ReviewThe application of clinical genetics2021
Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance.
Review in The application of clinical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 91 papers, 1 of them a synthesis that pooled it.
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
91 citing papers in PubMed, 1 synthesis or guideline pooled it, 152 citations in OpenAlex.
- Children with a rare congenital genetic disorder: a systematic review of parent experiences.Orphanet journal of rare diseases · 2022Pooled it
- Clinical Practice of Single-Molecule Real-Time Sequencing in the Diagnosis of Spinal Muscular Atrophy.Molecular genetics & genomic medicine · 2026Article
- digitalMLPA EZtec-MS: A new highly multiplexed DNA probe-based technique for neonatal screening.European journal of human genetics : EJHG · 2026Article
- Using human 3D organoid models to gain mechanistic insight in motor neuron diseases.Nature reviews. Neuroscience · 2026Review
- RNA-Based Therapeutics in Genetic Neurodevelopmental Disorders: Bridging Molecular Genetics and Precision Medicine.International journal of molecular sciences · 2026Review
- Brain Morphological Alterations in Adults with Spinal Muscular Atrophy Types 2 and 3: A CAT12-Derived Region-Based and Surface-Based Morphometry Study.Journal of clinical medicine · 2026Article
- Spinal muscular atrophy in India: Patient journey, access to care, treatment barriers, and strategic recommendations: Insights from experts.Journal of neuromuscular diseases · 2026Review
- Determinants of hepatic enzyme elevations following onasemnogene abeparvovec: Results from a unified immunomodulation protocol.Journal of neuromuscular diseases · 2026Article
- CT-guided Lumbar Puncture for Intrathecal Nusinersen Injection in Patients with Spinal Muscular Atrophy: Technical Effectiveness, Safety, and Radiation Dose.Clinical neuroradiology · 2026Article
- Multimodal characterisation of the SMN locus in SMA: copy number quantification and hybrid gene identification.NPJ genomic medicine · 2026Article
- Patient-reported clinical characteristics and healthcare utilization in Spinal Muscular Atrophy (SMA): a cross-sectional study from Iran.Orphanet journal of rare diseases · 2026Article
- Acceptability of newborn screening for spinal muscular atrophy: views of the UK public, screened families, health professionals and the SMA community.European journal of human genetics : EJHG · 2026Article
- Gene Targeted Therapies for Neurodegenerative Disorders: Strategies and Implications in ALS and SMA.Genes · 2026Review
- Growth Hormone Strongly Induces hJournal of clinical research in pediatric endocrinology · 2026Article
- Administration practice and adherence of nusinersen in adults with 5q-spinal muscular atrophy in China: an ambispective multicenter study.BMC neurology · 2026Observational
- Locked nucleic acid (LNA) based PCR approach for the diagnosis and screening of spinal muscular atrophy.The Indian journal of medical research · 2026Article
- SMΝΔ7 mice show breathing and airflow defects with significant pathology of respiratory and oral tract tissues.Frontiers in cellular neuroscience · 2026Article
- Review
- Article
- Real-world evidence of Nusinersen treatment for patients with spinal muscular atrophy in the Kingdom of Saudi Arabia: Initial insights from the Saudi national spinal muscular atrophy program.Saudi medical journal · 2025Article
31 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder that causes degeneration of the alpha motor neurons from anterior horn cells in the spinal cord, which causes severe progressive hypotonia and muscular weakness. With a carrier frequency of 1 in 40-50 and an estimated incidence of 1 in 10,000 live births, SMA is the second most common autosomal recessive disorder. Affected individuals with SMA have a homozygous loss of function of the survival motor neuron gene
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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.