ReviewNeurobiology of disease2011
Genetic and clinical features of primary torsion dystonia.
Review in Neurobiology of disease, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
27 citing papers in PubMed, 79 citations in OpenAlex.
- Clinical, Radiological, and Therapeutic Profiles of Patients With DYT-TOR1A: A Single-Center Study in India and Literature Review of the Asian MDSGene Cohort.Journal of movement disorders · 2026Article
- Article
- Research progress in spasmodic torticollis rehabilitation treatment.World journal of clinical cases · 2024Review
- Cerebellar Dysfunction as a Source of Dystonic Phenotypes in Mice.Cerebellum (London, England) · 2023Article
- The HIV protease inhibitor, ritonavir, corrects diverse brain phenotypes across development in mouse model of DYT-TOR1A dystonia.Science translational medicine · 2021Article
- Abnormal cerebellar function and tremor in a mouse model for non-manifesting partially penetrant dystonia type 6.The Journal of physiology · 2021Article
- Integrated Genome and Transcriptome Sequencing to Solve a Neuromuscular Puzzle: Miyoshi Muscular Dystrophy and Early Onset Primary Dystonia in Siblings of the Same Family.Frontiers in genetics · 2021Article
- KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.Brain : a journal of neurology · 2020Article
- Article
- Missense mutations in DYT-TOR1A dystonia.Neurology. Genetics · 2019Article
- Structure of the Golgi apparatus is not influenced by a GAG deletion mutation in the dystonia-associated gene Tor1a.PloS one · 2018Article
- The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage.Developmental cell · 2017Article
- Article
- LINCing defective nuclear-cytoskeletal coupling and DYT1 dystonia.Cellular and molecular bioengineering · 2016Article
- Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.American journal of human genetics · 2015Article
- Negative dystonia of the palate: a novel entity and diagnostic consideration in hypernasal speech.The Laryngoscope · 2015Article
- Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions.Acta neuropathologica communications · 2014Article
- TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration.The Journal of clinical investigation · 2014Article
- Genetic variants in diseases of the extrapyramidal system.Current genomics · 2014Article
- Genetic issues in the diagnosis of dystonias.Frontiers in neurology · 2013Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Primary torsion dystonia (PTD) is defined as a syndrome in which dystonia is the only clinical sign (except for tremor), and there is no evidence of neuronal degeneration or an acquired cause by history or routine laboratory assessment. Seven different loci have been recognized for PTD but only two of the genes have been identified. In this review we will describe the phenotypes associated with these loci and discuss the responsible gene. This article is part of a Special Issue entitled "Advances in dystonia".
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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.