Evidence map›Paper›PMID 39767580›Full record

ArticleBiomedicines2024

Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic.

Luca Marsili, Kevin R Duque, Jesus Abanto, Nathaly O Chinchihualpa Paredes, Andrew P Duker, Kathleen Collins, Marcelo Miranda, M Leonor Bustamante, Michael Pauciulo, Michael Dixon and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Biomedicines, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. 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

15 authors.

Luca MarsiliGardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, Cincinnati, OH 45219, USA.ORCID 0000-0002-6438-9911
Kevin R DuqueGardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, Cincinnati, OH 45219, USA.ORCID 0000-0002-5981-3140
Jesus AbantoGardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, Cincinnati, OH 45219, USA.
Nathaly O Chinchihualpa ParedesGardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, Cincinnati, OH 45219, USA.ORCID 0000-0002-4867-3971
Andrew P DukerGardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, Cincinnati, OH 45219, USA.ORCID 0000-0002-7142-9563
Kathleen CollinsDivision of Human Genetics, Department of Pediatrics, Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Marcelo MirandaClinica MEDS, Santiago 7690727, Chile.ORCID 0009-0001-0974-4757
M Leonor BustamanteClinica MEDS, Santiago 7690727, Chile.
Michael PauciuloDivision of Human Genetics, Department of Pediatrics, Children's Hospital Medical Center, Cincinnati, OH 45229, USA.ORCID 0000-0002-2141-2966
Michael DixonDivision of Human Genetics, Department of Pediatrics, Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Hassan ChaibDivision of Human Genetics, Department of Pediatrics, Children's Hospital Medical Center, Cincinnati, OH 45229, USA.ORCID 0009-0003-5964-1005
Josefina Perez-MaturoNeurogenetics Unit, Hospital JM Ramos Mejía, Buenos Aires C1221ADC, Argentina.ORCID 0000-0002-2985-7046
Emily J HillGardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, Cincinnati, OH 45219, USA.
Alberto J EspayGardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, Cincinnati, OH 45219, USA.ORCID 0000-0002-3389-136X
Marcelo A KauffmanNeurogenetics Unit, Hospital JM Ramos Mejía, Buenos Aires C1221ADC, Argentina.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

ataxiageneticslong-read sequencingparkinsonismwhole-exome sequencing

Identifiers

PMID39767580
PMCPMC11727247

What OpenQuestion holds

Textmetadata
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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.