ReviewActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2020
25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy.
Review in Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 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
4 citing papers in PubMed.
- Risdiplam therapy in adult patients with Spinal muscular Atrophy (SMA). A 24-month-real-world experience at a single muscular centre.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2026Article
- Targeted antisense oligonucleotide treatment rescues developmental alterations in spinal muscular atrophy organoids.Nature communications · 2025Article
- Single NucleotideNeurology. Genetics · 2025Article
- Peripheral circulation disturbances in two consecutive children with spinal muscular atrophy and literature review.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 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
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The new era of advanced therapies has influenced and changed the views and perspectives of a neuromuscular disease such as spinal muscular atrophy (SMA). Being an autosomal recessive motor neuron disorder, characterized by different degrees of muscle weakness, after 25 years of the discovery of the determinant and modifier genes (SMN1 and SMN2, respectively) three SMN-dependent specific therapies are already approved by FDA (two by EMA), so that worldwide patients are currently under clinical investigation and treatment. This success was the combined effort mainly of patients and families, physician and researchers, advocacy groups and several Institutions together with the support of pharmaceutical companies. Progression trajectories, phenotypes, follow-up and care of the patients are continously evolving. Clinical investigations are currently demonstrating that early diagnosis and intervention are essential for better and more effective response to treatment, consistently improving prognosis. This scenario has created the need for awareness, early diagnosis and even implementation of of newborn screening programs. New views and perspectives of patient and family expectations, genetic counselling and multidisciplinary care: a truly Copernican revolution in neuromuscular and genetic diseases.
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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.