ArticleBrain communications2022
Adult-onset KMT2B-related dystonia.
Article in Brain communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 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.
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Who cites it
10 citing papers in PubMed, 12 citations in OpenAlex.
- Clinical, imaging and genetic profile of KMT2B-related dystonia: a review of published cases.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Central precocious puberty as the initial manifestation of multisystem involvement caused byFrontiers in endocrinology · 2026Article
- Novel heterozygous mutation in KMT2B causing an unusual phenotypic presentation: a comprehensive clinical and bioinformatic analysis.Molecular biology reports · 2025Article
- Article
- Bi-pallidal deep brain stimulation as an effective therapy in atypical two-stage evolution adult-onsetClinical parkinsonism & related disorders · 2025Article
- [Phenotypic and genotypic spectrum of KMT2B dystonia. Description of three Colombian patients].Revista de neurologia · 2024Article
- Response to: Are there two disjunct episignatures for KMT2B-related disease?Brain communications · 2024Article
- Are there two disjunct episignatures for KMT2B-related disease?Brain communications · 2024Article
- Diagnostic utility of DNA methylation episignature analysis for early diagnosis of KMT2B-related disorders: case report.Frontiers in genetics · 2024Article
- Article
Corrections and comments
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Authors and funding
23 authors at 12 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
KMT2B-related dystonia (DYT-KMT2B, also known as DYT28) is an autosomal dominant neurological disorder characterized by varying combinations of generalized dystonia, psychomotor developmental delay, mild-to-moderate intellectual disability and short stature. Disease onset occurs typically before 10 years of age. We report the clinical and genetic findings of a series of subjects affected by adult-onset dystonia, hearing loss or intellectual disability carrying rare heterozygous
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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.