Evidence map›Paper›PMID 38532471›Full record

ArticleMovement disorders clinical practice2024

A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family.

Cesar Chacaltana-Vinas, Patricia Ramirez-Pajares, Alid Manrique-Palomino, Amanda R Clause, Aditi Chawla, Erin Thorpe, Ryan Taft, Andrea Rivera-Valdivia, Elison Sarapura-Castro, Jeny Bazalar-Montoya and 1 more

Open access · bronzeAbstract readCase ReportsLetter
In one paragraph

Article in Movement disorders clinical practice, 2024. 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
0.8field-weighted citation impact, top 32% 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. Review
  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

11 authors at 5 institutions in 2 countries.

Cesar Chacaltana-VinasNeurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru.ORCID 0000-0002-4554-6168
Patricia Ramirez-PajaresNeurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru.
Alid Manrique-PalominoNeurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru.
Amanda R ClauseIllumina, Inc., San Diego, California, USA.
Aditi ChawlaIllumina, Inc., San Diego, California, USA.
Erin ThorpeIllumina, Inc., San Diego, California, USA.
Ryan TaftIllumina, Inc., San Diego, California, USA.
Andrea Rivera-ValdiviaNeurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru.
Elison Sarapura-CastroNeurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru.ORCID 0000-0002-1562-3062
Jeny Bazalar-MontoyaNeurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru.
Mario Cornejo-OlivasNeurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru.ORCID 0000-0001-6313-5680
Illumina (United States) · USUniversidad Científica del Sur · PEInstituto Nacional de Ciencias NeurológicasInstituto Nacional de Enfermedades Neoplásicas · PEUniversidad Peruana Cayetano Heredia · PE

Funding

Peru Infectious Diseases Epidemiology Research Training ConsortiumD43TW007393 · FIC · UNIVERSIDAD PERUANA CAYETANO HEREDIA · PI Andres G Lescano · 2005 to 2026
$5.9M
FIC NIH HHS D43 TW007393
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

DystoniaSequestosome-1 ProteinAdultAtaxiaFemaleHumansMaleMiddle AgedNeurodegenerative DiseasesPedigreePeruSequestosome-1 ProteinSQSTM1 protein, humanNADGPneurodegenerationPeruvianrecessive ataxia

Identifiers

PMID38532471
PMCPMC11145125
OpenAlexW4393229198

What OpenQuestion holds

Textmetadata
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.