Evidence map›Paper›PMID 36241230›Full record

ArticleBeijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences2022

[Genetic distribution in Chinese patients with hereditary peripheral neuropathy].

X X Liu, X H Duan, S Zhang, A P Sun, Y S Zhang, D S Fan

Open access · greenAbstract read
PubMed Full text at PMC
In one paragraph

Article in Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences, 2022. 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 87% 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

6 authors at 3 institutions in 1 country.

X X LiuDepartment of Neurology, Peking University Third Hospital, Beijing 100191, China.
X H DuanDepartment of Neurology, China-Japan Friendship Hospital, Beijing 100029, China.
S ZhangDepartment of Neurology, Peking University Third Hospital, Beijing 100191, China.
A P SunDepartment of Neurology, Peking University Third Hospital, Beijing 100191, China.
Y S ZhangDepartment of Neurology, Peking University Third Hospital, Beijing 100191, China.
D S FanDepartment of Neurology, Peking University Third Hospital, Beijing 100191, China.
Peking University · CNPeking University Third Hospital · CNChina-Japan Friendship Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo analyze the distribution characteristics of hereditary peripheral neuropathy (HPN) pathogenic genes in Chinese Han population, and to explore the potential pathogenesis and treatment prospects of HPN and related diseases.

methodsSix hundred and fifty-six index patients with HPN were enrolled in Peking University Third Hospital and China-Japan Friendship Hospital from January 2007 to May 2022. The

resultsCharcot-Marie-Tooth (CMT) accounted for 74.3% (495/666) of the patients with HPN, of whom 69.1% (342/495) were genetically confirmed. The most common genes of CMT were

conclusionCMT and HMN are the most common diseases of HPN. There is a large overlap between HMN and motor-CMT2 pathogenic genes, and some HMN pathogenic genes overlap with amyotrophic lateral sclerosis, hereditary spastic hemiplegia and spinal muscular atrophy, suggesting that there may be a potential common pathogenic pathway between different diseases.

Indexed as

Amyotrophic Lateral SclerosisCharcot-Marie-Tooth DiseaseMuscular Atrophy, SpinalDNA-Binding ProteinsDNA HelicasesFlavoproteinsHSP40 Heat-Shock ProteinsHumansIntracellular Signaling Peptides and ProteinsKinesinsLigasesMolecular ChaperonesMultifunctional EnzymesMutationPhosphoric Monoester HydrolasesProtein Serine-Threonine KinasesDNA-Binding ProteinsDNA HelicasesDNAJB2 protein, humanFIG4 protein, humanFlavoproteinsHSP40 Heat-Shock ProteinsIGHMBP2 protein, humanIntracellular Signaling Peptides and ProteinsKIF5A protein, humanKinesinsLigasesMolecular ChaperonesMORC2 protein, humanMultifunctional EnzymesPhosphoric Monoester HydrolasesProtein Serine-Threonine KinasesRNA HelicasesRNA, TransferSETX protein, humanTranscription FactorsVRK1 protein, humanChinaGenesHereditary sensory and motor neuropathy

Identifiers

PMID36241230
PMCPMC9568373
OpenAlexW4306316500

What OpenQuestion holds

Textmetadata
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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.