ReviewCurrent opinion in neurology2012
Myotonic dystrophy: is a narrow focus obscuring the rest of the field?
Review in Current opinion in neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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
19 citing papers in PubMed, 24 citations in OpenAlex.
- Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions.World journal of methodology · 2025Article
- hnRNP L is essential for myogenic differentiation and modulates myotonic dystrophy pathologies.Muscle & nerve · 2021Article
- The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I.Journal of clinical medicine · 2020Review
- MyomiRNAs and myostatin as physical rehabilitation biomarkers for myotonic dystrophy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- Pharmacological and physiological activation of AMPK improves the spliceopathy in DM1 mouse muscles.Human molecular genetics · 2018Article
- Review
- Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management.Nature reviews. Neurology · 2016Review
- Staufen1 impairs stress granule formation in skeletal muscle cells from myotonic dystrophy type 1 patients.Molecular biology of the cell · 2016Article
- Staufen1 Regulates Multiple Alternative Splicing Events either Positively or Negatively in DM1 Indicating Its Role as a Disease Modifier.PLoS genetics · 2016Article
- TWEAK/Fn14, a pathway and novel therapeutic target in myotonic dystrophy.Human molecular genetics · 2015Article
- Fragile X-associated tremor/ataxia syndrome.Annals of the New York Academy of Sciences · 2015Review
- The RNA-binding protein Staufen1 impairs myogenic differentiation via a c-myc-dependent mechanism.Molecular biology of the cell · 2014Article
- RNA-protein interactions in unstable microsatellite diseases.Brain research · 2014Review
- RNA-binding protein misregulation in microsatellite expansion disorders.Advances in experimental medicine and biology · 2014Review
- RNA-mediated toxicity in neurodegenerative disease.Molecular and cellular neurosciences · 2013Review
- The perinucleolar compartment associates with malignancy.Frontiers in biology · 2013Article
- Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms.Acta neuropathologica · 2013Review
- Antisense oligonucleotides: rising stars in eliminating RNA toxicity in myotonic dystrophy.Human gene therapy · 2013Review
- Review
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 at 1 institution in 1 country.
Funding
Abstract
purpose of reviewThe myotonic dystrophies (DM1 and DM2) are the paradigm for RNA toxicity in disease pathogenesis. The emphasis of this review will be on recent developments and issues in understanding the pathogenesis of DM1 and how this is driving the accelerated pace of translational and therapeutic developments. RECENT
findingsRNA toxicity in myotonic dystrophy is now associated with bi-directional antisense transcription, dysregulation of microRNAs and potentially non-ATG-mediated translation of homopolymeric toxic proteins. The role of other RNA-binding proteins beyond MBNL1 and CUGBP1, such as Staufen 1 and DDX5, are being identified and studied with respect to their role in myotonic dystrophy. New functions for MBNL1 in miR-1 biogenesis might have a clinically relevant role in myotonic dystrophy cardiac conduction defects and pathology. Advances are being made in identifying and characterizing small molecules with the potential to disrupt CUG-MBNL1 interactions. SUMMARY: Mechanisms of RNA toxicity are moving beyond a simplistic 'foci-centric' view of DM1 pathogenesis as a spliceopathy due to MBNL1 sequestration. Therapeutic development for myotonic dystrophy is moving rapidly with the development of antisense and small molecule therapies. Clinically, significant emphasis is being placed on biomarker discovery and outcome measures as an essential prelude to clinical trials.
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Identifiers
What OpenQuestion holds
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.