ReviewNeurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics2014
Inherited isolated dystonia: clinical genetics and gene function.
Review in Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 28 citations in OpenAlex.
- The Brain-Age Gap in Pediatric Dystonia: Neuroanatomical Deviations Inform Deep Brain Stimulation Outcomes.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Dysregulated nuclear Lamin B1 in DYT1 dystonia thickens nuclear lamina and disrupts 14-3-3 proteins.Cell death discovery · 2026Article
- Clinical and molecular characterization of 18p deletion syndrome and a novel case with reproductive disorder.Molecular cytogenetics · 2026Article
- Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia Syndromes.Annals of neurology · 2025Article
- RANBP17 Overexpression Restores Nucleocytoplasmic Transport and Ameliorates Neurodevelopment in Induced DYT1 Dystonia Motor Neurons.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2024Article
- DYT-Frontiers in neuroscience · 2023Review
- Disease Modeling with Human Neurons Reveals LMNB1 Dysregulation Underlying DYT1 Dystonia.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2021Article
- TorsinA dysfunction causes persistent neuronal nuclear pore defects.Human molecular genetics · 2018Article
- The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage.Developmental cell · 2017Article
- Diminishing evidence for torsinA-positive neuronal inclusions in DYT1 dystonia.Acta neuropathologica communications · 2016Article
- Recent advances in understanding nuclear size and shape.Nucleus (Austin, Tex.) · 2016Review
- Article
- A novel function for the Caenorhabditis elegans torsin OOC-5 in nucleoporin localization and nuclear import.Molecular biology of the cell · 2015Article
- The nuclear envelope: an intriguing focal point for neurogenetic disease.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2014Review
- Neurogenetic disease: genes, mechanisms, and future promise.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2014Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Isolated inherited dystonia-formerly referred to as primary dystonia-is characterized by abnormal motor functioning of a grossly normal appearing brain. The disease manifests as abnormal involuntary twisting movements. The absence of overt neuropathological lesions, while intriguing, has made it particularly difficult to unravel the pathogenesis of isolated inherited dystonia. The explosion of genetic techology enabling the identification of the causative gene mutations is transforming our understanding of dystonia pathogenesis, as the molecular, cellular and circuit level consequences of these mutations are identified in experimental systems. Here, I review the clinical genetics and cell biology of three forms of inherited dystonia for which the causative mutation is known: DYT1 (TOR1A), DYT6 (THAP1), DYT25 (GNAL).
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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.