Evidence map›Paper›PMID 28969388›Full record

ArticleBrain : a journal of neurology2017

Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.

Mert Karakaya, Neda Mazaheri, Ipek Polat, Diana Bharucha-Goebel, Sandra Donkervoort, Reza Maroofian, Gholamreza Shariati, Irmgard Hoelker, Kristin Monaghan, Sara Winchester and 5 more

Open access · bronzeAbstract readLetterComment
PubMed Full text at PMC Publisher
In one paragraph

Article in Brain : a journal of neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.1field-weighted citation impact, top 27% 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

7 citing papers in PubMed, 17 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Identification of biallelic mutations inFrontiers in genetics · 2024
    Article
  5. Article
  6. Article
  7. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

15 authors at 8 institutions in 5 countries.

Mert KarakayaInstitute of Human Genetics, Center for Molecular Medicine Cologne, Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.
Neda MazaheriDepartment of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
Ipek PolatDokuz Eylül University, Department of Pediatric Neurology, Izmir, Turkey.
Diana Bharucha-GoebelNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, USA.
Sandra DonkervoortNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, USA.
Reza MaroofianGenetics and Molecular Cell Sciences Research Centre, St George's University of London, Cranmer, 16 Terrace, London, UK.
Gholamreza ShariatiNarges Medical Genetics and Prenatal Diagnosis Laboratory, East Mihan Ave., Kianpars, Ahvaz, Iran.
Irmgard HoelkerInstitute of Human Genetics, Center for Molecular Medicine Cologne, Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.
Kristin MonaghanGeneDx, Gaithersburg, MD, USA.
Sara WinchesterChild Neurology Center of Northwest Florida, Pensacola, FL, USA.
Robert ZoriDivision of Genetics and Metabolism, University of Florida, Gainesville, FL, USA.
Hamid GalehdariDepartment of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
Carsten G BönnemannNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, USA.
Uluc YisDokuz Eylül University, Department of Pediatric Neurology, Izmir, Turkey.
Brunhilde WirthInstitute of Human Genetics, Center for Molecular Medicine Cologne, Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.
University of Cologne · DEDokuz Eylül University · TRNational Institute of Neurological Disorders and Stroke · USShahid Chamran University of Ahvaz · IRAhvaz Jundishapur University of Medical Sciences · IRChildren's National · USSt George's, University of London · GBUniversity of Florida · US

Funding

Molecular and Clinical Manifestations of Matrix and Aggregate MyopathiesZIANS003129 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI BÖNNEMANN, CARSTEN · 2011 to 2025
$52.8M
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

PMID28969388
PMCPMC6272822
OpenAlexW2755714854

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.