Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson’s disease to perinatal lethality and disrupt mitochondrial function
Francesca Magrinelli(National Hospital for Neurology and Neurosurgery), Güneş Kızıltan(Western Galilee Hospital), Annarita Scardamaglia(Queen Mary University of London), Michèle Tinazzi(University of Verona), Marlène Cassar(Oregon Health & Science University), Marina Svetel(Centre National de la Recherche Scientifique), Stéphanie Efthymiou(Queen Mary University of London), Paweł Lis(University of Dundee), Brian Hon‐Yin Chung(Long Island Jewish Medical Center), Mónica Kurtis(Chinese University of Hong Kong), Bedia Samancı(Koç University), Anna Ka‐Yee Kwong(University of Dundee), Başar Bılgıç(Istanbul University), Haşmet Hanağası(Istanbul University), Noemí Esteras(Universidad Complutense de Madrid), Barbara Vona(Broad Institute), Matthew Jaconelli(University of Dundee), Clarissa Rocca(Institute of Human Genetics), David Murphy(National Hospital for Neurology and Neurosurgery), Thomas Courtin(Sorbonne Université), Mary B. Makarious(National Institutes of Health), Guido J. Breedveld(SUNY Upstate Medical University), Christelle Tesson(Centre National de la Recherche Scientifique), Sana Iftikhar(Centogene (Germany)), Linda Sofan(Philadelphia University), Martin Man Chun Chui(Centre National de la Recherche Scientifique), Mariasavina Severino(Istituto Giannina Gaslini), Benjamin O’Callaghan(National Hospital for Neurology and Neurosurgery), José Á. Obeso(Biomedical Research Networking Center on Neurodegenerative Diseases), Rebecca Buchert(Institute of Human Genetics), Guillaume Cogan(Centre National de la Recherche Scientifique), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Shahryar Alavi(National Hospital for Neurology and Neurosurgery), Peter Bauer(Centogene (Germany)), Vanessa Pitz(National Institutes of Health), Plamena R. Angelova(National Hospital for Neurology and Neurosurgery), Chloé Pinon(Centre National de la Recherche Scientifique), Ainara Salazar‐Villacorta(University of Dundee), José Antonio Rodríguez Rodríguez(National Hospital for Neurology and Neurosurgery), Patrick A. Lewis(National Hospital for Neurology and Neurosurgery), Bassem A. Hassan(Centre National de la Recherche Scientifique), Raja Sekhar Nirujogi(University of Dundee)
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