Evidence map›Paper›PMID 39164335›Full record

ArticleScientific reports2024

Brain of miyoshi myopathy/dysferlinopathy patients presents with structural and metabolic anomalies.

Petra Hnilicova, Marian Grendar, Monika Turcanova Koprusakova, Alzbeta Trancikova Kralova, Jana Harsanyiova, Martin Krssak, Ivica Just, Nadezda Misovicova, Martina Hikkelova, Jan Grossmann and 7 more

Abstract read
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In one paragraph

Article in Scientific reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

17 authors.

Petra HnilicovaJessenius Faculty of Medicine in Martin, Biomedical Centre Martin, Comenius University in Bratislava, Mala Hora 4D, 03601, Martin, Slovakia.
Marian GrendarJessenius Faculty of Medicine in Martin, Biomedical Centre Martin, Comenius University in Bratislava, Mala Hora 4D, 03601, Martin, Slovakia.
Monika Turcanova KoprusakovaClinic of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Kollarova 2, 03601, Martin, Slovakia.
Alzbeta Trancikova KralovaJessenius Faculty of Medicine in Martin, Biomedical Centre Martin, Comenius University in Bratislava, Mala Hora 4D, 03601, Martin, Slovakia.
Jana HarsanyiovaJessenius Faculty of Medicine in Martin, Biomedical Centre Martin, Comenius University in Bratislava, Mala Hora 4D, 03601, Martin, Slovakia.
Martin KrssakDepartment of Biomedical Imaging and Image-Guided Therapy, High-Field MR Center, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria.
Ivica JustDepartment of Internal Medicine III, Division of Endocrinology and Metabolism, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria.
Nadezda MisovicovaM-Genetik s.r.o., P. Mudrona 504/7, 03601, Martin, Slovakia.
Martina HikkelovaProgenet s.r.o., Strecnianska 13, 85105, Bratislava, Slovakia.
Jan GrossmannClinic of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Kollarova 2, 03601, Martin, Slovakia.
Peter SpalekCenter for Neuromuscular Disease, Clinic of Neurology, University Hospital Bratislava, Slovak Medical University in Bratislava, Pazitkova 4, 83303, Bratislava, Slovakia.
Iveta MeciarovaDepartment of Pathology, Unilabs Slovensko Patologia s.r.o., Ruzinovska 6, 82606, Bratislava, Slovakia.
Egon KurcaClinic of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Kollarova 2, 03601, Martin, Slovakia.
Norbert ZilkaInstitute of Neuroimmunology, Slovak Academy of Sciences, Dubravska Cesta 5779/9, 84510, Bratislava, Slovakia.
Kamil ZelenakClinic of Radiology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Kollarova 2, 03601, Martin, Slovakia.
Wolfgang BognerDepartment of Biomedical Imaging and Image-Guided Therapy, High-Field MR Center, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria.
Martin KolisekJessenius Faculty of Medicine in Martin, Biomedical Centre Martin, Comenius University in Bratislava, Mala Hora 4D, 03601, Martin, Slovakia. martin.kolisek@uniba.sk.ORCID 0000-0001-8962-4511

Funding

Agentúra na Podporu Výskumu a Vývoja APVV-19-0222Agentúra na Podporu Výskumu a Vývoja APVV-SK-AT-20-0010Austrian Federal Ministry of Education, Science and Research WTZ Mobility SK11-2021
6 · The paper itself

Abstract

Miyoshi myopathy/dysferlinopathy (MMD) is a rare muscle disease caused by DYSF gene mutations. Apart from skeletal muscles, DYSF is also expressed in the brain. However, the impact of MMD-causing DYSF variants on brain structure and function remains unexplored. To investigate this, we utilized magnetic resonance (MR) modalities (MR volumetry and

Indexed as

BrainMagnesiumAdolescentAdultChildDistal MyopathiesDysferlinEnergy MetabolismFemaleHumansMagnetic Resonance ImagingMagnetic Resonance SpectroscopyMaleMuscular AtrophyMuscular Dystrophies, Limb-GirdleMutationDysferlinDYSF protein, humanMagnesiumBrain volume asymmetryDysferlinInferior lateral ventriclesMagnesiumMagnetic resonanceMiyoshi myopathy/dysferlinopathy

Identifiers

PMID39164335
PMCPMC11336102

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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 Socratic graph.