ArticleBrain communications2024
Autosomal recessive
Abstract read
In one paragraph
Article in Brain communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
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.
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.
Who cites it
5 citing papers in PubMed.
- Article
- Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis.Human genomics · 2026Article
- RanBALL: An Ensemble Machine Learning Framework for Accurate Subtype Identification of Pediatric B-Cell Acute Lymphoblastic Leukemia.Advanced intelligent systems (Weinheim an der Bergstrasse, Germany) · 2026Article
- Extracellular Matrix Remodeling in Motor Neuron Diseases.International journal of molecular sciences · 2025Review
- A complete and near-perfect rhesus macaque reference genome: lessons from subtelomeric repeats and sequencing bias.bioRxiv : the preprint server for biology · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
44 authors.
Sara NagyCentre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.ORCID https://orcid.org/0000-0001-6822-1609
Alistair T PagnamentaNIHR Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford OX3 9DU, UK.ORCID https://orcid.org/0000-0001-7334-0602
Elisa CaliCentre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Hilde M H BraakmanDepartment of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center & Donders Institute for Brain, Cognition and Behavior, Nijmegen 6525 GA, The Netherlands.
Juerd WijntjesDepartment of Neurology and Clinical Neurophysiology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen 6525 GD, The Netherlands.
Benno KustersDepartment of Pathology, Radboudumc, Nijmegen 6525 GA, The Netherlands.
Marc GotkineDepartment of Neurology, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112001, Israel.
Orly ElpelegDepartment of Genetics, Hadassah Medical Center, Hebrew University Medical Center, Jerusalem 9574869, Israel.
Vardiella MeinerDepartment of Genetics, Hadassah Medical Center, Hebrew University Medical Center, Jerusalem 9574869, Israel.
Jerica LenbergRady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
Kristen WigbyRady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
Jennifer FriedmanDepartment of Pediatrics, University of California San Diego, La Jolla, CA 92093, USA.
Luke D PerryThe Dubowitz Neuromuscular Centre, UCL Great Ormond Street, Great Ormond Street Hospital, London WC1N 1EH, UK.
Alexander M RossorCentre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Anna Uhrova MeszarosovaNeurogenetic Laboratory, Department of Paediatric Neurology, and Institute of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague 150 06, Czech Republic.
Dana ThomasovaNeurogenetic Laboratory, Department of Paediatric Neurology, and Institute of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague 150 06, Czech Republic.
Saiju JacobDepartment of Neurology, University Hospitals Birmingham, Birmingham B15 2TT, UK.
Mary O'DriscollWest Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham B15 2TG, UK.
Lenika De SimoneDivision of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.
Dorothy K GrangeDepartment of Neurology at Washington University, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63108, USA.
Richard SommervilleDepartment of Neurology at Washington University, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63108, USA.
Zahra FiroozfarPalindrome, Isfahan 83714, Iran.
Shahryar AlaviPalindrome, Isfahan 83714, Iran.
Mahta MazaheriDepartment of Medical Genetics, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd 97514, Iran.
Jevin M ParmarRare Disease Genetics and Functional Genomics Group, Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia.
Phillipa J LamontRoyal Perth Hospital, Perth, WA 6000, Australia.
Veronica PiniThe Dubowitz Neuromuscular Centre, UCL Great Ormond Street, Great Ormond Street Hospital, London WC1N 1EH, UK.
Anna SarkozyThe Dubowitz Neuromuscular Centre, UCL Great Ormond Street, Great Ormond Street Hospital, London WC1N 1EH, UK.
Francesco MuntoniThe Dubowitz Neuromuscular Centre, UCL Great Ormond Street, Great Ormond Street Hospital, London WC1N 1EH, UK.
Gianina RavenscroftRare Disease Genetics and Functional Genomics Group, Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia.
Eppie JonesGenomics Medicine Ireland, Dublin D18 K7W4, Ireland.
Declan O'RourkeChildren's Health Ireland at Temple Street, Dublin, Dublin D01 XD99, Ireland.
Melissa NelNeurogenomics Lab, Neuroscience Institute, University of Cape Town, Cape Town 7935, South Africa.
Jeannine M HeckmannNeurology Research Group, Neuroscience Institute, University of Cape Town, Cape Town 7935, South Africa.ORCID https://orcid.org/0000-0002-8999-718X
Michelle KvalsundDepartment of Neurology, University of Rochester Medical Center, Rochester, NY 14618, USA.
Musambo M KapapaDepartment of Physiotherapy, University of Zambia School of Health Sciences, Lusaka, Zambia.
Somwe Wa SomweDepartment of Paediatrics and Child Health, School of Medicine and Health Sciences, University of Lusaka, Lusaka, Zambia.
David R BeardenDepartment of Neurology, University of Rochester Medical Center, Rochester, NY 14618, USA.ORCID https://orcid.org/0000-0001-9488-0683
Arman ÇakarCentre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.ORCID https://orcid.org/0000-0002-8129-4172
Anne-Marie ChildsDepartment of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds LS1 3EX, UK.
Rita HorvathDepartment of Clinical Neurosciences, University of Cambridge, Cambridge CB2 2PY, UK.ORCID https://orcid.org/0000-0002-9841-170X
Mary M ReillyCentre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.ORCID https://orcid.org/0000-0003-0686-905X
Henry HouldenCentre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.ORCID https://orcid.org/0000-0002-2866-7777
Reza MaroofianCentre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.ORCID https://orcid.org/0000-0001-6763-1542
Funding
Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5MCommunity Health and Neuropathy: Nutritional and Environmental Links in Zambia (CHANNELZ)K23NS112463 · NINDS · UNIVERSITY OF ROCHESTER · PI KVALSUND, MICHELLE POWELL · 2020 to 2024
$925kMedical Research Council MR/S005021/1NHGRI NIH HHS UM1 HG008900NINDS NIH HHS K23 NS112463Wellcome Trust
Abstract
A newly identified subtype of hereditary axonal motor neuropathy, characterized by early proximal limb involvement, has been discovered in a cohort of 34 individuals with biallelic variants in von Willebrand factor A domain-containing 1 (
Indexed as
neuromuscular disordersneuromyopathyrecessive disordersVWA1
Identifiers
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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.