Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores
Year: 2020
Type: article
Authors: Sandra Donkervoort, Carl E. Kutzner, Ying Hu, Xavière Lornage, John Rendu, Tanya Stojkovic, Jonathan Baets, Sarah B. Neuhaus, Jantima Tanboon, Reza Maroofian, Véronique Bolduc, Magdalena Mroczek, Stefan Conijn, Nancy L. Kuntz, Ana Töpf, Soledad Monges, Fabiana Lubieniecki, Riley M. McCarty, Katherine R. Chao, Serena Governali, Johann Böhm, Kanokwan Boonyapisit, Edoardo Malfatti, Tumtip Sangruchi, Iren Horkayne-Szakaly, Carola Hedberg-Oldfors, Stephanie Efthymiou, Satoru Noguchi, Sarah Djeddi, Aritoshi Iida, Gabriella di Rosa, Chiara Fiorillo, Vincenzo Salpietro, Niklas Darin, Julien Fauré, Henry Houlden, Anders Oldfors, Ichizo Nishino, Willem de Ridder, Volker Straub, Wojciech Pokrzywa, Jocelyn Laporte, A. Reghan Foley, Norma B. Romero, Coen Ottenheijm, Thorsten Hoppe, Carsten G. Bönnemann
Institutions: National Institutes of Health, National Institute of Neurological Disorders and Stroke, University of Cologne, Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases, Centre National de la Recherche Scientifique, Inserm, Institut de génétique et de biologie moléculaire et cellulaire, Université de Strasbourg, Centre Hospitalier Universitaire de Grenoble, Grenoble Institute of Neurosciences, Université Grenoble Alpes, Sorbonne Université, Assistance Publique – Hôpitaux de Paris, Institut de Myologie, Pitié-Salpêtrière Hospital, University of Antwerp, Antwerp University Hospital, Institute Born-Bunge, Siriraj Hospital, Mahidol University, National Center of Neurology and Psychiatry, National Institute of Neuroscience, National Hospital for Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, University College London, Newcastle University, Amsterdam UMC Location Vrije Universiteit Amsterdam, Northwestern University, Garrahan Hospital, Broad Institute, Hôpital Raymond-Poincaré, Defense Health Agency, Joint Pathology Center, University of Gothenburg, Medical Genome Center, National Center of Neurology and Psychiatry, University of Messina, Istituto Giannina Gaslini, University of Genoa, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Institute of Molecular and Cell Biology, Centre de Recherche en Myologie, Université Pierre-et-Marie-Curie, University of Arizona
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: bronze
Funders: Association Belge contre les Maladies Neuro-Musculaires, Dana-Farber Cancer Institute, Japan Agency for Medical Research and Development, Wellcome Trust, Fondation Maladies Rares, National Institute for Health and Care Research, University College London, Deutsche Forschungsgemeinschaft, Agence Nationale de la Recherche, Fonds Wetenschappelijk Onderzoek, University of Tokushima, Vlaamse regering, National Institutes of Health, National Institute of Neurological Disorders and Stroke, National Center for Research Resources
Award: G2101252553
OpenAlex ID: W3098447019