ReviewDegenerative neurological and neuromuscular disease2020
Advances in Newborn Screening and Presymptomatic Diagnosis of Spinal Muscular Atrophy.
Review in Degenerative neurological and neuromuscular disease, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 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
22 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis.Orphanet journal of rare diseases · 2021Pooled it
- Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial.Nature medicine · 2022Trial
- The role of sleep-disordered breathing in adolescents with spinal muscular atrophy.Sleep & breathing = Schlaf & Atmung · 2026Review
- Longitudinal multi-omics profiling of spinal muscular atrophy.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Article
- Risdiplam treatment following onasemnogene abeparvovec in individuals with spinal muscular atrophy: a multicenter case series.BMC neurology · 2025Article
- IL-1ra and CCL5, but not IL-10, are promising targets for treating SMA astrocyte-driven pathology.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Rehabilitation improves the effectiveness of nusinersen in children with type 2 spinal muscular atrophy: pNF-H and muscle MRI as potential biomarkers.Frontiers in neurology · 2025Article
- Why should a 5q spinal muscular atrophy neonatal screening program be started?Arquivos de neuro-psiquiatria · 2024Review
- Systematic Review of Presymptomatic Treatment for Spinal Muscular Atrophy.International journal of neonatal screening · 2024Review
- Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy.International journal of neonatal screening · 2024Review
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Variants located in intron 6 ofHeliyon · 2024Article
- Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies.International journal of molecular sciences · 2023Review
- Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation.International journal of neonatal screening · 2023Article
- Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province.BMC medical genomics · 2023Article
- Adeno-associated virus serotype 9 antibody titers in patients with SMA pre-screened for treatment with onasemnogene abeparvovec -routine care evidence.Gene therapy · 2023Article
- Spinal muscular atrophy.Nature reviews. Disease primers · 2022Review
- Experience and Perspectives in the US on the Evolving Treatment Landscape in Spinal Muscular Atrophy.International journal of general medicine · 2022Article
- Views of the General Population on Newborn Screening for Spinal Muscular Atrophy in Japan.Children (Basel, Switzerland) · 2021Article
- Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs.International journal of neonatal screening · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinal muscular atrophy 5q (SMA5q) is one of the most severe and common genetic diseases. In the natural course, the disease leads to premature death (in acute forms) or severe motor disability (in chronic forms). As the genetic basis of SMA is very homogenous, the diagnostics are based entirely on simple and sensitive genetic testing. In the last few years, innovative methods of therapy have been developed based on
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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.