Evidence map›Paper›PMID 39376195›Full record

ArticleJournal of child neurology2025

Determination of Health Concepts in β-Propeller Protein-Associated Neurodegeneration.

Emma Kotes, Francesco Gavazzi, Sarah Woidill, Anjana Sevagamoorthy, Eric Yang, Vanessa Smith, Holly Dubbs, Samuel R Pierce, Kristy Pucci, Joseph Vithayathil and 2 more

Abstract read
In one paragraph

Article in Journal of child neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Article
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  5. Observational
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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

12 authors.

Emma KotesDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Francesco GavazziDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0002-4908-8395
Sarah WoidillDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Anjana SevagamoorthyDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Eric YangDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Vanessa SmithVanderbilt School of Medicine, Vanderbilt University, Nashville, TN, USA.
Holly DubbsDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Samuel R PierceDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Kristy PucciDepartment of Occupational Therapy, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Joseph VithayathilDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0002-1070-5237
Nivedita ThakurDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Laura A AdangDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Funding

Validation of the GMFC-MLDU54NS115052 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI S. Ali Fatemi · 2019 to 2026
$14.3M
PENN Vision Clinical Scientist ProgramK12EY015398 · NEI · UNIVERSITY OF PENNSYLVANIA · PI JOSHUA L DUNAIEF · 2004 to 2026
$11.7M
NEI NIH HHS K12 EY015398NINDS NIH HHS U54 NS115052
6 · The paper itself

Abstract

β-Propeller protein-associated neurodegeneration (BPAN) is a rare, X-linked condition caused by pathogenic variants in the

Indexed as

Quality of LifeActivities of Daily LivingAdolescentCaregiversCarrier ProteinsChildChild, PreschoolFemaleHumansInfantIron Metabolism DisordersMaleNeuroaxonal DystrophiesProspective StudiesSurveys and QuestionnairesCarrier ProteinsWDR45 protein, humandisabilityoutcomepediatricquality of life

Identifiers

PMID39376195
PMCPMC11598671

What OpenQuestion holds

Textmetadata
LicenceTDM
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.