Evidence map›Paper›PMID 37090937›Full record

ArticleNeurology. Genetics2023

Novel

Catherine Ashton, Mark Davis, Nigel Laing, Gianina Ravenscroft, Philipa Lamont

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.5field-weighted citation impact, top 36% 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

4 citing papers in PubMed, 4 citations in OpenAlex.

  1. GPi-DBS for SERAC1-Related Dystonia-Parkinsonism.Movement disorders clinical practice · 2026
    Article
  2. Adult-Onset Dystonia-Parkinsonism: Do Not Forget SERAC1.Movement disorders clinical practice · 2025
    Article
  3. Article
  4. 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

5 authors at 3 institutions in 1 country.

Catherine AshtonDepartment of Neurogenetics (C.A., P.L.), Royal Perth Hospital, Perth, WA; Department of Diagnostic Genomics (M.D.), PathWest Laboratory Medicine WA, Nedlands; Centre for Medical Research (M.D., N.L., G.R.), University of Western Australia, Nedlands; and Harry Perkins Institute of Medical Research (N.L., G.R.), Nedlands, WA, Australia.
Mark DavisDepartment of Neurogenetics (C.A., P.L.), Royal Perth Hospital, Perth, WA; Department of Diagnostic Genomics (M.D.), PathWest Laboratory Medicine WA, Nedlands; Centre for Medical Research (M.D., N.L., G.R.), University of Western Australia, Nedlands; and Harry Perkins Institute of Medical Research (N.L., G.R.), Nedlands, WA, Australia.
Nigel LaingDepartment of Neurogenetics (C.A., P.L.), Royal Perth Hospital, Perth, WA; Department of Diagnostic Genomics (M.D.), PathWest Laboratory Medicine WA, Nedlands; Centre for Medical Research (M.D., N.L., G.R.), University of Western Australia, Nedlands; and Harry Perkins Institute of Medical Research (N.L., G.R.), Nedlands, WA, Australia.
Gianina RavenscroftDepartment of Neurogenetics (C.A., P.L.), Royal Perth Hospital, Perth, WA; Department of Diagnostic Genomics (M.D.), PathWest Laboratory Medicine WA, Nedlands; Centre for Medical Research (M.D., N.L., G.R.), University of Western Australia, Nedlands; and Harry Perkins Institute of Medical Research (N.L., G.R.), Nedlands, WA, Australia.
Philipa LamontDepartment of Neurogenetics (C.A., P.L.), Royal Perth Hospital, Perth, WA; Department of Diagnostic Genomics (M.D.), PathWest Laboratory Medicine WA, Nedlands; Centre for Medical Research (M.D., N.L., G.R.), University of Western Australia, Nedlands; and Harry Perkins Institute of Medical Research (N.L., G.R.), Nedlands, WA, Australia.
Harry Perkins Institute of Medical Research · AURoyal Perth Hospital · AUPathwest Laboratory Medicine · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: To report a novel likely pathogenic variant in the Methods: Clinical, biochemical, and imaging assessments were performed on 2 affected adult brothers with a genetically unsolved progressive neurologic disorder followed by whole-genome sequencing. Results: A homozygous likely pathogenic variant in the Discussion: We describe a novel homozygous variant in the serine active site-containing protein 1 gene (

Identifiers

PMID37090937
PMCPMC10117696
OpenAlexW4362473327

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.