Evidence map›Paper›PMID 25037086›Full record

ReviewNeurologic clinics2014

Myotonic dystrophy.

Charles A Thornton

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Neurologic clinics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 221 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
221citing papers in PubMed, 6 pooled it
–field-weighted citation impact
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

221 citing papers in PubMed, 6 syntheses or guidelines pooled it.

  1. Pooled it
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  12. Review
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  14. Review
  15. Article
  16. Article
  17. The novel (TCTG)Human genomics · 2026
    Article
  18. Article
  19. Antisense RNA therapies for muscular dystrophies.Journal of neuromuscular diseases · 2026
    Review
  20. Aberrant Splicing ofCirculation. Genomic and precision medicine · 2026
    Article

161 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

1 author.

Charles A ThorntonDepartment of Neurology, Center for Neural Development and Disease, Center for RNA Biology, University of Rochester Medical Center, Box 645, 601 Elmwood Avenue, Rochester, NY 14642, USA. Electronic address: charles_thornton@urmc.rochester.edu.

Funding

Training and Educational CoreU54NS048843 · NINDS · UNIVERSITY OF ROCHESTER · PI DIRKSEN, ROBERT T · 2003 to 2017
$21.9M
NINDS NIH HHS U54 NS048843NINDS NIH HHS U54NS48843
6 · The paper itself

Abstract

Myotonic dystrophy (dystrophia myotonica, DM) is one of the most common lethal monogenic disorders in populations of European descent. DM type 1 was first described over a century ago. More recently, a second form of the disease, DM type 2 was recognized, which results from repeat expansion in a different gene. Both disorders have autosomal dominant inheritance and multisystem features, including myotonic myopathy, cataract, and cardiac conduction disease. This article reviews the clinical presentation and pathophysiology of DM and discusses current management and future potential for developing targeted therapies.

Indexed as

EuropeFemaleHumansMaleMyotonic DystrophyElectrophysiologyExpanded DNA repeatMyopathyMyotonic dystrophy

Identifiers

PMID25037086
PMCPMC4105852

What OpenQuestion holds

Textmetadata
LicenceTDM
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.