Evidence map›Paper›PMID 39967429›Full record

ArticleJournal of neuromuscular diseases2024

Taking on the Titin: Muscle imaging as a diagnostic marker of biallelic

L H Hayes, S B Neuhaus, S Donkervoort, P Mohassel, A R Foley, J Dastgir, D Bharucha-Goebel, M E Leach, C Vuillerot, S T Iannaccone and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of neuromuscular diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

13 authors.

L H HayesNeuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-0237-1978
S B NeuhausNeuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.
S DonkervoortNeuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.
P MohasselNeuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0001-5313-9514
A R FoleyNeuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0003-2168-1119
J DastgirNeuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.
D Bharucha-GoebelNeuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.
M E LeachNeuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.ORCID 0009-0007-5599-3512
C VuillerotHospices Civils de Lyon, Hôpital Femme Mère Enfant, Paediatric Physical Medicine and Rehabilitation Department, NeuroMyogène Institute, Lyon University, Lyon, France.
S T IannacconeUT Southwestern Medical Center Dallas, Dallas, TX, USA.
C M GrosmannDepartments of Neurosciences and Pediatrics, School of Medicine, University of California, San Diego, Rady Children's Hospital, San Diego, CA, USA.
A H BeggsDivision of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
C G BönnemannNeuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe accurate diagnosis of titin-related myopathies (

objectiveTo illustrate the pattern of muscle involvement found by muscle imaging in patients with

methodsWe reviewed the clinical and imaging data of patients with

resultsEleven patients with

conclusionsHere we find that despite considerable complexity, the pattern of muscle involvement on MRI and ultrasound may aid in the confirmation of

Indexed as

ConnectinMuscle, SkeletalMuscular DiseasesAdolescentAdultFemaleHumansMagnetic Resonance ImagingMaleMiddle AgedUltrasonographyYoung AdultConnectinTTN protein, humancongenital myopathymuscle imagingtitinopathy

Identifiers

PMID39967429
PMCPMC13108000

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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.