Evidence map›Paper›PMID 36698997›Full record

ReviewMovement disorders clinical practice2023

Childhood-Onset Choreo-Dystonia Due to a Recurrent Novel Homozygous Nonsense

Francesca Magrinelli, Kailash P Bhatia, Mehran Beiraghi Toosi, Fatemeh Arab, Ehsan Ghayoor Karimiani, Sahar Sedighzadeh, Behnaz Ansari, Maedeh Neshatdoust, Clarissa Rocca, Henry Houlden and 1 more

Open access · hybridAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Movement disorders clinical practice, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.7field-weighted citation impact, top 36% 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

3 citing papers in PubMed, 7 citations in OpenAlex.

  1. Nighttime sleep promotes mechanosensory habituation inbioRxiv : the preprint server for biology · 2026
    Article
  2. Review
  3. 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

11 authors at 6 institutions in 2 countries.

Francesca MagrinelliDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology University College London London United Kingdom.ORCID https://orcid.org/0000-0003-4706-6245
Kailash P BhatiaDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology University College London London United Kingdom.ORCID https://orcid.org/0000-0001-8185-286X
Mehran Beiraghi ToosiDepartment of Pediatrics, School of Medicine Mashhad University of Medical Sciences Mashhad Iran.
Fatemeh ArabDepartment of Medical Genetics, Faculty of Medicine Tehran University of Medical Sciences Tehran Iran.
Ehsan Ghayoor KarimianiMolecular and Clinical Sciences Institute St. George's University of London London United Kingdom.
Sahar SedighzadehDepartment of Biological Sciences, Faculty of Science Shahid Chamran University of Ahvaz Ahvaz Iran.
Behnaz AnsariDepartment of Neurology, School of Medicine, Neurosciences Research Centre, Al-Zahra Hospital Isfahan University of Medical Sciences Isfahan Iran.
Maedeh NeshatdoustDepartment of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology University of Isfahan Isfahan Iran.
Clarissa RoccaDepartment of Neuromuscular Diseases UCL Queen Square Institute of Neurology London United Kingdom.
Henry HouldenDepartment of Neuromuscular Diseases UCL Queen Square Institute of Neurology London United Kingdom.ORCID https://orcid.org/0000-0002-2866-7777
Reza MaroofianDepartment of Neuromuscular Diseases UCL Queen Square Institute of Neurology London United Kingdom.
National Hospital for Neurology and Neurosurgery · GBIsfahan University of Medical Sciences · IRIsfahan University of Technology · IRMashhad University of Medical Sciences · IRSt George's, University of London · GBTehran University of Medical Sciences · IR

Funding

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

Abstract

Background: Biallelic variants in Cases: We report four individuals with a new phenotype of childhood-onset choreo-dystonia belonging to two unrelated Iranian pedigrees and harboring a novel homozygous nonsense pathogenic variant NM_002143.3:c.49C>T p.(Arg17*) in Literature Review: A systematic review of articles on Conclusions: Our case series expands the pheno-genotypic spectrum of

Indexed as

choreadystoniageneticshippocalcinHPCA

Identifiers

PMID36698997
PMCPMC9847280
OpenAlexW4288447320

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.