Evidence map›Paper›PMID 39086442›Full record

ArticleJournal of pediatric genetics2024

Pontocerebellar Hypoplasia Type 9: A New Case with a Novel Mutation and Review of Literature.

Hanadi A Abdelrahman, Nadia Akawi, Aisha M Al-Shamsi, Lihadh Al-Gazali, Bassam R Ali

Abstract read
In one paragraph

Article in Journal of pediatric genetics, 2024. 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
–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

1 citing paper in PubMed.

  1. 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.

Hanadi A AbdelrahmanDepartment of Genetics and Genomics, College of Medicine and Heath Sciences, United Arab Emirates University Al-Ain, United Arab Emirates.
Nadia AkawiDepartment of Genetics and Genomics, College of Medicine and Heath Sciences, United Arab Emirates University Al-Ain, United Arab Emirates.ORCID 0000-0001-6311-7028
Aisha M Al-ShamsiDepartment of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.
Lihadh Al-GazaliDepartment of Pediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.
Bassam R AliDepartment of Genetics and Genomics, College of Medicine and Heath Sciences, United Arab Emirates University Al-Ain, United Arab Emirates.ORCID 0000-0003-1306-6618

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pontocerebellar hypoplasia type 9 (PCH-9) is a very rare autosomal recessive neurodegenerative disorder. Affected infants present early with severe developmental delay, spasticity, with the unique magnetic resonance imaging picture of thin corpus callosum, atrophied pons, and cerebellum. It is caused by loss of function mutations in the

Indexed as

adenosine monophosphate deaminase 2corpus callosum agenesispontocerebellar hypoplasia

Identifiers

PMID39086442
PMCPMC11288706

What OpenQuestion holds

Textmetadata
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.