Evidence map›Paper›PMID 28695146›Full record

ArticleAnnals of clinical and translational neurology2017

Megalencephalic leukoencephalopathy with cysts: the

Marianna Bugiani, Mohit Dubey, Marjolein Breur, Nienke L Postma, Marien P Dekker, Timo Ter Braak, Ursula Boschert, Truus E M Abbink, Huibert D Mansvelder, Rogier Min and 2 more

Open access · goldAbstract read
In one paragraph

Article in Annals of clinical and translational neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed
2.4field-weighted citation impact, top 11% 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

32 citing papers in PubMed, 66 citations in OpenAlex.

  1. Cell-to-Cell Signaling Networks at the Blood-Brain Barrier in Health and Disease.Arteriosclerosis, thrombosis, and vascular biology · 2026
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  6. Development of perivascular astrocyte processes.Frontiers in neuroscience · 2025
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  13. Emerging cellular themes in leukodystrophies.Frontiers in cell and developmental biology · 2022
    Review
  14. Review
  15. Article
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  17. Article
  18. Glial Chloride Channels in the Function of the Nervous System Across Species.Advances in experimental medicine and biology · 2021
    Article
  19. Cerebellar Astrocyte Transduction as Gene Therapy for Megalencephalic Leukoencephalopathy.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2020
    Article
  20. Urinary ketone body loss leads to degeneration of brain white matter in elderly SLC5A8-deficient mice.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2020
    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

12 authors at 1 institution in 2 countries.

Marianna BugianiDepartment of Pediatrics/Child Neurology Amsterdam Neuroscience VU University Medical Center Amsterdam The Netherlands.
Mohit DubeyDepartment of Pediatrics/Child Neurology Amsterdam Neuroscience VU University Medical Center Amsterdam The Netherlands.
Marjolein BreurDepartment of Pediatrics/Child Neurology Amsterdam Neuroscience VU University Medical Center Amsterdam The Netherlands.
Nienke L PostmaDepartment of Pediatrics/Child Neurology Amsterdam Neuroscience VU University Medical Center Amsterdam The Netherlands.
Marien P DekkerDepartment of Functional Genomics Center for Neurogenomics and Cognitive Research Amsterdam Neuroscience VU University Amsterdam The Netherlands.
Timo Ter BraakDepartment of Pediatrics/Child Neurology Amsterdam Neuroscience VU University Medical Center Amsterdam The Netherlands.
Ursula BoschertTranslational Innovation Platform Immunology/Neurology EMD Serono Research & Development Institute Billerica 01821 Massachusetts.
Truus E M AbbinkDepartment of Pediatrics/Child Neurology Amsterdam Neuroscience VU University Medical Center Amsterdam The Netherlands.
Huibert D MansvelderDepartment of Integrative Neurophysiology Center for Neurogenomics and Cognitive Research Amsterdam Neuroscience VU University Amsterdam The Netherlands.
Rogier MinDepartment of Pediatrics/Child Neurology Amsterdam Neuroscience VU University Medical Center Amsterdam The Netherlands.
Jan R T van WeeringDepartment of Functional Genomics Center for Neurogenomics and Cognitive Research Amsterdam Neuroscience VU University Amsterdam The Netherlands.
Marjo S van der KnaapDepartment of Pediatrics/Child Neurology Amsterdam Neuroscience VU University Medical Center Amsterdam The Netherlands.
Amsterdam Neuroscience · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveMegalencephalic leukoencephalopathy with cysts (MLC) is a genetic infantile-onset disease characterized by macrocephaly and white matter edema due to loss of MLC1 function. Recessive mutations in either

methodsWe investigated the consequences of loss of GlialCAM in

results

interpretation

Identifiers

PMID28695146
PMCPMC5497535
OpenAlexW2623364241

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.