Evidence map›Paper›PMID 41426050›Full record

ArticleNeurology. Genetics2026

Expanding the Early Childhood Manifestations of

Lara E Terry, Holly Dubbs, Kelly H Markwalter, Sundeep Malik, Jesus A Tintos-Hernandez, David I Yule, Xilma R Ortiz-Gonzalez

Abstract read
In one paragraph

Article in Neurology. Genetics, 2026. 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. 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

7 authors.

Lara E TerrySecretory Physiology Section, NIDCR, Bethesda, MD.ORCID https://orcid.org/0000-0002-0200-4334
Holly DubbsDivision of Neurology, Children's Hospital of Philadelphia, PA; and.ORCID https://orcid.org/0000-0003-1370-6195
Kelly H MarkwalterDivision of Neurology, Children's Hospital of Philadelphia, PA; and.ORCID https://orcid.org/0000-0002-6879-4228
Sundeep MalikDepartment of Pharmacology and Physiology, University of Rochester, NY.ORCID https://orcid.org/0000-0003-1048-4582
Jesus A Tintos-HernandezDivision of Neurology, Children's Hospital of Philadelphia, PA; and.
David I YuleDepartment of Pharmacology and Physiology, University of Rochester, NY.ORCID https://orcid.org/0000-0002-6743-0668
Xilma R Ortiz-GonzalezDivision of Neurology, Children's Hospital of Philadelphia, PA; and.

Funding

Unraveling the Mechanisms of Neurodegeneration in TBCK EncephaloneuronopathyR01NS132795 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI XILMA R ORTIZ-GONZALEZ · 2023 to 2026
$2.8M
NINDS NIH HHS R01 NS132795
6 · The paper itself

Abstract

Background and Objectives: Heterozygous Methods: Clinical data were collected by retrospective chart review at a single center. Functional studies to test the effect of the p.Gly2539Trp novel missense variant were performed in vitro to assess the subcellular distribution of the encoded IP Results: We identified 3 pediatric patients with heterozygous Discussion: Our data support an expansion of the clinical phenotype of the pediatric presentation of

Identifiers

PMID41426050
PMCPMC12712843

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.