Evidence map›Paper›PMID 35008780›Full record

ReviewInternational journal of molecular sciences2021

Molecular and Clinical Implications of Variant Repeats in Myotonic Dystrophy Type 1.

Stojan Peric, Jovan Pesovic, Dusanka Savic-Pavicevic, Vidosava Rakocevic Stojanovic, Giovanni Meola

Abstract readReview
In one paragraph

Review in International journal of molecular sciences, 2021. 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.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 1 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

22 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2024
    Guideline
  2. Article
  3. Review
  4. Article
  5. Review
  6. Article
  7. Review
  8. Article
  9. Review
  10. Review
  11. Myotonic dystrophies: an update on clinical features, molecular mechanisms, management, and gene therapy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Review
  12. Article
  13. Article
  14. Review
  15. International journal of molecular sciences · 2023
    Article
  16. Article
  17. Myotonic Dystrophy: From Molecular Pathogenesis to Therapeutics.International journal of molecular sciences · 2022
    Article
  18. Article
  19. Review
  20. Targeting Myotonic Dystrophy Type 1 with Metformin.International journal of molecular sciences · 2022
    Review
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

5 authors.

Stojan PericFaculty of Medicine, Neurology Clinic, University Clinical Centre of Serbia, University of Belgrade, 11 000 Belgrade, Serbia.ORCID 0000-0002-2979-556X
Jovan PesovicCenter for Human Molecular Genetics, Faculty of Biology, University of Belgrade, 11 000 Belgrade, Serbia.
Dusanka Savic-PavicevicCenter for Human Molecular Genetics, Faculty of Biology, University of Belgrade, 11 000 Belgrade, Serbia.ORCID 0000-0002-2079-4077
Vidosava Rakocevic StojanovicFaculty of Medicine, Neurology Clinic, University Clinical Centre of Serbia, University of Belgrade, 11 000 Belgrade, Serbia.
Giovanni MeolaDepartment of Biomedical Sciences for Health, University of Milan, 20100 Milan, Italy.ORCID 0000-0001-6396-717X

Funding

The Ministry of Education, Science and Technological Development of the Republic of Serbia 451-03-9/2021-14/200178
6 · The paper itself

Abstract

Myotonic dystrophy type 1 (DM1) is one of the most variable monogenic diseases at phenotypic, genetic, and epigenetic level. The disease is multi-systemic with the age at onset ranging from birth to late age. The underlying mutation is an unstable expansion of CTG repeats in the

Indexed as

AnimalsDNA MethylationHumansMolecular Sequence AnnotationMyotonic DystrophyMyotonin-Protein KinasePhenotypeTrinucleotide Repeat ExpansionMyotonin-Protein Kinaseage at onsetDMPK genegenetic modifiermyotonic dystrophy type 1phenotype variabilityrepeat expansionsrepeat interruptionssomatic mosaicismvariant repeats

Identifiers

PMID35008780
PMCPMC8745394

What OpenQuestion holds

Textmetadata
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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.