Evidence map›Paper›PMID 42466401›Full record

ArticleResearch square2026

Biallelic variants in

Lydia Green, Noémie Hamilton, Marilena Elpidorou, Reza Maroofian, Maha S Zaki, Andrew G L Douglas, Katrin Õunap, Ailsa M S Rose, Erica L Harris, Diogo Candeias and 45 more

Abstract readPreprint
In one paragraph

Article in Research square, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

55 authors.

Lydia GreenLeeds Institute of Medical Research, University of Leeds, Leeds, UK.
Noémie HamiltonThe Bateson Centre, Division of Clinical Medicine, University of Sheffield, Sheffield, UK.
Marilena ElpidorouLeeds Institute of Medical Research, University of Leeds, Leeds, UK.
Reza MaroofianDepartment of Neuromuscular Disorders, University College London, London, UK.
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Andrew G L DouglasOxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Katrin ÕunapDepartment of Clinical Genetics and Personalised Medicine Clinic, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Ailsa M S RoseLeeds Institute of Medical Research, University of Leeds, Leeds, UK.
Erica L HarrisLeeds Institute of Medical Research, University of Leeds, Leeds, UK.
Diogo CandeiasThe Bateson Centre, Division of Clinical Medicine, University of Sheffield, Sheffield, UK.
Stone ElworthyThe Bateson Centre, Division of Clinical Medicine, University of Sheffield, Sheffield, UK.
Stephen A RenshawThe Bateson Centre, Division of Clinical Medicine, University of Sheffield, Sheffield, UK.
Elizabeth C LowThe Bateson Centre, Division of Clinical Medicine, University of Sheffield, Sheffield, UK.
David H DockrellInstitute for Regeneration and Repair, University of Edinburgh, Scotland, UK.
Kristian TvetenDepartment of Medical Genetics, Telemark Hospital Trust, Skien, Norway.
Geoffrey WellsUCL School of Pharmacy, University College London, 29/39 Brunswick Square, London, UK.
Sarah A HarrisAstbury Centre for Structural Molecular Biology, School of Physics and Astronomy, University of Leeds, Woodhouse Lane, Leeds, UK.
Almundher Al-MaawaliDepartment of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University Hospital, University Medical City and Sultan Qaboos University, Oman.
Khalid Al-ThihliOphthalmology Department, College of Medicine and Health Sciences, Sultan Qaboos University Hospital, University Medical City and Sultan Qaboos University, Oman.
Sana Al-ZuhaibiPediatric Neurology Unit, Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University Hospital, Sultan Qaboos University, Oman.
Amna Al FutaisiPediatric Neurology Unit, Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University Hospital, Sultan Qaboos University, Oman.
Daniel G CalameSection of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Ivan K ChinnDivision of Immunology, Allergy and Retrovirology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Kristen S FisherSection of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Mario SaPaediatric Neurology Department, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Daniel WarrenDepartment of Radiology, Leeds Teaching Hospitals Trust, Leeds, UK.
Mina ZamaniDepartment of Neuromuscular Disorders, University College London, London, UK.
Saeid SadeghianDepartment of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Reza AzizimalamiriDepartment of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Hamid GalehdariDepartment of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
Gholamreza ShariatiNarges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.
Tahere SeifiNarges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.
Erum AfzalDevelopmental-Behavioral Pediatrics, Children Hospital and the Institute of Child Health Multan, Pakistan.
Mark A TarnopolskyDepartment of Pediatrics, McMaster University, Hamilton, ON, Canada.
Lauren BradyDepartment of Pediatrics, McMaster University, Hamilton, ON, Canada.
Stephan ZuchnerDepartment of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Niloofar ChamanrouDepartment of Genetics, Faculty of Science, Shahrekord University, Shahrekord, Iran.
Annarita ScardamagliaDepartment of Neuromuscular Disorders, University College London, London, UK.
Emma WakelingNorth East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Prab PrabhakarDepartment of Paediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Carla Roca-BayerriCentre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
Gillian I RiceDivision of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
Clément ProuteauDepartment of Genetics, Angers University Hospital, Angers, France.
Céline BrisDepartment of Genetics, Angers University Hospital, Angers, France.
Marine TessarechDepartment of Genetics, Angers University Hospital, Angers, France.
Inger SandvigDepartment of Child Neurology, Oslo University Hospital, Oslo, Norway.
Noureddine HedjemNeonatal Care, Perpignan Hospital, Perpignan, France.
Aaisha Al BalushiNational Genetic Center, Royal Hospital, Muscat, Oman.
Dana MarafiDepartment of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait.
Henry HouldenDepartment of Neuromuscular Disorders, University College London, London, UK.
Eamonn G SheridanLeeds Institute of Medical Research, University of Leeds, Leeds, UK.
Colin A JohnsonLeeds Institute of Medical Research, University of Leeds, Leeds, UK.
John H LivingstonLeeds Institute of Medical Research, University of Leeds, Leeds, UK.
Yanick J CrowMRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
James A PoulterLeeds Institute of Medical Research, University of Leeds, Leeds, UK.

Funding

GENOME STUDIES IN HEREDITARY SPASTIC PARAPLEGIA - beyond the exomeR01NS072248 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Stephan Zuchner · 2011 to 2026
$9.2M
Spastic Paraplegia Centers of Excellence Research Network (SP-CERN) - RDCRCU54NS148312 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI Darius Ebrahimi-Fakhari, MICHAEL E. SHY · 2025 to 2026
$5.0M
NINDS NIH HHS R01 NS072248NINDS NIH HHS U54 NS148312
6 · The paper itself

Abstract

Purpose: Sensing and degradation of double stranded RNA (dsRNA) in the cell is tightly regulated to avoid activation of type I interferon signalling. The mitochondrial dsRNA degradosome complex is formed by PNPT1 and SUPV3L1. While biallelic Methods: Through an international collaboration, we identified 21 patients with biallelic Results: Fifteen different biallelic loss-of-function Conclusion: We define the genetic, clinical and radiological spectrum of

Identifiers

PMID42466401
PMCPMC13370652

What OpenQuestion holds

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Registered trials

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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.