ArticleNeurology. Genetics2022
Clinical Evidence for Variegated Silencing in Patients With Friedreich Ataxia.
Article in Neurology. Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 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
9 citing papers in PubMed, 10 citations in OpenAlex.
- Serial assessment of echocardiographic measures in Friedreich ataxia.American heart journal plus : cardiology research and practice · 2026Article
- Neuroimaging Biomarkers for Friedreich Ataxia: A Cross-Sectional Analysis of the TRACK-FA Study.Annals of neurology · 2025Observational
- Insights into AlphaFold's breakthrough in neurodegenerative diseases.Irish journal of medical science · 2024Review
- Expression and processing of mature human frataxin after gene therapy in mice.Scientific reports · 2024Article
- Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data.Annals of clinical and translational neurology · 2024Article
- Expression and processing of mature human frataxin after gene therapy in mice.Research square · 2023Article
- Retinal hypoplasia and degeneration result in vision loss in Friedreich ataxia.Annals of clinical and translational neurology · 2023Article
- Liquid Chromatography-Mass Spectrometry Analysis of Frataxin Proteoforms in Whole Blood as Biomarkers of the Genetic Disease Friedreich's Ataxia.Analytical chemistry · 2023Article
- Friedreich ataxia: clinical features and new developments.Neurodegenerative disease management · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Objectives: Friedreich ataxia (FRDA) is a neurodegenerative disease caused by a GAA triplet repeat (GAA-TR) expansion in intron 1 of the Methods: The FRDA Clinical Outcome Measures Study database was used for a cross-sectional analysis of 1,000 patients with FRDA. Frataxin levels were determined by lateral flow immunoassays. Results: The length of the GAA-TR in our cohort predicted frataxin level (R Discussion: Our data suggest that there is a ceiling effect on the clinical consequences of GAA-TR length in FRDA, as would be predicted by variegated silencing. Patients with GAA-TRs of >700 triplets represent a subgroup in which the severity of clinical manifestations based on GAA-TR length have reached maximal levels and therefore display limited clinical variability in disease progression.
Identifiers
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.