Evidence map›Paper›PMID 38143368›Full record

ArticleJournal of neuromuscular diseases2024

'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'.

Ivana Frongia, Carlotta Spagnoli, Susanna Rizzi, Daniele Frattini, Alberta Leon, Stefano Giuseppe Caraffi, Marzia Pollazzon, Livia Garavelli, Francesco Pisani, Carlo Fusco

Open access · bronzeAbstract readLetter
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. 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, top 50% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

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

10 authors at 3 institutions in 1 country.

Ivana FrongiaStruttura Complessa di Neuropsichiatria Infantile, Dipartimento Materno-Infantile, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Carlotta SpagnoliStruttura Complessa di Neuropsichiatria Infantile, Dipartimento Materno-Infantile, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Susanna RizziStruttura Complessa di Neuropsichiatria Infantile, Dipartimento Materno-Infantile, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Daniele FrattiniStruttura Complessa di Neuropsichiatria Infantile, Dipartimento Materno-Infantile, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Alberta LeonResearch & Innovation, Padova, Italy.
Stefano Giuseppe CaraffiStruttura Complessa di Genetica Medica, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Marzia PollazzonStruttura Complessa di Genetica Medica, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Livia GaravelliStruttura Complessa di Genetica Medica, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Francesco PisaniChild Neuropsychiatric Unit, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
Carlo FuscoStruttura Complessa di Neuropsichiatria Infantile, Dipartimento Materno-Infantile, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Azienda Sanitaria Unità Locale di Reggio Emilia · ITInnova (Italy) · ITSapienza University of Rome · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Activating Signal Cointegrator 1 complex (ASC-1 complex) is a ribonucleoprotein tetramer participating in transcriptional coactivation and RNA processing, consisting of four subunits: ASCC1-ASCC3 and ASC-1. Pathogenic variants in the TRIP4 and ASCC1 genes, encoding the ASC-1 and ASCC1 subunits, were recently described in congenital myopathic conditions without signs of motor neuron involvement, and Spinal Muscular Atrophy-like (SMA-like) phenotype with prenatal bone fractures. We present a novel pathogenic TRIP4 variant in two siblings with severe phenotype and mixed sensory-motor polyneuropathy. The reviewed phenotypic spectrum is broad, but sensory-motor polyneuropathy is so-far unreported. We thus expand ASC-1 related myopathy phenotype.

Indexed as

Muscular Atrophy, SpinalMuscular DiseasesPeripheral Nervous System DiseasesPolyneuropathiesCarrier ProteinsDNA HelicasesHumansPhenotypeTranscription FactorsASCC1 protein, humanASCC3 protein, humanCarrier ProteinsDNA HelicasesTranscription FactorsTRIP4 protein, humanASC-1hypotoniamyopathyneuropathyTRIP4

Identifiers

PMID38143368
PMCPMC10789366
OpenAlexW4389947199

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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 OpenQuestion graph.