Evidence map›Paper›PMID 30704335›Full record

ArticleThe neuroradiology journal2019

β-Tubulinopathy caused by a mutation of the TUBB2B gene: magnetic resonance imaging findings of the brain.

Juliana Jimenez, Diego A Herrera, Sergio A Vargas, Jorge Montoya, Mauricio Castillo

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in The neuroradiology journal, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.5field-weighted citation impact, top 41% 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

5 citing papers in PubMed, 8 citations in OpenAlex.

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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

5 authors at 3 institutions in 1 country.

Juliana Jimenez1 Universidad CES, Colombia.ORCID https://orcid.org/0000-0001-9163-4399
Diego A Herrera2 Department of Radiology, Universidad de Antioquia, Colombia.
Sergio A Vargas2 Department of Radiology, Universidad de Antioquia, Colombia.
Jorge Montoya3 Division of Medical Genetics, Hospital Universitario San Vicente Fundación, Colombia.
Mauricio Castillo4 Department of Radiology, University of North Carolina, USA.
Universidad de Antioquia · COClínica CES · COHospital Universitario de San Vicente Fundación · CO

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Patients with mutations in tubulin-related genes usually present with brain malformations, intellectual disability, epilepsy, microcephaly and ocular abnormalities. In these patients the diagnosis can be suggested by neuroimaging findings. We report a 5-year-old patient with characteristic magnetic resonance imaging findings including malformation of cortical development, fused basal ganglia, large head of the caudate nuclei, absent anterior limbs of the internal capsules, corpus callosum dysgenesis and dysplastic cerebellar vermis. Sequencing of the TUBB2B gene confirmed a heterozygous mutation: c. 260C>A (p. Pro87Gln).

Indexed as

Child, PreschoolHumansMagnetic Resonance ImagingMaleMalformations of Cortical DevelopmentMutationPhenotypeTubulinTUBB2B protein, humanTubulinbrain malformationsepilepsyMicrotubulesneurodevelopmental delaystubulin

Identifiers

PMID30704335
PMCPMC6410457
OpenAlexW2914248455

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.