Reply: A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy.

Emil Ylikallio, Rosa Woldegebriel, Henna Tyynismaa

Open access · bronzeAbstract readLetterComment

In one paragraph

Article in Brain : a journal of neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it

0cells of the map it votes in

4citing papers in PubMed

0.3field-weighted citation impact, top 48% 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

4 citing papers in PubMed, 4 citations in OpenAlex.

Multimodal neuroimaging and electrophysiological signatures in amnestic mild cognitive impairment with different amyloid-β deposition status: correlations with cognitive function and diagnostic value.Frontiers in aging neuroscience · 2026
Article
Identification of biallelic mutations inFrontiers in genetics · 2024
Article
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.Human molecular genetics · 2022
Article
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.Human molecular genetics · 2020
Article

4 · The record

Corrections and comments

Comment on
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.2017
Comment on
A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy.2018

5 · Who and what money

Authors and funding

3 authors at 2 institutions in 1 country.

Emil YlikallioResearch Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.

Rosa WoldegebrielResearch Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.

Henna TyynismaaResearch Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.

University of Helsinki · FIHelsinki University Hospital · FI

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 DiseaseIntellectual DisabilityAcetyltransferasesHumansIntracellular Signaling Peptides and ProteinsMutationAcetyltransferasesIntracellular Signaling Peptides and ProteinsMCM3AP protein, human

Identifiers

PMID29982292

DOI10.1093/brain/awy185

OpenAlexW2889297627

What OpenQuestion holds

Textmetadata

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.