ArticleIntractable & rare diseases research2018
Ataxia with ocular apraxia type 2 not responding to 4-aminopyridine: A rare mutation in the
Article in Intractable & rare diseases research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
8 citing papers in PubMed, 6 citations in OpenAlex.
- Ataxia with oculomotor apraxia type 2 due to the new compound heterozygous variants c.5825T>C (inherited) and c.6106+1G>T (de novo) in SETX.Clinics (Sao Paulo, Brazil) · 2026Article
- Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene.Journal of applied genetics · 2026Article
- Exome Sequencing uncovers Homozygous Stop-Gained variant in thePakistan journal of medical sciences · 2026Article
- Clinical whole Exome Sequencing Reveals Novel Homozygous Missense Variant in thePakistan journal of medical sciences · 2024Article
- Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders.Genes · 2023Article
- Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon.Journal of molecular neuroscience : MN · 2022Article
- Review
- A novel mutation inIntractable & rare diseases research · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ataxia with ocular apraxia type 2 is an autosomal recessive disorder caused by a mutation in the senataxin (
Indexed as
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.