Evidence map›Paper›PMID 38978535›Full record

ArticleBiomedical reports2024

First family with Perry syndrome from Mexico.

Leonardo Flores-Lagunes, Luis Del Pozo-Yauner, Karol Carrillo-Sánchez, Carolina Molina-Garay, Marco Jiménez-Olivares, Joaquin Garcia-Solorio, Ulises Rodríguez Corona, Guillermo A Herrera, Edgar Ricardez-Marcial, Carmen Alaez-Verson

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Biomedical reports, 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
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.

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.

Leonardo Flores-LagunesLaboratory of Genomic Diagnostics, National Institute of Genomic Medicine, Mexico City 14610, Mexico.
Luis Del Pozo-YaunerFrederick P. Whiddon College of Medicine, University of South Alabama, Mobile, Alabama 36617, USA.
Karol Carrillo-SánchezLaboratory of Genomic Diagnostics, National Institute of Genomic Medicine, Mexico City 14610, Mexico.
Carolina Molina-GarayLaboratory of Genomic Diagnostics, National Institute of Genomic Medicine, Mexico City 14610, Mexico.
Marco Jiménez-OlivaresLaboratory of Genomic Diagnostics, National Institute of Genomic Medicine, Mexico City 14610, Mexico.
Joaquin Garcia-SolorioLaboratory of Genomic Diagnostics, National Institute of Genomic Medicine, Mexico City 14610, Mexico.
Ulises Rodríguez CoronaMontreal Clinical Research Institute Ribonucleoprotein Biochemistry Research Unit, Montréal, Quebec H2W1R7, Canada.
Guillermo A HerreraFrederick P. Whiddon College of Medicine, University of South Alabama, Mobile, Alabama 36617, USA.
Edgar Ricardez-MarcialDepartment of Medical Genetics, La Raza National Medical Center, Mexican Social Security Institute, Mexico City 02990, Mexico.
Carmen Alaez-VersonLaboratory of Genomic Diagnostics, National Institute of Genomic Medicine, Mexico City 14610, Mexico.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Perry syndrome (PS) is a rare autosomal dominant disease characterized by parkinsonism, central hypoventilation, weight loss and depression and is caused by pathogenic mutations in the dynactin subunit 1 (

Indexed as

DCTN1in silico analysisparkinsonismpathogenic variantPerry syndrome

Identifiers

PMID38978535
PMCPMC11229396

What OpenQuestion holds

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Registered trials

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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.