ReviewNeurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics2014
Spinal muscular atrophy: journeying from bench to bedside.
Review in Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Systematic Literature Review of Clinical and Economic Evidence for Spinal Muscular Atrophy.Advances in therapy · 2022Pooled it
- Electrochemical Detection of SMN Protein by Immunosensors: The Role of Surface Modifications in Screen-Printed Carbon Electrodes.Sensors (Basel, Switzerland) · 2026Article
- Recent Progress in Gene-Targeting Therapies for Spinal Muscular Atrophy: Promises and Challenges.Genes · 2024Review
- Transcriptome- and proteome-wide effects of a circular RNA encompassing four early exons of the spinal muscular atrophy genes.Scientific reports · 2024Article
- Transcriptome- and proteome-wide effects of a circular RNA encompassing four early exons of the spinal muscular atrophy genes.Research square · 2024Article
- U1 snRNA interactions with deep intronic sequences regulate splicing of multiple exons of spinal muscular atrophy genes.Frontiers in neuroscience · 2024Article
- Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry.Journal of neuromuscular diseases · 2024Article
- Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy.Frontiers in neurology · 2024Review
- Motor unit changes in children with symptomatic spinal muscular atrophy treated with nusinersen.Journal of neurology, neurosurgery, and psychiatry · 2020Article
- Therapeutic strategies for glucose transporter 1 deficiency syndrome.Annals of clinical and translational neurology · 2019Review
- Specific inhibition of myostatin activation is beneficial in mouse models of SMA therapy.Human molecular genetics · 2019Article
- How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy.Gene therapy · 2017Review
- TIA1 is a gender-specific disease modifier of a mild mouse model of spinal muscular atrophy.Scientific reports · 2017Article
- Gender-Specific Amelioration of SMA Phenotype upon Disruption of a Deep Intronic Structure by an Oligonucleotide.Molecular therapy : the journal of the American Society of Gene Therapy · 2017Article
- SMN - A chaperone for nuclear RNP social occasions?RNA biology · 2017Review
- Emerging therapies and challenges in spinal muscular atrophy.Annals of neurology · 2017Review
- Diverse role of survival motor neuron protein.Biochimica et biophysica acta. Gene regulatory mechanisms · 2017Review
- ISS-N1 makes the First FDA-approved Drug for Spinal Muscular Atrophy.Translational neuroscience · 2017Article
- ML372 blocks SMN ubiquitination and improves spinal muscular atrophy pathology in mice.JCI insight · 2016Article
- Severe impairment of male reproductive organ development in a low SMN expressing mouse model of spinal muscular atrophy.Scientific reports · 2016Article
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
Spinal muscular atrophy (SMA) is a frequently fatal neuromuscular disorder and the most common inherited cause of infant mortality. SMA results from reduced levels of the survival of motor neuron (SMN) protein. Although the disease was first described more than a century ago, a precise understanding of its genetics was not obtained until the SMA genes were cloned in 1995. This was followed in rapid succession by experiments that assigned a role to the SMN protein in the proper splicing of genes, novel animal models of the disease, and the eventual use of the models in the pre clinical development of rational therapies for SMA. These successes have led the scientific and clinical communities to the cusp of what are expected to be the first truly promising treatments for the human disorder. Yet, important questions remain, not the least of which is how SMN paucity triggers a predominantly neuromuscular phenotype. Here we review how our understanding of the disease has evolved since the SMA genes were identified. We begin with a brief description of the genetics of SMA and the proposed roles of the SMN protein. We follow with an examination of how the genetics of the disease was exploited to develop genetically faithful animal models, and highlight the insights gained from their analysis. We end with a discussion of ongoing debates, future challenges, and the most promising treatments to have emerged from our current knowledge of the disease.
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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.