Evidence map›Paper›PMID 38709391›Full record

SynthesisMolecular neurobiology2024

Advances of NOTCH2NLC Repeat Expansions and Associated Diseases: A Bibliometric and Meta-analysis.

Yangguang Lu, Yiqun Chen, Jiaqi Huang, Zihan Jiang, Yaoying Ge, Ruotong Yao, Jinxiu Zhang, Shangze Geng, Feng Chen, Qiaoqiao Jin and 2 more

Abstract readMeta-Analysis
PubMed Publisher
In one paragraph

Synthesis in Molecular neurobiology, 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

12 authors.

Yangguang LuThe First School of Medicine, School of Information and Engineering, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China.
Yiqun ChenThe First School of Medicine, School of Information and Engineering, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China.
Jiaqi HuangThe First School of Medicine, School of Information and Engineering, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China.
Zihan JiangThe Second School of Medicine, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China.
Yaoying GeThe First School of Medicine, School of Information and Engineering, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China.
Ruotong YaoThe First School of Medicine, School of Information and Engineering, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China.
Jinxiu ZhangThe Second School of Medicine, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China.
Shangze GengThe First School of Medicine, School of Information and Engineering, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China.
Feng ChenThe Second School of Medicine, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China.
Qiaoqiao JinThe First School of Medicine, School of Information and Engineering, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China.
Guangyong ChenDepartment of Neurology, The Third Affiliated Hospital of Wenzhou Medical University, Wenzhou, 325000, Zhejiang, China. gychen@wmu.edu.cn.
Dehao YangDepartment of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310009, Zhejiang, China. dehao_yang@zju.edu.cn.

Funding

Fundamental Research Funds for the Central Universities 226-2023-0067National Natural Science Foundation of China 82302081Natural Science Foundation of Zhejiang Province LQ24H090003
6 · The paper itself

Abstract

The unclear pathogenic mechanisms of neurodegenerative disorders stemming from NOTCH2NLC GGC repeat expansions drive focused research. Thus, a bibliometric and meta-analysis was conducted to uncover research trends and positivity rates in NOTCH2NLC. We conducted systematic searches in the Web of Science, PubMed, Embase, and Scopus databases for studies related to NOTCH2NLC up until August 2, 2023. Information regarding countries, institutions, authors, journals, and keywords of studies included in the Web of Science was analyzed and visualized. The positivity rates of NOTCH2NLC GGC repeat expansions across all screened patients and patients' families were pooled under the random-effects model. Publication bias and its impact were examined using funnel plots, Egger's linear regression, and trim-and-fill method. The bibliometric analysis, revealing pronounced publication growth, comprised 119 studies, which came from China and Japan particularly. "Neuronal intranuclear inclusion disease" emerged as a frequently used keyword. The meta-analysis comprised 36 studies, indicating global positivity rates of 1.79% (95% CI, 0.75-3.17) for all patients and 2.00% (95% CI, 0.26-4.78) for patients' families. Subgroup analyses based on region and phenotype suggested the highest NOTCH2NLC positivity rates in Taiwan population (5.42%, 95% CI 0.08-16.89) and in leukoencephalopathy-dominant patients (8.25%, 95% CI, 3.01-15.60). Sensitivity analysis affirmed the robustness of results. In conclusion, NOTCH2NLC GGC repeat expansions exhibit rare globally, primarily in East Asia, and leukoencephalopathy-dominant patients, emphasizing regional and phenotypic distinctions. Emerging focal points in NOTCH2NLC researches underscore the need for collaborative exploration.

Indexed as

BibliometricsHumansIntercellular Signaling Peptides and ProteinsNerve Tissue ProteinsNeurodegenerative DiseasesTrinucleotide Repeat ExpansionIntercellular Signaling Peptides and ProteinsNerve Tissue ProteinsNOTCH2NLC protein, humanBibliometricsDNA repeat expansionMeta-analysisNeuronal intranuclear inclusion diseaseNOTCH2NLC

Identifiers

PMID38709391

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.