ReviewJournal of neural transmission (Vienna, Austria : 1996)2021
The importance of genetic testing for dystonia patients and translational research.
Review in Journal of neural transmission (Vienna, Austria : 1996), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 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
6 citing papers in PubMed.
- Clinical and Genetic Spectrum of ANO3-Related Dystonia with Treatment Responses in a Chinese Cohort.Genes · 2026Article
- Clinical and genetic spectrum of L-dopa responsive dystonia: insights from seven Egyptian cases.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.Brain : a journal of neurology · 2025Article
- Review
- Applicability of clinical genetic testing for deep brain stimulation treatment in monogenic Parkinson's disease and monogenic dystonia: a multidisciplinary team perspective.Frontiers in neuroscience · 2023Article
- Untwisting dystonia: stepping-up genetics, shifting pathophysiology, and strategizing care.Journal of neural transmission (Vienna, Austria : 1996) · 2021Article
Corrections and comments
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Authors and funding
3 authors.
Funding
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Abstract
Genetic testing through a variety of methods is a fundamental but underutilized approach for establishing the precise genetic diagnosis in patients with heritable forms of dystonia. Our knowledge of numerous dystonia-related genes, variants that they may contain, associated clinical presentations, and molecular disease mechanism may have significant translational potential for patients with genetically confirmed dystonia or their family members. Importantly, genetic testing permits the assembly of patient cohorts pertinent for dystonia-related research and developing therapeutics. Here we review the genetic testing approaches relevant to dystonia patients, and summarize and illustrate the multifold benefits of establishing an accurate molecular diagnosis for patients imminently or for translational research in the long run.
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Registered trials
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