Evidence map›Paper›PMID 36688175›Full record

ArticleFrontiers in aging neuroscience2022

Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome.

Andrea Elias-Mas, Miriam Potrony, Jaume Bague, David J Cutler, Maria Isabel Alvarez-Mora, Teresa Torres, Tamara Barcos, Joan Anton Puig-Butille, Marta Rubio, Irene Madrigal and 3 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in aging neuroscience, 2022. 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
0.9field-weighted citation impact, top 21% 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, 3 citations in OpenAlex.

  1. Article
  2. Article
  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

13 authors at 8 institutions in 2 countries.

Andrea Elias-MasRadiology Department, Hospital Universitari Mútua de Terrassa, Terrassa, Barcelona, Spain.
Miriam PotronyBiochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, Barcelona, Spain.
Jaume BagueInstitut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
David J CutlerDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, United States.
Maria Isabel Alvarez-MoraBiochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, Barcelona, Spain.
Teresa TorresInstitut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
Tamara BarcosBiochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, Barcelona, Spain.
Joan Anton Puig-ButilleInstitut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
Marta RubioInstitute for Research and Innovation Parc Taulí (I3PT), Sabadell, Spain.
Irene MadrigalBiochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, Barcelona, Spain.
Susana PuigInstitut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
Emily G AllenDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, United States.
Laia Rodriguez-RevengaBiochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, Barcelona, Spain.
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer · ESEmory University · USHospital Clínic de Barcelona · ESInstituto de Salud Carlos III · ESCentre for Biomedical Network Research on Rare Diseases · ESDeleted InstitutionMútua Terrassa · ESUniversitat de Barcelona · ES

Funding

The FMR1 CGG repeat as functional element and therapeutic target in Fragile X associated disordersP50HD104463 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI ALLEN, EMILY GRAVES · 2020 to 2024
$9.0M
NICHD NIH HHS P50 HD104463
6 · The paper itself

Abstract

Introduction: Fragile X-associated tremor/ataxia syndrome (FXTAS, OMIM# 300623) is a late-onset neurodegenerative disorder with reduced penetrance that appears in adult Methods: To investigate the association of Results: The frequency of Discussion: Although

Indexed as

AQP4FMR1 premutationFXTASgenetic variationglymphatic system

Identifiers

PMID36688175
PMCPMC9853890
OpenAlexW4313608321

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.