Evidence map›Paper›PMID 31133547›Full record

ArticleBMJ case reports2019

Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing

Weiyi Mu, Laura Tochen, Caroline Bertsch, Harvey S Singer, Kristin W Barañano

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMJ case reports, 2019. 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 20% 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, 12 citations in OpenAlex.

  1. Deletion of the THAP1 Gene Is Responsible for Typical DYT-THAP1.Movement disorders clinical practice · 2025
    Article
  2. Article
  3. Brain Calcifications: Genetic, Molecular, and Clinical Aspects.International journal of molecular sciences · 2023
    Review
  4. Article
  5. Isolated dystonia: clinical and genetic updates.Journal of neural transmission (Vienna, Austria : 1996) · 2021
    Review
  6. Article
  7. Basal ganglia calcifications (Fahr's syndrome): related conditions and clinical features.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2019
    Review
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.

Weiyi MuDepartment of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Laura TochenDepartment of Neurology, Children's National Health System, Washington, DC, USA.
Caroline BertschDivision of Medical Genetics, University of Texas, Houston, Texas, USA.
Harvey S SingerDepartments of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Kristin W BarañanoDepartments of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Johns Hopkins University · USChildren's National · USJohns Hopkins Medicine · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Several genes located within the chromosome 8p11.21 region are associated with movement disorders including

Indexed as

Apoptosis Regulatory ProteinsBrain DiseasesCalcinosisChildChromosomes, Human, Pair 2DNA-Binding ProteinsDystoniaGene DeletionHaploinsufficiencyHeterozygoteHumansMaleMicroarray AnalysisMovement DisordersNervous System MalformationsPolymorphism, Single NucleotideApoptosis Regulatory ProteinsDNA-Binding ProteinsSLC20A2 protein, humanSodium-Phosphate Cotransporter Proteins, Type IIITHAP1 protein, humangeneticsgenetic screening/counsellingmovement disorders (other than Parkinsons)neuro geneticsneurology

Identifiers

PMID31133547
PMCPMC6536165
OpenAlexW2947236240

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.