Evidence map›Paper›PMID 34632054›Full record

ArticleNeurology. Genetics2021

Phenotype of Patients With Charcot-Marie-Tooth With the p.His123Arg Mutation in

Maria Lehtilahti, Mika Kallio, Kari Majamaa, Mikko Kärppä

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

Article in Neurology. Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.4field-weighted citation impact, top 46% 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

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Homozygous Mutations inDNA and cell biology · 2023
    Article
  2. Article
  3. 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

4 authors at 1 institution in 1 country.

Maria LehtilahtiMedical Research Center Oulu, University of Oulu and Oulu University Hospital (M.L., K.M., M.Kärppä); Research Unit of Clinical Neuroscience, University of Oulu (M.L., K.M., M.Kärppä); Department of Neurology, Oulu University Hospital (M.L., K.M., M.Kärppä); Department of Clinical Neurophysiology, Medical Research Center Oulu, Oulu University Hospital (M.Kallio); Research Unit of Medical Imaging, Physics and Technology, Faculty of Medicine, University of Oulu (M.Kallio), Oulu, Finland.
Mika KallioMedical Research Center Oulu, University of Oulu and Oulu University Hospital (M.L., K.M., M.Kärppä); Research Unit of Clinical Neuroscience, University of Oulu (M.L., K.M., M.Kärppä); Department of Neurology, Oulu University Hospital (M.L., K.M., M.Kärppä); Department of Clinical Neurophysiology, Medical Research Center Oulu, Oulu University Hospital (M.Kallio); Research Unit of Medical Imaging, Physics and Technology, Faculty of Medicine, University of Oulu (M.Kallio), Oulu, Finland.
Kari MajamaaMedical Research Center Oulu, University of Oulu and Oulu University Hospital (M.L., K.M., M.Kärppä); Research Unit of Clinical Neuroscience, University of Oulu (M.L., K.M., M.Kärppä); Department of Neurology, Oulu University Hospital (M.L., K.M., M.Kärppä); Department of Clinical Neurophysiology, Medical Research Center Oulu, Oulu University Hospital (M.Kallio); Research Unit of Medical Imaging, Physics and Technology, Faculty of Medicine, University of Oulu (M.Kallio), Oulu, Finland.
Mikko KärppäMedical Research Center Oulu, University of Oulu and Oulu University Hospital (M.L., K.M., M.Kärppä); Research Unit of Clinical Neuroscience, University of Oulu (M.L., K.M., M.Kärppä); Department of Neurology, Oulu University Hospital (M.L., K.M., M.Kärppä); Department of Clinical Neurophysiology, Medical Research Center Oulu, Oulu University Hospital (M.Kallio); Research Unit of Medical Imaging, Physics and Technology, Faculty of Medicine, University of Oulu (M.Kallio), Oulu, Finland.
Oulu University Hospital · FI

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND AND

objectivesMutations in the ganglioside-induced differentiation-associated protein 1 (

methodsTwenty-three Finnish patients were recruited from a population-based cohort and through family investigation. Each patient was examined clinically and electrophysiologically. The Neuropathy Symptom Score and the Neuropathy Disability Score (NDS) were used in clinical evaluation.

resultsThe median age at onset of symptoms was 17 years among patients with p.His123Arg in DISCUSSION: We found that CMT in patients with p.His123Arg in

Identifiers

PMID34632054
PMCPMC8495501
OpenAlexW3202381489

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.