ArticlemedRxiv : the preprint server for health sciences2025
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.
Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–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
1 citing paper in PubMed, 1 synthesis or guideline pooled it.
Francesca MagrinelliDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.ORCID 0000-0003-4706-6245
Christelle TessonInstitut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France.ORCID 0000-0001-7589-3710
Plamena R AngelovaDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.ORCID 0000-0003-4596-9117
Jose A RodriguezStrang Laboratory of Apoptosis and Cancer Biology, The Rockefeller University, New York, NY, USA.ORCID 0009-0000-1813-1103
Annarita ScardamagliaDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.ORCID 0009-0007-6013-4819
Benjamin O'CallaghanDepartment of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.ORCID 0000-0002-1323-6843
Simon A LoweDepartment of Epilepsy, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.ORCID 0000-0003-0607-0934
Ainara Salazar-VillacortaDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.ORCID 0000-0002-5753-2687
Brian Hon-Yin ChungDepartment of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.ORCID 0000-0002-7044-5916
Matthew JaconelliMedical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom.ORCID 0009-0003-1536-435X
Barbara VonaInstitute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.ORCID 0000-0002-6719-3447
Noemi EsterasDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.ORCID 0000-0002-7938-6131
Angela MammanaIRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.ORCID 0000-0002-3306-8365
Junko ShimazuStrang Laboratory of Apoptosis and Cancer Biology, The Rockefeller University, New York, NY, USA.ORCID 0000-0002-8705-6757
Anna Ka-Yee KwongDepartment of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.ORCID 0000-0001-5133-1019
Thomas CourtinInstitut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France.ORCID 0000-0002-0275-2498
Shahryar AlaviDepartment of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.ORCID 0000-0002-3484-3423
Reza MaroofianDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.ORCID 0000-0001-6763-1542
Raja NirujogiMedical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom.ORCID 0000-0002-3177-8566
Mariasavina SeverinoNeuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.ORCID 0000-0003-4730-5322
Edoardo MonfriniNeurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122, Milan, Italy.
Clarissa RoccaDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.ORCID 0000-0003-3233-5529
Patrick A LewisDepartment of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.ORCID 0000-0003-4537-0489
Stephanie EfthymiouDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.ORCID 0000-0003-4900-9877
Rebecca BuchertInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.ORCID 0000-0001-7576-3326
Linda SofanInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.ORCID 0009-0005-9233-4458
Pawel LisMedical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom.ORCID 0000-0002-4978-7671
Chloé PinonInstitut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France.ORCID 0009-0007-0959-4705
Guido J BreedveldDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.ORCID 0000-0002-4392-5906
Martin Man-Chun ChuiDepartment of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.ORCID 0000-0003-0508-3055
David MurphyDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.ORCID 0000-0002-3771-3800
Vanessa PitzIntegrative Neurogenomics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-2964-5553
Mary B MakariousLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-7978-1051
Simone BaiardiIRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.ORCID 0000-0002-7702-7856
Marina VolinStrang Laboratory of Apoptosis and Cancer Biology, The Rockefeller University, New York, NY, USA.ORCID 0000-0003-1978-133X
Marlene CassarInstitut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France.ORCID 0000-0003-1500-8868
Bassem A HassanInstitut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France.ORCID 0000-0001-9533-4908
Sana IftikharDepartment of Real-World evidence studies, CENTOGENE GmbH, Rostock, Germany.ORCID 0009-0000-0186-5434
Peter BauerDepartment of Medical Genetics, CENTOGENE GmbH, Rostock, Germany.ORCID 0000-0001-9414-4555
Michele TinazziDepartment of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.ORCID 0000-0002-2370-7063
Marina SvetelMovement Disorders Department, Neurology Clinic, University Clinical Center of Serbia, Belgrade, Serbia.ORCID 0000-0003-4900-4865
Bedia SamanciBehavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.ORCID 0000-0003-0667-2329
Haşmet A HanağasıBehavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.ORCID 0000-0002-4624-4428
