ArticleBrain communications2021
Identification of
Article in Brain communications, 2021. 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
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
9 citing papers in PubMed, 15 citations in OpenAlex.
- Whole-exome sequencing identifies matrisomal gene associations in monogenic cerebral small vessel disease.Journal of neurology · 2026Article
- Novel LAMA1 Mutations in a Pedigree With Poretti-Boltshauser Syndrome: Implications for Hypomyelination.Molecular genetics & genomic medicine · 2026Article
- A Review of the Ocular Phenotype and Correlation with Genotype in Poretti-Boltshauser Syndrome.Medicina (Kaunas, Lithuania) · 2025Review
- Phenotypic variability in two siblings with Poretti-Boltshauser syndrome.Global medical genetics · 2025Article
- Poretti-Boltshauser Syndrome: A Report of Two Cases From Bahrain With a Novel Mutation and Literature Review.Cureus · 2025Article
- Prenatal Diagnosis of Poretti-Boltshauser Syndrome - a Case Report of a Molar Tooth Sign Mimic.Cerebellum (London, England) · 2024Article
- Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.Genes · 2024Article
- Artificial intelligence and the analysis of cryo-EM data provide structural insight into the molecular mechanisms underlying LN-lamininopathies.Scientific reports · 2023Article
- Genotype-phenotype correlates in Joubert syndrome: A review.American journal of medical genetics. Part C, Seminars in medical genetics · 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
18 authors at 8 institutions in 2 countries.
Funding
Abstract
Paediatric neurology syndromes are a broad and complex group of conditions with a large spectrum of clinical phenotypes. Joubert syndrome is a genetically heterogeneous neurological ciliopathy syndrome with molar tooth sign as the neuroimaging hallmark. We reviewed the clinical, radiological and genetic data for several families with a clinical diagnosis of Joubert syndrome but negative genetic analysis. We detected biallelic pathogenic variants in
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.