Evidence map›Paper›PMID 39399217›Full record

ArticleFrontiers in genetics2024

A case of adrenomyeloneuropathy caused by a novel point mutation in the

Xiaoxue Shi, Xuelin Qi, Jinhua Zheng, Jianjun Ma, Dongsheng Li

Abstract read
In one paragraph

Article in Frontiers in genetics, 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

5 authors.

Xiaoxue Shi *Department of Neurology, Henan Provincial People's Hospital, Zhengzhou, China.
Xuelin Qi *Department of Neurology, Henan Provincial People's Hospital, Zhengzhou, China.
Jinhua ZhengDepartment of Neurology, Henan Provincial People's Hospital, Zhengzhou, China.
Jianjun MaDepartment of Neurology, Henan Provincial People's Hospital, Zhengzhou, China.
Dongsheng LiDepartment of Neurology, Henan Provincial People's Hospital, Zhengzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Adrenoleukodystrophy is a rare neurogenetic disease, and adrenomyeloneuropathy is the most common phenotype in adults. The clinical data of a patient with adrenoleukodystrophy and spinal-peripheral neuropathy caused by a novel point mutation in exon 4 of the

Indexed as

ABCD1 geneadrenomyeloneuropathy (AMN)functional verificationgenetic analysispoint mutation

Identifiers

PMID39399217
PMCPMC11466755

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.