Basar BilgiçBehavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.ORCID 0000-0001-6032-0856
Francesco CavallieriNeurology Unit, Neuromotor and Rehabilitation Department, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.ORCID 0000-0001-5836-1982
Mario SantangeloDepartment of Neurology, Carpi Hospital, Carpi (MO), Italy.ORCID 0000-0001-9152-9265
José A ObesoCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, Madrid, Spain.ORCID 0000-0002-6996-8613
Monica M KurtisNeurology Department, Hospital Ruber Internacional, Madrid, Spain.ORCID 0000-0003-3037-9712
Guillaume CoganInstitut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France.ORCID 0000-0003-3505-7114
Güneş KiziltanDepartment of Neurology, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey.ORCID 0000-0001-9284-198X
Tuğçe Gül-DemirkaleResearch Center for Translational Medicine - Neurodegeneration Research Laboratory (KUTTAM-NDAL), School of Medicine, Koç University, Istanbul, Turkey.ORCID 0000-0002-1818-9839
Hülya TireliVocational School, İstanbul Nisantasi University, Istanbul, Turkey.ORCID 0000-0002-7062-0227
Gülbün A YükselDepartment of Neurology, Haydarpasa Numune Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.ORCID 0000-0003-3288-4026
Gül Yalçın-CakmakliDepartment of Neurology, School of Medicine, Hacettepe University, Ankara, Turkey.ORCID 0000-0001-8545-7939
Bülent ElibolDepartment of Neurology, School of Medicine, Hacettepe University, Ankara, Turkey.ORCID 0000-0001-5015-0152
Nina BarišićUniversity of Zagreb Medical School, Department of Pediatric Clinical Medical Centre Split, Polyclinic Aviva Zagreb, Croatia.ORCID 0000-0002-8839-1522
Earny Wei-Sen NgDepartment of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.ORCID 0009-0005-1492-6044
Sze-Shing FanDepartment of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.ORCID 0009-0007-9143-788X
Tova HershkovitzThe Genetics Institute, Galilee Medical Center, Nahariya, Israel.ORCID 0009-0008-1755-003X
Javeria Raza AlviDepartment of Paediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab, Pakistan.ORCID 0000-0002-3452-1862
Tipu SultanDepartment of Paediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab, Pakistan.ORCID 0000-0001-9398-2127
Sonia GandhiDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.ORCID 0000-0003-4395-2661
Cornelis BlauwendraatIntegrative Neurogenomics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0001-9358-8111
John A HardyDepartment of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.ORCID 0000-0002-3122-0423
Alessio Di FonzoNeurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122, Milan, Italy.ORCID 0000-0001-6478-026X
Vincenzo BonifatiDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.ORCID 0000-0002-9334-1263
Tobias B HaackInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.ORCID 0000-0001-6033-4836
Aida M Bertoli-AvellaDepartment of Medical Genetics, CENTOGENE GmbH, Rostock, Germany.ORCID 0000-0001-9544-1877
Suzanne LesageInstitut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France.ORCID 0000-0003-4158-2601
Ayşe Nazlı BaşakResearch Center for Translational Medicine - Neurodegeneration Research Laboratory (KUTTAM-NDAL), School of Medicine, Koç University, Istanbul, Turkey.ORCID 0000-0001-6977-2517
Robert SteinfeldDepartment of Pediatrics and Pediatric Neurology, University of Göttingen, Göttingen, Germany.ORCID 0000-0003-0956-6601
Piero ParchiIRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.ORCID 0000-0002-9444-9524
James E C JepsonDepartment of Epilepsy, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.ORCID 0000-0002-3357-2801
Dario R AlessiMedical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom.ORCID 0000-0002-2140-9185
PSMF1 Study Group
Alexis BriceInstitut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France.ORCID 0000-0002-0941-3990
Hermann StellerStrang Laboratory of Apoptosis and Cancer Biology, The Rockefeller University, New York, NY, USA.ORCID 0000-0002-4577-4507
Andrey Y AbramovDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.ORCID 0000-0002-7646-7235
Kailash P BhatiaDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.ORCID 0000-0001-8185-286X
Henry HouldenDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.ORCID 0000-0002-2866-7777
Funding
Wellcome Trust
6 · The paper itself
Abstract
Dissecting biological pathways highlighted by Mendelian gene discovery has provided critical insights into the pathogenesis of Parkinson's disease (PD) and neurodegeneration. This approach ultimately catalyzes the identification of potential biomarkers and therapeutic targets. Here, we identify
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.
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function. · full record | OpenQuestion