Extensive Neuropathologic, Immunohistochemistry, and Quantitative Analyses.Tremor and other hyperkinetic movements (New York, N.Y.) · 2015Article
- The role of dopamine and dopaminergic pathways in dystonia: insights from neuroimaging.Tremor and other hyperkinetic movements (New York, N.Y.) · 2015Review
- Normal motor adaptation in cervical dystonia: a fundamental cerebellar computation is intact.Cerebellum (London, England) · 2014Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
The dystonias comprise a group of syndromes characterized by prolonged involuntary muscle contractions resulting in repetitive movements and abnormal postures. Primary dystonia has been associated with over 14 different genotypes, most of which follow an autosomal dominant inheritance pattern with reduced penetrance. Independent of etiology, the disease is characterized by extensive variability in disease phenotype and clinical severity. Recent neuroimaging studies investigating this phenomenon in manifesting and non-manifesting genetic carriers of dystonia have discovered microstructural integrity differences in the cerebello-thalamo-cortical tract in both groups related to disease penetrance. Further study suggests these differences to be specific to subrolandic white matter regions somatotopically related to clinical phenotype. Clinical severity was correlated to the degree of microstructural change. These findings suggest a mechanism for the penetrance and clinical variability observed in dystonia and may represent a novel therapeutic target for patients with refractory limb symptoms.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.