Evidence map›Paper›PMID 37139068›Full record

ArticleFrontiers in neurology2023

Case report: Novel compound heterozygous variants in the

Siqi Dong, Ya Tuo, Zihan Qi, Yuanfeng Zhang, Xiaoni Liu, Ping Huang, Xiangjun Chen

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in neurology, 2023. 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, top 93% of its field
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, 0 citations in OpenAlex.

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

7 authors at 5 institutions in 1 country.

Siqi Dong *Department of Neurology, Huashan Hospital and Institute of Neurology, Fudan University, Shanghai, China.
Ya Tuo *Department of Biochemistry and Physiology, Shanghai University of Medicine and Health Sciences, Shanghai, China.
Zihan QiDepartment of Neurology, Huashan Hospital and Institute of Neurology, Fudan University, Shanghai, China.
Yuanfeng ZhangDepartment of Neurology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.
Xiaoni LiuDepartment of Neurology, Huashan Hospital and Institute of Neurology, Fudan University, Shanghai, China.
Ping HuangDepartment of Forensic Pathology, Academy of Forensic Science, Shanghai, China.
Xiangjun ChenDepartment of Neurology, Huashan Hospital and Institute of Neurology, Fudan University, Shanghai, China.
Fudan University · CNHuashan Hospital · CNInstitute of Forensic Science · CNShanghai Children's Hospital · CNShanghai University of Medicine and Health Sciences · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The PANK2 gene, which encodes mitochondrial pantothenate kinase 2 protein, is the disease-causing gene for pantothenate kinase-associated neurodegeneration (PKAN). We report a case of atypical PKAN with autism-like symptoms presenting with speech difficulties, psychiatric symptoms, and mild developmental retardation. Magnetic resonance imaging (MRI) of the brain showed the typical "eye-of-the-tiger" sign. Whole-exon sequencing revealed

Indexed as

atypical PKANautism spectral disorder (ASD)case reportPANK2 mutationpantothenate kinase-associated neurodegeneration (PKAN)

Identifiers

PMID37139068
PMCPMC10149840
OpenAlexW4366209197

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.