Evidence map›Paper›PMID 39703464›Full record

ArticleNeurology. Genetics2025

Updated Structure of

Martin Wendlandt, Hannes Erdmann, Simone Rost, Morghan C Lucas, Kerstin Becker, Stephanie Kleinle, Manuela Timmer, Andrea Bier, Gilbert Wunderlich, Stephan Wenninger and 5 more

Abstract read
In one paragraph

Article in Neurology. Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–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

3 citing papers in PubMed.

  1. Article
  2. The novel (TCTG)Human genomics · 2026
    Article
  3. Article
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

15 authors.

Martin WendlandtMGZ-Medical Genetics Center, Munich.ORCID https://orcid.org/0009-0007-7151-3961
Hannes ErdmannMGZ-Medical Genetics Center, Munich.ORCID https://orcid.org/0000-0002-2620-1850
Simone RostMGZ-Medical Genetics Center, Munich.ORCID https://orcid.org/0009-0008-3182-0876
Morghan C LucasMGZ-Medical Genetics Center, Munich.ORCID https://orcid.org/0000-0001-7654-9137
Kerstin BeckerMGZ-Medical Genetics Center, Munich.
Stephanie KleinleMGZ-Medical Genetics Center, Munich.ORCID https://orcid.org/0000-0003-0135-7143
Manuela TimmerGemeinschaftspraxis für Humangenetik Dresden; and.ORCID https://orcid.org/0009-0003-6599-0578
Andrea BierGemeinschaftspraxis für Humangenetik Dresden; and.ORCID https://orcid.org/0009-0003-4809-1044
Gilbert WunderlichDepartment of Neurology and Center for Rare Diseases, Faculty of Medicine and University Hospital, University of Cologne, Germany.ORCID https://orcid.org/0000-0001-5544-335X
Stephan WenningerFriedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, LMU Munich.ORCID https://orcid.org/0000-0001-8407-3642
Maggie C WalterFriedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, LMU Munich.ORCID https://orcid.org/0000-0002-7611-4827
Teresa NeuhannMGZ-Medical Genetics Center, Munich.
Benedikt SchoserFriedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, LMU Munich.ORCID https://orcid.org/0000-0002-2757-8131
Elke Holinski-FederMGZ-Medical Genetics Center, Munich.ORCID https://orcid.org/0000-0002-5172-2818
Angela AbichtMGZ-Medical Genetics Center, Munich.ORCID https://orcid.org/0000-0002-7965-9144

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: Myotonic dystrophy type 2 (DM2) is a multisystemic repeat disorder caused by the expansion of an unstable CCTG tetranucleotide repeat in the noncoding region of the Methods: Our study reevaluated 80 patients (cohort 1) with clinical suspicion of DM2 but homozygous negative results using the standard diagnostic repeat-primed PCR (RP-PCR). Reanalysis was performed using a second RP-PCR that amplifies the repeat from the opposite direction. Individual samples were further analyzed by Oxford Nanopore Technology long-read sequencing, Sanger sequencing, and another RP-PCR. In addition, repeat expansions were further characterized in 168 patients with confirmed DM2 (cohort 2). Results: We identified 5 of the 80 patients (cohort 1) with expanded repeats in Discussion: Our study revealed the presence of an additional repeat (TCTG)

Identifiers

PMID39703464
PMCPMC11658809

What OpenQuestion holds

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Registered trials

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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.