Evidence map›Paper›PMID 35812165›Full record

ArticleNeurology. Genetics2022

Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation.

Arianna Manini, Daniele Velardo, Patrizia Ciscato, Claudia Cinnante, Maurizio Moggio, Giacomo Comi, Stefania Corti, Dario Ronchi

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2022. 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
0.2field-weighted citation impact, top 52% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. Review
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

8 authors at 1 institution in 1 country.

Arianna ManiniDino Ferrari Center (A.M., G.C., S.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan; Neuromuscular and Rare Diseases Unit (D.V., P.C., M.M., G.C.), Department of Neuroscience, Healthcare Professionals (P.C.), Neuroradiology Unit (C.C.), and Neurology Unit (S.C., D.R.), Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.ORCID https://orcid.org/0000-0003-3352-5228
Daniele VelardoDino Ferrari Center (A.M., G.C., S.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan; Neuromuscular and Rare Diseases Unit (D.V., P.C., M.M., G.C.), Department of Neuroscience, Healthcare Professionals (P.C.), Neuroradiology Unit (C.C.), and Neurology Unit (S.C., D.R.), Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.ORCID https://orcid.org/0000-0003-1837-2788
Patrizia CiscatoDino Ferrari Center (A.M., G.C., S.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan; Neuromuscular and Rare Diseases Unit (D.V., P.C., M.M., G.C.), Department of Neuroscience, Healthcare Professionals (P.C.), Neuroradiology Unit (C.C.), and Neurology Unit (S.C., D.R.), Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Claudia CinnanteDino Ferrari Center (A.M., G.C., S.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan; Neuromuscular and Rare Diseases Unit (D.V., P.C., M.M., G.C.), Department of Neuroscience, Healthcare Professionals (P.C.), Neuroradiology Unit (C.C.), and Neurology Unit (S.C., D.R.), Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Maurizio MoggioDino Ferrari Center (A.M., G.C., S.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan; Neuromuscular and Rare Diseases Unit (D.V., P.C., M.M., G.C.), Department of Neuroscience, Healthcare Professionals (P.C.), Neuroradiology Unit (C.C.), and Neurology Unit (S.C., D.R.), Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Giacomo ComiDino Ferrari Center (A.M., G.C., S.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan; Neuromuscular and Rare Diseases Unit (D.V., P.C., M.M., G.C.), Department of Neuroscience, Healthcare Professionals (P.C.), Neuroradiology Unit (C.C.), and Neurology Unit (S.C., D.R.), Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Stefania CortiDino Ferrari Center (A.M., G.C., S.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan; Neuromuscular and Rare Diseases Unit (D.V., P.C., M.M., G.C.), Department of Neuroscience, Healthcare Professionals (P.C.), Neuroradiology Unit (C.C.), and Neurology Unit (S.C., D.R.), Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Dario RonchiDino Ferrari Center (A.M., G.C., S.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan; Neuromuscular and Rare Diseases Unit (D.V., P.C., M.M., G.C.), Department of Neuroscience, Healthcare Professionals (P.C.), Neuroradiology Unit (C.C.), and Neurology Unit (S.C., D.R.), Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.ORCID https://orcid.org/0000-0002-6093-9816
Ospedale Maggiore · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: The c.254C>G (p.S85C) Methods: The proband underwent neurologic evaluation, muscular MRI of the lower limbs, neurophysiologic assessment, muscle biopsy, and spirometry. After excluding common acquired and genetic causes of sensorimotor polyneuropathy, a larger group of genes involved in inherited forms of neuropathy, distal myopathy, and motor neuron disorders were analyzed by next-generation sequencing targeted panels. Results: The patient, affected by progressive distal muscle weakness and hypotrophy, myalgias, dysphonia, dysphagia, respiratory impairment, and sensory abnormalities, harbored the heterozygous c.254C>G (p.S85C) Discussion: This finding extends the

Identifiers

PMID35812165
PMCPMC9258980
OpenAlexW4285021968

What OpenQuestion 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 OpenQuestion graph.