Evidence map›Paper›PMID 26457695›Full record

ReviewMolecules (Basel, Switzerland)2015

Duchenne Muscular Dystrophy: From Diagnosis to Therapy.

Maria Sofia Falzarano, Chiara Scotton, Chiara Passarelli, Alessandra Ferlini

Open access · goldAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Molecules (Basel, Switzerland), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 137 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
137citing papers in PubMed, 1 pooled it
7.8field-weighted citation impact, top 2% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

137 citing papers in PubMed, 1 synthesis or guideline pooled it, 290 citations in OpenAlex.

  1. Pooled it
  2. Trial
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  5. Early phase 2 trial of TAS-205 in patients with Duchenne muscular dystrophy.Annals of clinical and translational neurology · 2020
    Trial
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  8. Review
  9. Optoacoustic muscle imaging.Journal of neuromuscular diseases · 2026
    Review
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77 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 2 institutions in 1 country.

Maria Sofia FalzaranoUnit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, 44121 Italy. flzmsf@unife.it.
Chiara ScottonUnit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, 44121 Italy. sctchr@unife.it.
Chiara PassarelliBambino Gesù Hospital, Rome, 00146, Italy. psschr@unife.it.
Alessandra FerliniUnit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, 44121 Italy. fla@unife.it.
University of Ferrara · ITBambino Gesù Children's Hospital · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Duchenne muscular dystrophy (DMD) is an X-linked inherited neuromuscular disorder due to mutations in the dystrophin gene. It is characterized by progressive muscle weakness and wasting due to the absence of dystrophin protein that causes degeneration of skeletal and cardiac muscle. The molecular diagnostic of DMD involves a deletions/duplications analysis performed by quantitative technique such as microarray-based comparative genomic hybridization (array-CGH), Multiple Ligation Probe Assay MLPA. Since traditional methods for detection of point mutations and other sequence variants require high cost and are time consuming, especially for a large gene like dystrophin, the use of next-generation sequencing (NGS) has become a useful tool available for clinical diagnosis. The dystrophin gene is large and finely regulated in terms of tissue expression, and RNA processing and editing includes a variety of fine tuned processes. At present, there are no effective treatments and the steroids are the only fully approved drugs used in DMD therapy able to slow disease progression. In the last years, an increasing variety of strategies have been studied as a possible therapeutic approach aimed to restore dystrophin production and to preserve muscle mass, ameliorating the DMD phenotype. RNA is the most studied target for the development of clinical strategies and Antisense Oligonucleotides (AONs) are the most used molecules for RNA modulation. The identification of delivery system to enhance the efficacy and to reduce the toxicity of AON is the main purpose in this area and nanomaterials are a very promising model as DNA/RNA molecules vectors. Dystrophinopathies therefore represent a pivotal field of investigation, which has opened novel avenues in molecular biology, medical genetics and novel therapeutic options.

Indexed as

MutationAnimalsComparative Genomic HybridizationDystrophinGenetic TherapyHigh-Throughput Nucleotide SequencingHumansMolecular Diagnostic TechniquesMuscular Dystrophy, DuchenneOligonucleotides, AntisenseSequence Analysis, DNADMD protein, humanDystrophinOligonucleotides, Antisenseantisense deliveryAntisense OligonucleotidesDMD therapydystrophinmolecular diagnosis

Identifiers

PMID26457695
PMCPMC6332113
OpenAlexW2171854062

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.