ArticleNeurology. Genetics2026
Autosomal Dominant
Article in Neurology. Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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
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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- Introducing a novel variant in the FTH1 gene; A closer look at FTH1-related neuroferritinopathy as a neurodegeneration with brain iron accumulation (NBIA) disorder.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objectives: We report on a patient with a distinct clinical and neuroradiologic phenotype and a de novo variant in the Methods: The patient was a 25-year-old woman with developmental delay and pontocerebellar hypoplasia, who after years of stable condition visited our hospital at age 20 years because of clinical deterioration. With consent from the patients' family, we obtained clinical, imaging, and genetic data from the patient's medical record. Results: Neurologic examination demonstrated a new hypertonia, ataxia, dystonia, dysarthria, and apathy. Cerebral MRI revealed new bilateral symmetrical signal abnormalities of the basal nuclei, thalamus, cerebral peduncles, and hippocampus, indicating iron accumulation. Exome sequencing revealed a de novo monoallelic variant in the Discussion: Similar de novo
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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.