Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact, top 96% of its field
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
1 citing paper in PubMed, 0 citations in OpenAlex.
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 at 1 institution in 1 country.
Rasha El SherifFrom the Myo-Care Neuromuscular Center (R.E.S.), Myo-Care National Foundation, Cairo; School of Medicine (R.E.S.), New Giza University, Cairo, Egypt; Department of Neuromuscular Research (Y.S., S.N., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; and Department of Anatomy and Developmental Biology (T.A.), Graduate School of Medicine and Faculty of Medicine, The University of Kyoto, Japan.ORCID https://orcid.org/0000-0002-5285-2462
Yoshihiko SaitoFrom the Myo-Care Neuromuscular Center (R.E.S.), Myo-Care National Foundation, Cairo; School of Medicine (R.E.S.), New Giza University, Cairo, Egypt; Department of Neuromuscular Research (Y.S., S.N., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; and Department of Anatomy and Developmental Biology (T.A.), Graduate School of Medicine and Faculty of Medicine, The University of Kyoto, Japan.ORCID https://orcid.org/0000-0003-1643-4797
Tomonari AwayaFrom the Myo-Care Neuromuscular Center (R.E.S.), Myo-Care National Foundation, Cairo; School of Medicine (R.E.S.), New Giza University, Cairo, Egypt; Department of Neuromuscular Research (Y.S., S.N., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; and Department of Anatomy and Developmental Biology (T.A.), Graduate School of Medicine and Faculty of Medicine, The University of Kyoto, Japan.ORCID https://orcid.org/0000-0002-9004-3172
Satoru NoguchiFrom the Myo-Care Neuromuscular Center (R.E.S.), Myo-Care National Foundation, Cairo; School of Medicine (R.E.S.), New Giza University, Cairo, Egypt; Department of Neuromuscular Research (Y.S., S.N., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; and Department of Anatomy and Developmental Biology (T.A.), Graduate School of Medicine and Faculty of Medicine, The University of Kyoto, Japan.ORCID https://orcid.org/0000-0001-6165-3716
Ichizo NishinoFrom the Myo-Care Neuromuscular Center (R.E.S.), Myo-Care National Foundation, Cairo; School of Medicine (R.E.S.), New Giza University, Cairo, Egypt; Department of Neuromuscular Research (Y.S., S.N., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; and Department of Anatomy and Developmental Biology (T.A.), Graduate School of Medicine and Faculty of Medicine, The University of Kyoto, Japan.ORCID https://orcid.org/0000-0001-9452-112X
National Center of Neurology and Psychiatry · JP
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itself
Abstract
Objectives: Collagen VI-related myopathy spans a clinical continuum from severe Ullrich congenital muscular dystrophy to milder Bethlem myopathy, caused by genetic variants in Methods: We performed clinicopathologic diagnosis and analysis using whole-genome and RNA sequencing. Results: We report Ullrich congenital muscular dystrophy caused by a homozygous deletion, c.*198_*466del, which includes a polyadenylation signal in the canonical last exon of the Discussion: Our case provides a valuable example of the mechanism of alternative splicing switches for polyadenylation selection.
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.
Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in · full record | OpenQuestion