Evidence map›Paper›PMID 39980901›Full record

ArticleNeurology. Genetics2025

Neonatal-Onset Opsoclonus-Myoclonus-Ataxia-Like Syndrome Caused by De Novo

Tamar Gachechiladze, Otar Koniashvili, Nazhi Tabatadze, Mariam Melikishvili, Gvantsa Khachiashvili, Ekaterine Kurua, Rauan Kaiyrzhanov, Gia Melikishvili

Abstract read
In one paragraph

Article in Neurology. Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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

8 authors.

Tamar GachechiladzeDepartment of Pediatrics, MediClubGeorgia Medical Center, Tbilisi, Georgia.ORCID https://orcid.org/0000-0001-5969-9280
Otar KoniashviliDepartment of Pediatrics, MediClubGeorgia Medical Center, Tbilisi, Georgia.
Nazhi TabatadzeDepartment of Pediatrics, MediClubGeorgia Medical Center, Tbilisi, Georgia.
Mariam MelikishviliDepartment of Pediatrics, MediClubGeorgia Medical Center, Tbilisi, Georgia.
Gvantsa KhachiashviliDepartment of Pediatrics, MediClubGeorgia Medical Center, Tbilisi, Georgia.
Ekaterine KuruaDepartment of Pediatrics, MediClubGeorgia Medical Center, Tbilisi, Georgia.ORCID https://orcid.org/0000-0001-5016-479X
Rauan KaiyrzhanovDepartment of Neuromuscular Diseases, University College London, London, United Kingdom.ORCID https://orcid.org/0000-0003-1640-4010
Gia MelikishviliDepartment of Pediatrics, MediClubGeorgia Medical Center, Tbilisi, Georgia.ORCID https://orcid.org/0000-0002-5651-5981

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: The Methods: Serial MRI of the brain, chest, abdomen, and pelvis; I-123 MIBG scintigraphy; long-term video-EEG; infectious disease screening; and trio-exome sequencing were performed, and urine levels of vanillylmandelic and homovanillic acids were measured. Ataxia and cerebellar symptoms were assessed using the SARA and Mitchell-Pike OMS scales. A PubMed and SCOPUS search for Results: The de novo pathogenic variant in the Discussion: Our findings point to a possible causal relationship between the

Identifiers

PMID39980901
PMCPMC11839232

What OpenQuestion holds

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Registered trials

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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.