Evidence map›Paper›PMID 39092477›Full record

ArticleMovement disorders clinical practice2024

Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant.

Franclo Henning, Kireshnee Naidu, Christopher J Record, Natalia Dominik, Jana Vandrovcova, Frans Lubbe, Marli Dercksen, ICGNMD Consortium, Lindsay A Wilson, Francois Van Der Westhuizen and 4 more

Abstract readLetter
PubMed Full text at PMC Publisher
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. 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

14 authors.

Franclo HenningDivision of Neurology, Department of Medicine, Stellenbosch University, Cape Town, South Africa.ORCID https://orcid.org/0000-0002-4006-8101
Kireshnee NaiduDivision of Neurology, Department of Medicine, Stellenbosch University, Cape Town, South Africa.
Christopher J RecordDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
Natalia DominikDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
Jana VandrovcovaDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
Frans LubbeNeurology Private Practice, Hermanus, South Africa.
Marli DercksenFaculty of Natural and Agricultural Sciences, Focus Area for Human Metabolomics, North-West University, Potchefstroom, South Africa.
ICGNMD Consortium
Lindsay A WilsonDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
Francois Van Der WesthuizenFaculty of Natural and Agricultural Sciences, Focus Area for Human Metabolomics, North-West University, Potchefstroom, South Africa.
Mary M ReillyDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
Henry HouldenDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.ORCID https://orcid.org/0000-0002-2866-7777
Michael G HannaDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
Jonathan CarrDivision of Neurology, Department of Medicine, Stellenbosch University, Cape Town, South Africa.ORCID https://orcid.org/0000-0002-7677-426X

Funding

trainingU54NS065712 · NINDS · WAYNE STATE UNIVERSITY · PI SHY, MICHAEL E. · 2009 to 2023
$19.6M
Accelerate Clinical Trials in CMT (ACTCMT) StudyU01NS109403 · NINDS · UNIVERSITY OF ROCHESTER · PI HERRMANN, DAVID N · 2019 to 2023
$6.4M
MRF MR/S005021/1Muscular Dystrophy Association MDA510281National Institutes of Neurological Diseases and Stroke and office of Rare Diseases 1UOINS109403-01National Institutes of Neurological Diseases and Stroke and office of Rare Diseases U54NS065712NINDS NIH HHS U54 NS065712Wellcome TrustWellcome Trust G104817
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

ataxiadystoniaperoxisomal disordersperoxisome biogenesis disorderPEX11Btremor

Identifiers

PMID39092477
PMCPMC11489608

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.