Evidence map›Paper›PMID 38497520›Full record

ArticleMovement disorders clinical practice2024

An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia.

Shadi El-Wahsh, Avi Fellner, Matthew Hobbs, Joe Copty, Ira Deveson, Igor Stevanovski, Marion Stoll, Danqing Zhu, Ramesh K Narayanan, Bianca Grosz and 9 more

Abstract 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 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. Article
  2. Exploration of Neurodegenerative Diseases Using Long-Read Sequencing and Optical Genome Mapping Technologies.Movement disorders : official journal of the Movement Disorder Society · 2025
    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

19 authors.

Shadi El-WahshNeurology Department, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.ORCID 0000-0002-9629-7106
Avi FellnerGarvan Institute of Medical Research, Sydney, New South Wales, Australia.ORCID 0000-0001-5354-9134
Matthew HobbsGarvan Institute of Medical Research, Sydney, New South Wales, Australia.ORCID 0000-0002-6879-1369
Joe CoptyGarvan Institute of Medical Research, Sydney, New South Wales, Australia.
Ira DevesonGarvan Institute of Medical Research, Sydney, New South Wales, Australia.ORCID 0000-0003-3861-0472
Igor StevanovskiGarvan Institute of Medical Research, Sydney, New South Wales, Australia.
Marion StollMolecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.
Danqing ZhuMolecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.
Ramesh K NarayananNorthcott Neuroscience Laboratory, ANZAC Research Institute-Sydney Local Health District, Concord, New South Wales, Australia.ORCID 0000-0001-8171-474X
Bianca GroszNorthcott Neuroscience Laboratory, ANZAC Research Institute-Sydney Local Health District, Concord, New South Wales, Australia.ORCID 0000-0002-6926-0551
Lisa WorganClinical Genetics Service, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
Pak Leng CheongMolecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.
Dennis YeowNeurology Department, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.ORCID 0000-0001-7534-7007
Laura RudaksNeurology Department, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.ORCID 0000-0002-1100-319X
Md Mehedi HasanAncestry and Health Genomics Laboratory, Charles Perkins Centre, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
Vanessa M HayesAncestry and Health Genomics Laboratory, Charles Perkins Centre, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.ORCID 0000-0002-4524-7280
Marina KennersonMolecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.ORCID 0000-0003-3332-5074
Kishore R KumarNeurology Department, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.ORCID 0000-0003-3482-6962
Michael HayesNeurology Department, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.

Funding

Paul Ainsworth Family Foundation
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Dystonic DisordersGTP CyclohydrolaseAdultFemaleHumansMaleGCH1 protein, humanGTP Cyclohydrolasedopamine responsive dystoniaGCH1inversionoptical genome mappingstructural variantswhole genome sequencing

Identifiers

PMID38497520
PMCPMC11078477

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.