ReviewJournal of medical genetics1999
Spinal muscular atrophy: untangling the knot?
Review in Journal of medical genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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
17 citing papers in PubMed, 71 citations in OpenAlex.
- Article
- Locked nucleic acid (LNA) based PCR approach for the diagnosis and screening of spinal muscular atrophy.The Indian journal of medical research · 2026Article
- Efficient near telomere-to-telomere assembly of Nanopore Simplex reads.bioRxiv : the preprint server for biology · 2025Article
- Review
- Genomic variant benchmark: if you cannot measure it, you cannot improve it.Genome biology · 2023Review
- Curated variation benchmarks for challenging medically relevant autosomal genes.Nature biotechnology · 2022Article
- SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the "2+0" genotype.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- Functional Segments on Intrinsically Disordered Regions in Disease-Related Proteins.Biomolecules · 2019Article
- Network biology concepts in complex disease comorbidities.Nature reviews. Genetics · 2016Review
- Methylation levels of SLC23A2 and NCOR2 genes correlate with spinal muscular atrophy severity.PloS one · 2015Article
- Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy.Journal of neurodegenerative diseases · 2013Article
- Deletion analysis of SMN and NAIP genes in Tunisian patients with spinal muscular atrophy.Annals of Indian Academy of Neurology · 2013Article
- Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III.BMC medical genetics · 2011Article
- Human copy number variation and complex genetic disease.Annual review of genetics · 2011Article
- Collagen VI related muscle disorders.Journal of medical genetics · 2005Review
- Study of survival of motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) gene deletions in SMA patients.Journal of neurology · 2005Article
- SMN1 dosage analysis in spinal muscular atrophy from India.BMC medical genetics · 2005Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinal muscular atrophy (SMA), a clinically and genetically heterogeneous group of neuromuscular diseases, is a disorder of motor neurones characterised by degeneration of spinal cord anterior horn cells and muscular atrophy. SMA is an autosomal recessive disorder with a carrier frequency of about 1150. Three candidate genes, the survival motor neurone (SMN) gene, the neuronal inhibitory protein (NAIP) gene, and the p44 (subunit of basal transcription factor TFIIH) gene, have been considered as genes involved in this condition. The region spanning these genes has a complex organisation including duplications, repetitive sequences, truncated genes, and pseudogenes, which makes molecular analysis of this condition difficult. Although deletions have been found in the majority of SMA patients, a few microrearrangements (like duplications, missense mutations, microdeletions, and gene conversions) localised in the telomeric form of the SMN gene have also been reported. The function of the protein encoded by the SMN gene is still not fully understood but recent studies have indicated that it is found intracellularly in gems, novel nuclear structures. Its interaction with other proteins suggests a role in mRNA processing and metabolism. Whether the NAIP gene protein and other apoptosis associated proteins are directly involved in the initial stages of neurone degeneration and apoptosis, or acting downstream on the pathological pathway, has been difficult to determine. Further studies will be required to elucidate possible functional interactions between these proteins.
Indexed as
Identifiers
9950358PMC1762953W1879267260What 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.