ArticleFrontiers in genetics2020
Spinal Muscular Atrophy in the Black South African Population: A Matter of Rearrangement?
Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 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
14 citing papers in PubMed, 20 citations in OpenAlex.
- Equity in neuromuscular research: a 20-year analysis of race, ethnicity, sex, and age representation.Journal of neurology · 2025Article
- Incidence of HomozygousGenes · 2025Article
- Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Article
- Utility of next generation sequencing in paediatric neurological disorders: experience from South Africa.European journal of human genetics : EJHG · 2024Article
- Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets.medRxiv : the preprint server for health sciences · 2024Article
- Gene therapy-based strategies for spinal muscular atrophy-an Asia-Pacific perspective.Molecular and cellular pediatrics · 2023Review
- Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans.Neurology. Genetics · 2023Article
- Article
- A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.Orphanet journal of rare diseases · 2022Review
- Article
- Obligations of the "Gift": Reciprocity and Responsibility in Precision Medicine.The American journal of bioethics : AJOB · 2021Article
- Spinal muscular atrophy - insights and challenges in the treatment era.Nature reviews. Neurology · 2020Review
- Intragenic and structural variation in theBrain communications · 2020Article
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 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinal muscular atrophy (SMA) is a neuromuscular disorder, characterized by muscle atrophy and impaired mobility. A homozygous deletion of survival motor neuron 1 (
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.