Evidence map›Paper›PMID 31680794›Full record

ArticleFrontiers in neuroscience2019

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to

Haicui Wang, Ayşe Kaçar Bayram, Rosanne Sprute, Ozkan Ozdemir, Emily Cooper, Matthias Pergande, Stephanie Efthymiou, Ivana Nedic, Neda Mazaheri, Katharina Stumpfe and 17 more

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

Article in Frontiers in neuroscience, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.5field-weighted citation impact, top 39% 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

8 citing papers in PubMed, 13 citations in OpenAlex.

  1. Review
  2. Review
  3. Identification of a Novel Homozygous Mutation inThe application of clinical genetics · 2024
    Article
  4. Article
  5. Article
  6. Expanding the Molecular Spectrum ofArchives of Iranian medicine · 2023
    Article
  7. Article
  8. Article
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

27 authors at 15 institutions in 6 countries.

Haicui WangDepartment of Pediatrics, University Hospital Cologne, Cologne, Germany.
Ayşe Kaçar BayramDepartment of Pediatric Neurology, University of Health Sciences, Kayseri City Hospital, Kayseri, Turkey.
Rosanne SpruteDepartment of Pediatrics, University Hospital Cologne, Cologne, Germany.
Ozkan OzdemirDepartment of Pediatrics, University Hospital Cologne, Cologne, Germany.
Emily CooperGenetics Research Centre, Molecular and Clinical Sciences Institute, St. George's, University of London, London, United Kingdom.
Matthias PergandeDepartment of Pediatrics, University Hospital Cologne, Cologne, Germany.
Stephanie EfthymiouDepartment of Neuromuscular Disorders, Institute of Neurology, University College London, London, United Kingdom.
Ivana NedicGenetics Research Centre, Molecular and Clinical Sciences Institute, St. George's, University of London, London, United Kingdom.
Neda MazaheriNarges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.
Katharina StumpfeDepartment of Pediatrics, University Hospital Cologne, Cologne, Germany.
Reza Azizi MalamiriPaediatric Neurology, Department of Paediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Gholamreza ShariatiNarges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.
Jawaher ZeighamiNarges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.
Nurettin BayramDepartment of Ophthalmology, University of Health Sciences, Kayseri City Hospital, Kayseri, Turkey.
Seyed Kianoosh NaghibzadehDepartment of Medicine, Azad University, Tehran, Iran.
Mohamad TajikDepartment of Neurology, Firoozgar General Hospital, University of Medical Sciences, Tehran, Iran.
Mehmet YaşarDepartment of Ear Nose and Throat, University of Health Sciences, Kayseri City Hospital, Kayseri, Turkey.
Ahmet Sami GüvenDepartment of Pediatric Neurology, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey.
Farah BibiInstitute of Biochemistry and Biotechnology, PMAS Arid Agriculture University, Rawalpindi, Pakistan.
Tipu SultanDepartment of Pediatric Neurology, Institute of Child Health, The Children's Hospital Lahore, Lahore, Pakistan.
Vincenzo SalpietroDepartment of Neuromuscular Disorders, Institute of Neurology, University College London, London, United Kingdom.
Henry HouldenDepartment of Neuromuscular Disorders, Institute of Neurology, University College London, London, United Kingdom.
Hüseyin PerDepartment of Pediatric Neurology, Erciyes University Medical School, Kayseri, Turkey.
Hamid GalehdariDepartment of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
Bita ShalbafanIran Social Security Organization, Labafinejad Hospital, Tehran, Iran.
Yalda JamshidiGenetics Research Centre, Molecular and Clinical Sciences Institute, St. George's, University of London, London, United Kingdom.
Sebahattin CirakDepartment of Pediatrics, University Hospital Cologne, Cologne, Germany.
Ahvaz Jundishapur University of Medical Sciences · IRUniversity Hospital Cologne · DESt George's, University of London · GBSağlık Bilimleri Üniversitesi · TRUniversity College London · GBUniversity of Cologne · DEErciyes University · TRFiroozgar General Hospital · IRHospital Labbafinejad · IRIslamic Azad University, Tehran · IRIstituto Giannina Gaslini · ITKayseri Eğitim ve Araştırma Hastanesi · TRNecmettin Erbakan University · TRPir Mehr Ali Shah Arid Agriculture University · PKShahid Chamran University of Ahvaz · IR

Funding

Medical Research Council G0601943Medical Research Council MR/K000608/1Medical Research Council MR/S005021/1Medical Research Council MR/S01165X/1Wellcome Trust
6 · The paper itself

Abstract

Charcot-Marie-Tooth type 4 (CMT4) is an autosomal recessive severe form of neuropathy with genetic heterogeneity. CMT4B1 is caused by mutations in the myotubularin-related 2 (

Indexed as

Charcot-Marie-Tooth disease type 4B1membrane remodelingmyotubularin-related 2 genephosphoinositideswhole-exome sequencing

Identifiers

PMID31680794
PMCPMC6807680
OpenAlexW2970788863

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.