Evidence map›Paper›PMID 38235041›Full record

ArticleNeurology. Genetics2023

PMPCA-Related Encephalopathy: Novel Variants, Phenotype Extension, and Mitochondrial Morphology.

Vibhuti Rambani, Miriam Kolnikova, Michal Cagalinec, Martina Skopkova, Daniela Gasperikova

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

Article in Neurology. Genetics, 2023. 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
0.3field-weighted citation impact, top 35% 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, 2 citations in OpenAlex.

  1. Expanding the Phenotypic Variability of PMPCA-Related Ataxia.Movement disorders clinical practice · 2024
    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

5 authors at 1 institution in 1 country.

Vibhuti RambaniFrom the Institute of Experimental Endocrinology (V.R., M.C., M.S., D.G.), Biomedical Reserach Center, Slovak Academy of Sciences; Medical Faculty of Comenius University and National Institute of Childern's Diseases (M.K.); Centre of Excellence for Advanced Material Application (M.C.), Slovak Academy of Sciences, Bratislava, Slovakia.ORCID https://orcid.org/0009-0008-3647-3965
Miriam KolnikovaFrom the Institute of Experimental Endocrinology (V.R., M.C., M.S., D.G.), Biomedical Reserach Center, Slovak Academy of Sciences; Medical Faculty of Comenius University and National Institute of Childern's Diseases (M.K.); Centre of Excellence for Advanced Material Application (M.C.), Slovak Academy of Sciences, Bratislava, Slovakia.
Michal CagalinecFrom the Institute of Experimental Endocrinology (V.R., M.C., M.S., D.G.), Biomedical Reserach Center, Slovak Academy of Sciences; Medical Faculty of Comenius University and National Institute of Childern's Diseases (M.K.); Centre of Excellence for Advanced Material Application (M.C.), Slovak Academy of Sciences, Bratislava, Slovakia.
Martina SkopkovaFrom the Institute of Experimental Endocrinology (V.R., M.C., M.S., D.G.), Biomedical Reserach Center, Slovak Academy of Sciences; Medical Faculty of Comenius University and National Institute of Childern's Diseases (M.K.); Centre of Excellence for Advanced Material Application (M.C.), Slovak Academy of Sciences, Bratislava, Slovakia.ORCID https://orcid.org/0000-0001-7927-9777
Daniela GasperikovaFrom the Institute of Experimental Endocrinology (V.R., M.C., M.S., D.G.), Biomedical Reserach Center, Slovak Academy of Sciences; Medical Faculty of Comenius University and National Institute of Childern's Diseases (M.K.); Centre of Excellence for Advanced Material Application (M.C.), Slovak Academy of Sciences, Bratislava, Slovakia.ORCID https://orcid.org/0000-0002-5725-6424
Slovak Academy of Sciences · SK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: The Methods: The patient was diagnosed using whole exome sequencing. Skin fibroblasts were used for confirmation of α-MPP levels using western blot and mitochondrial morphology assessment of immunofluorescent confocal microscopy images. Results: Two novel compound heterozygous variants in the Discussion: The described case contributes to the number of patients with progressive

Identifiers

PMID38235041
PMCPMC10683851
OpenAlexW4388688022

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.