Evidence map›Paper›PMID 40869966›Full record

ArticleGenes2025

Genotypic and Phenotypic Characterization of Axonal Charcot-Marie-Tooth Disease in Childhood: Identification of One Novel and Four Known Mutations.

Rojan İpek, Büşra Eser Çavdartepe, Sevcan Tuğ Bozdoğan, Erman Altunışık, Akçahan Akalın, Mahmut Yaman, Alper Akın, Sefer Kumandaş

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2025. 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

8 authors.

Rojan İpekDepartment of Pediatric Neurology, Dicle University, Diyarbakır 21280, Türkiye.ORCID 0000-0002-5636-0262
Büşra Eser ÇavdartepeDepartment of Medical Genetics, Konya City Hospital, Konya 42020, Türkiye.
Sevcan Tuğ BozdoğanDepartment of Medical Genetics, Çukurova University, Adana 01250, Türkiye.
Erman AltunışıkDepartment of Neurology, Adıyaman University Training and Research Hospital, Adıyaman 02040, Türkiye.
Akçahan AkalınDepartment of Pediatric Gentics, Diyarbakır Childrens Diseases Hospital, Diyarbakır 21100, Türkiye.ORCID 0000-0001-9770-284X
Mahmut YamanDepartment of Emergency Medicine, Dicle University, Diyarbakır 21280, Türkiye.
Alper AkınDepartment of Pediatric Cardiology, Dicle University, Diyarbakır 21280, Türkiye.ORCID 0000-0003-1587-9559
Sefer KumandaşDepartment of Pediatric Neurology, Pediatric Neurology Clinic, Kayseri 38040, Türkiye.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Charcot-Marie-Tooth DiseaseDNA-Binding ProteinsMutationTranscription FactorsAdolescentAxonsChildChild, PreschoolCytoplasmic DyneinsExome SequencingFemaleGenotypeHumansMalePhenotypeRetrospective StudiesCytoplasmic DyneinsDNA-Binding ProteinsDYNC1H1 protein, humanTranscription Factorsaxonal neuropathyCharcot–Marie–Tooth diseasegait disturbancegenetic mutationpediatric neurology

Identifiers

PMID40869966
PMCPMC12385308

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.