Evidence map›Paper›PMID 34755096›Full record

ArticleiScience2021

An empirical pipeline for personalized diagnosis of Lafora disease mutations.

M Kathryn Brewer, Maria Machio-Castello, Rosa Viana, Jeremiah L Wayne, Andrea Kuchtová, Zoe R Simmons, Sarah Sternbach, Sheng Li, Maria Adelaida García-Gimeno, Jose M Serratosa and 3 more

Open access · goldAbstract read
In one paragraph

Article in iScience, 2021. 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
1.5field-weighted citation impact, top 18% 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

6 citing papers in PubMed, 10 citations in OpenAlex.

  1. Neurological glycogen storage diseases and emerging therapeutics.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024
    Review
  2. Article
  3. Article
  4. Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2023
    Article
  5. Article
  6. 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

13 authors at 4 institutions in 2 countries.

M Kathryn BrewerDepartment of Molecular and Cellular Biochemistry, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
Maria Machio-CastelloNeurology Laboratory and Epilepsy Unit, Department of Neurology, IIS Fundación Jiménez Díaz, UAM and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid 28040, Spain.
Rosa VianaInstitute of Biomedicine of Valencia, CSIC and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia 46010, Spain.
Jeremiah L WayneDepartment of Molecular and Cellular Biochemistry, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
Andrea KuchtováDepartment of Molecular and Cellular Biochemistry, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
Zoe R SimmonsDepartment of Molecular and Cellular Biochemistry, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
Sarah SternbachDepartment of Molecular and Cellular Biochemistry, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
Sheng LiDepartment of Medicine, University of California at San Diego, La Jolla, CA 92093, USA.
Maria Adelaida García-GimenoDepartment of Biotechnology, Escuela Técnica Superior de Ingeniería Agronómica y del Medio Natural (ETSIAMN), Polytechnic University of Valencia, 46022 Valencia, Spain.
Jose M SerratosaLafora Epilepsy Cure Initiative, Epilepsy and Brain Metabolism Center, and Center for Structural Biology, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
Pascual SanzLafora Epilepsy Cure Initiative, Epilepsy and Brain Metabolism Center, and Center for Structural Biology, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
Craig W Vander KooiDepartment of Molecular and Cellular Biochemistry, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
Matthew S GentryDepartment of Molecular and Cellular Biochemistry, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
University of Kentucky · USCentre for Biomedical Network Research on Rare Diseases · ESUniversitat Politècnica de València · ESUniversity of California San Diego · US

Funding

Suppressing glycogen storage with small molecule inhibitors as a therapeutic approach to Lafora DiseaseP01NS097197 · NINDS · UNIVERSITY OF KENTUCKY · PI GAO, TIANYAN · 2016 to 2021
$9.0M
Brain Glycogen-Metabolism,Mechanisms, and Therapeutic PotentialR35NS116824 · NINDS · UNIVERSITY OF KENTUCKY · PI Matthew S. Gentry · 2020 to 2026
$8.2M
NRSA Training CoreTL1TR001997 · NCATS · UNIVERSITY OF KENTUCKY · PI PENDERGAST, JULIE S, STOOPS, WILLIAM WALTON · 2016 to 2025
$4.2M
NCATS NIH HHS TL1 TR001997NINDS NIH HHS R35 NS116824
6 · The paper itself

Abstract

Lafora disease (LD) is a fatal childhood dementia characterized by progressive myoclonic epilepsy manifesting in the teenage years, rapid neurological decline, and death typically within ten years of onset. Mutations in either

Indexed as

BiochemistryBiophysicsDiseaseStructural biology

Identifiers

PMID34755096
PMCPMC8564118
OpenAlexW3152147877

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.