Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality

Journal:

Nature Communications

Published:

2026-04-15

DOI:

10.1038/s41467-026-71351-w

Affiliations:

60

Authors:

93

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Institutions	Authors	Share
UCL Queen Square Institute of Neurology, United Kingdom (UK)	17.333333 17.333333	0.19
Brain and Spine Institute (ICM), France	8.000000	0.09
Li Ka Shing Faculty of Medicine, HKU, China	4.500000	0.05
The Rockefeller University, United States of America (USA)	4.000000	0.04
MRC Protein Phosphorylation and Ubiquitylation Unit (PPU), University of Dundee, United Kingdom (UK)	4.000000	0.04
IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Italy	3.000000	0.03
Centogene AG, Germany	3.000000	0.03
Istanbul University, Turkey	3.000000	0.03
University of Tübingen (Uni Tübingen), Germany	2.500000	0.03
NIH National Institute on Aging (NIA), United States of America (USA)	2.500000	0.03
Children's Hospital and the Institute of Child Health, Pakistan	2.500000	0.03
University of Child Health Sciences Lahore, Pakistan	2.500000	0.03
Medical University of Innsbruck (MUI), Austria	2.500000	0.03
IRCCS Istituto delle Scienze Neurologiche di Bologna (ISNB), Italy	2.000000	0.02
Erasmus University Medical Center (Erasmus MC), Netherlands	2.000000	0.02
Koç University (KU), Turkey	2.000000	0.02
Hacettepe University, Turkey	2.000000	0.02
Technical University of Munich (TUM), Germany	1.666667	0.02
University Medical Center Göttingen (UMG), Germany	1.000000	0.01
IRCCS Istituto Giannina Gaslini, Italy	1.000000	0.01
University of Bologna (UNIBO), Italy	1.000000	0.01
University of Verona (UNIVR), Italy	1.000000	0.01
University Clinical Centre of Serbia, Serbia	1.000000	0.01
Azienda Usl di Reggio Emilia - IRCCS, Italy	1.000000	0.01
Ospedale di Carpi, Italy	1.000000	0.01
Hospital Ruber Internacional, Spain	1.000000	0.01
Istanbul University Cerrahpaşa (IUC), Turkey	1.000000	0.01
Nisantasi University, Turkey	1.000000	0.01
University of Zagreb, Croatia	1.000000	0.01
Galilee Medical Center (GMC), Israel	1.000000	0.01
Albashir University Hospital, Jordan	1.000000	0.01
Philadelphia University, Jordan	1.000000	0.01
Prince Sultan Military Medical City, Saudi Arabia	1.000000	0.01
Royal Devon University Healthcare NHS Foundation Trust, United Kingdom (UK)	1.000000	0.01
All Wales Medical Genomics Service, United Kingdom (UK)	1.000000	0.01
Biomedical Research Networking Center on Neurodegenerative Diseases (CIBERNED), Spain	0.666667	0.01
Hong Kong Genome Institute (HKGI), China	0.500000	0.01
Royal Veterinary College, University of London (RVC), United Kingdom (UK)	0.500000	0.01
Haydarpasa Numune Training and Research Hospital, Turkey	0.500000	0.01
University of Health Sciences (SBU), Turkey	0.500000	0.01
Rambam Health Care Campus (RambamHCC), IIT, Israel	0.500000	0.01
Technion-Israel Institute of Technology (IIT), Israel	0.500000	0.01
The Francis Crick Institute, United Kingdom (UK)	0.500000	0.01
NIH Intramural Center for Alzheimer’s and Related Dementias (CARD), United States of America (USA)	0.500000	0.01
University of Göttingen, Germany	0.500000	0.01
Charité - University Medicine Berlin, Germany	0.500000	0.01
Complutense University of Madrid (UCM), Spain	0.333333	0.00
HM Hospitales, Spain	0.333333	0.00
San Pablo CEU University (USPCEU), Spain	0.333333	0.00
Helmholtz Zentrum München - German Research Center for Environmental Health (HMGU), Germany	0.333333	0.00

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