ReviewAdvances in genetics2012
The genetics of dystonias.
Review in Advances in genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 35 citations in OpenAlex.
- Mouse Gnal transcripts and transcriptomics in isolated dystonia.Research square · 2025Article
- Cerebellar dysfunction in rodent models with dystonia, tremor, and ataxia.Dystonia (Lausanne, Switzerland) · 2023Article
- Zika virus-induced TNF-α signaling dysregulates expression of neurologic genes associated with psychiatric disorders.Journal of neuroinflammation · 2022Article
- Risk Factor Genes in Patients with Dystonia: A Comprehensive Review.Tremor and other hyperkinetic movements (New York, N.Y.) · 2018Review
- Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing.Journal of neural transmission (Vienna, Austria : 1996) · 2017Review
- Update on the Genetics of Dystonia.Current neurology and neuroscience reports · 2017Review
- Article
- Motor phenotypes and molecular networks associated with germline deficiency of Ciz1.Experimental neurology · 2016Article
- Clinical and genetic features of cervical dystonia in a large multicenter cohort.Neurology. Genetics · 2016Article
- Blepharospasm in a multiplex African-American pedigree.Journal of the neurological sciences · 2016Article
- Diagnosis and treatment of dystonia.Neurologic clinics · 2015Review
- The New Classification System for the Dystonias: Why Was it Needed and How was it Developed?Movement disorders clinical practice · 2014Article
- Recent advances in the genetics of dystonia.Current neurology and neuroscience reports · 2014Review
- A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia.Molecular genetics & genomic medicine · 2014Article
- Dystonia as a network disorder: what is the role of the cerebellum?Neuroscience · 2014Review
- Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation.Journal of neurology · 2014Article
- Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report.BMC medical genetics · 2013Article
- Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.Human molecular genetics · 2013Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Dystonia has been defined as a syndrome of involuntary, sustained muscle contractions affecting one or more sites of the body, frequently causing twisting and repetitive movements or abnormal postures. Dystonia is also a clinical sign that can be the presenting or prominent manifestation of many neurodegenerative and neurometabolic disorders. Etiological categories include primary dystonia, secondary dystonia, heredodegenerative diseases with dystonia, and dystonia plus. Primary dystonia includes syndromes in which dystonia is the sole phenotypic manifestation with the exception that tremor can be present as well. Most primary dystonia begins in adults, and approximately 10% of probands report one or more affected family members. Many cases of childhood- and adolescent-onset dystonia are due to mutations in TOR1A and THAP1. Mutations in THAP1 and CIZ1 have been associated with sporadic and familial adult-onset dystonia. Although significant recent progress had been made in defining the genetic basis for most of the dystonia-plus and heredodegenerative diseases with dystonia, a major gap remains in understanding the genetic etiologies for most cases of adult-onset primary dystonia. Common themes in the cellular biology of dystonia include G1/S cell cycle control, monoaminergic neurotransmission, mitochondrial dysfunction, and the neuronal stress response.
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What OpenQuestion holds
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.