Evidence map›Paper›PMID 41018230›Full record

ArticleIbrain2025

Double gene mutations of LRSAM1 and REEP1 and a new REEP1 mutation site found in a patient with amyotrophic lateral sclerosis with subjective paresthesia: A case report.

Ji-Yao Qin, Zun-Lin Zhou, Yuan-Qing Zhou, Ya Chen, Xiao-Yan Yang, Hai-Qing Zhang, Zu-Cai Xu

Abstract read
In one paragraph

Article in Ibrain, 2025. 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

7 authors.

Ji-Yao QinDepartment of Neurology Affiliated Hospital of Zunyi Medical University Zunyi Guizhou China.
Zun-Lin ZhouDepartment of Neurology Affiliated Hospital of Zunyi Medical University Zunyi Guizhou China.
Yuan-Qing ZhouDepartment of Neurology Affiliated Hospital of Zunyi Medical University Zunyi Guizhou China.
Ya ChenDepartment of Neurology Affiliated Hospital of Zunyi Medical University Zunyi Guizhou China.ORCID 0000-0002-9641-4536
Xiao-Yan YangDepartment of Neurology Affiliated Hospital of Zunyi Medical University Zunyi Guizhou China.ORCID 0000-0002-3833-2460
Hai-Qing ZhangDepartment of Neurology Affiliated Hospital of Zunyi Medical University Zunyi Guizhou China.ORCID 0000-0003-3935-7683
Zu-Cai XuDepartment of Neurology Affiliated Hospital of Zunyi Medical University Zunyi Guizhou China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by selective degeneration of upper and lower motor neurons. Although dyskinesia is the most prominent clinical manifestation of ALS, with an in-depth understanding of disease pathogenesis and clinical detection, more and more ALS patients are found to have nonmotor symptoms, such as sensory impairment. Genetic testing technology has developed rapidly in recent years. New genes have been proven to be involved in the pathogenesis of ALS. However, according to the existing research evidence, no literature has reported that patients with ALS have leucine-rich repeats and sterility α mutations in motif 1 (

Indexed as

amyotrophic lateral sclerosishereditary spastic paraplegia (SPG31)LRSAM1peroneal muscular atrophy type 2preceptor expression enhancing protein 1

Identifiers

PMID41018230
PMCPMC12465234

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.