ReviewBiochimica et biophysica acta. Molecular basis of disease2021
Spinal muscular atrophy: Broad disease spectrum and sex-specific phenotypes.
Review in Biochimica et biophysica acta. Molecular basis of disease, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
What it found
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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.
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Who cites it
36 citing papers in PubMed.
- Nusinersen: the antisense oligonucleotide at the forefront of spinal muscular atrophy treatment.RNA biology · 2026Review
- Changes in the cortical GABAergic inhibitory system in a Spinal Muscular Atrophy mouse model.Cell death & disease · 2026Article
- Lymphoid Organ Architecture and Hematopoiesis Disruption in Spinal Muscular Atrophy: Therapeutic Rescue by SMN Restoration.International journal of molecular sciences · 2026Article
- Pregnancy in women with spinal muscular atrophy (SMA): maternal and neonatal outcomes with multi-speciality management.Journal of neurology · 2026Article
- Arginine methylation-dependent METTL14-SMN interaction regulates RNA mEMBO reports · 2025Article
- Comorbidities in spinal muscular atrophy and their impact on the course of the underlying disease: a real-life observational study.BMC musculoskeletal disorders · 2025Observational
- Antenatal Ultrasound Findings in Spinal Muscular Atrophy Type 0.Molecular genetics & genomic medicine · 2025Review
- Assessment of HJV and SMN1 gene expression levels in infertile men: laboratory and bioinformatic approaches.Molecular biology reports · 2025Article
- Different factors underlie mild and severe forms of spinal muscular atrophy.Brain : a journal of neurology · 2025Article
- Case Report: Spinal muscular atrophy with IgA nephropathy: a coincidence or association?Frontiers in pediatrics · 2025Article
- Spinal muscular atrophy is also a disorder of spermatogenesis.Orphanet journal of rare diseases · 2024Article
- Comparison of the Mitophagy and Apoptosis Related Gene Expressions in Waste Embryo Culture Medium of Female Infertility Types.Life (Basel, Switzerland) · 2024Article
- Sensory dysfunction in SMA type 2 and 3 - adaptive mechanism or concomitant target of damage?Orphanet journal of rare diseases · 2024Article
- Male Reproduction in Spinal Muscular Atrophy (SMA) and the Potential Impact of Oral Survival of Motor Neuron 2 (SMN2) Pre-mRNA Splicing Modifiers.Neurology and therapy · 2024Article
- The Impact of Comorbidities and Motor Impairment on the Quality of Life of Patients with Spinal Muscular Atrophy: A Case-Control Study.Journal of clinical medicine · 2024Article
- Analysis of the efficacy and adverse effects of nusinersen in the treatment of children with spinal muscular atrophy in China.Brain and behavior · 2024Observational
- Transcriptome- and proteome-wide effects of a circular RNA encompassing four early exons of the spinal muscular atrophy genes.Scientific reports · 2024Article
- A super minigene with a short promoter and truncated introns recapitulates essential features of transcription and splicing regulation of the SMN1 and SMN2 genes.Nucleic acids research · 2024Article
- No significant sex differences in incidence or phenotype for the SMNΔ7 mouse model of spinal muscular atrophy.Neuromuscular disorders : NMD · 2024Article
- Transcriptome- and proteome-wide effects of a circular RNA encompassing four early exons of the spinal muscular atrophy genes.Research square · 2024Article
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
Spinal muscular atrophy (SMA) is one of the major genetic disorders associated with infant mortality. More than 90% of cases of SMA result from deletions of or mutations in the Survival Motor Neuron 1 (SMN1) gene. SMN2, a nearly identical copy of SMN1, does not compensate for the loss of SMN1 due to predominant skipping of exon 7. The spectrum of SMA is broad, ranging from prenatal death to infant mortality to survival into adulthood. All tissues, including brain, spinal cord, bone, skeletal muscle, heart, lung, liver, pancreas, gastrointestinal tract, kidney, spleen, ovary and testis, are directly and/or indirectly affected in SMA. Accumulating evidence on impaired mitochondrial biogenesis and defects in X chromosome-linked modifying factors, coupled with the sexual dimorphic nature of many tissues, point to sex-specific vulnerabilities in SMA. Here we review the role of sex in the pathogenesis of SMA.
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Registered trials
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