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

F Francesca Magrinelli C Christelle Tesson P Plamena R. Angelova J Jose A. Rodriguez A Annarita Scardamaglia B Benjamin O’Callaghan S Simon A. Lowe A Ainara Salazar-Villacorta B Brian Hon-Yin Chung M Matthew Jaconelli B Barbara Vona N Noemi Esteras A Angela Mammana J Junko Shimazu A Anna Ka-Yee Kwong T Thomas Courtin S Shahryar Alavi R Reza Maroofian R Raja Nirujogi M Mariasavina Severino E Edoardo Monfrini C Clarissa Rocca P Patrick A. Lewis S Stephanie Efthymiou R Rebecca Buchert L Linda Sofan P Pawel Lis (Medical Research Council Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee) C Chloé Pinon G Guido J. Breedveld M Martin Man-Chun Chui D David Murphy V Vanessa Pitz M Mary B. Makarious S Simone Baiardi M Marina Volin M Marlene Cassar B Bassem A. Hassan S Sana Iftikhar P Peter Bauer M Michele Tinazzi (Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona) M Marina Svetel B Bedia Samanci H Haşmet A. Hanağası B Basar Bilgiç F Francesco Cavallieri M Mario Santangelo J José A. Obeso M Monica M. Kurtis G Guillaume Cogan G Güneş Kiziltan T Tuğçe Gül-Demirkale H Hülya Tireli G Gülbün A. Yüksel G Gül Yalçın-Cakmakli B Bülent Elibol N Nina Barišić E Earny Wei-Sen Ng S Sze-Shing Fan T Tova Hershkovitz K Karin Weiss J Javeria Raza Alvi T Tipu Sultan I Issam Azmi Alkhawaja T Tawfiq Froukh H Hadeel Abdollah E. Alrukban M Muhammad Nadeem Anjum A Anjum Saeed H Huma Arshad Cheema C Christine Fauth U Ulrich A. Schatz T Thomas Zöggeler M Michael Zech K Karen Stals V Vinod Varghese S Sonia Gandhi C Cornelis Blauwendraat J John A. Hardy A Alessio Di Fonzo V Vincenzo Bonifati T Tobias B. Haack A Aida M. Bertoli-Avella S Suzanne Lesage A Ayşe Nazlı Başak R Robert Steinfeld P Piero Parchi J James E. C. Jepson D Dario R. Alessi A Alexis Brice H Hermann Steller (Strang Laboratory of Apoptosis and Cancer Biology, The Rockefeller University) A Andrey Y. Abramov K Kailash P. Bhatia H Henry Houlden