OSCR

Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.

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Authors: Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia
and 40 other authorsAmbreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean-François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad Alajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmuller, Sahar I Da’as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan S Alkuraya, Gaël Nicolas, SYNaPS Study Group, Thomas Arnesen, Henry Houlden
Published: 13 March 2024
Type: Research article
License: CC BY
Institutions: Nicolae Testemițanu State University of Medicine and Pharmacy (Moldova), UCL Queen Square Institute of Neurology (United Kingdom), University College London (United Kingdom), University of Bergen (Norway), Yale University (United States), Inserm (France), Université Paris Cité (France), Institut des Maladies Génétiques Imagine (France), Hospices Civils de Lyon (France), Université de Rouen Normandie (France), South Kazakhstan Medical Academy (Kazakhstan), Consejo Nacional de Investigaciones Científicas y Técnicas (Argentina), Austral University (Argentina), Hospital Universitario Austral (Argentina), Alexandria University (Egypt), Centre for Human Genetics (United Kingdom), Centre National de la Recherche Scientifique (France), Université de Montpellier (France), Institut de Recherche en Infectiologie de Montpellier (France), Queen's University (Canada), Autism & Developmental Medicine Institute (United States), Kingston Health Sciences Centre (Canada), Commissariat à l'Énergie Atomique et aux Énergies Alternatives (France), Université Paris-Saclay (France), Centre National de Recherche en Génomique Humaine (France), Institut de génétique et de biologie moléculaire et cellulaire (France), Hôpitaux Universitaires de Strasbourg (France), Université de Strasbourg (France), Universitätsmedizin Göttingen (Germany), King Faisal Specialist Hospital & Research Centre (Saudi Arabia), Dicle University (Türkiye), Centogene (Germany) (Germany), Inonu University (Türkiye), Dokuz Eylül University (Türkiye), University of Ottawa (Canada), University of Freiburg (Germany), Children's Hospital of Eastern Ontario (Canada), Ottawa Hospital (Canada), University Medical Center Freiburg (Germany), uOttawa Brain and Mind Research Institute (Canada), Sidra Medical and Research Center (Qatar), Hamad bin Khalifa University (Qatar), Weill Cornell Medical College in Qatar (Qatar), Universidad de Murcia (Spain), National Hospital for Neurology and Neurosurgery (United Kingdom), University of Cambridge (United Kingdom), University of California San Diego (United States), St George's Hospital (United Kingdom), St George's, University of London (United Kingdom), Institute of Genetics and Cancer (United Kingdom), MRC Human Genetics Unit (United Kingdom), University of Edinburgh (United Kingdom), Alfaisal University (Saudi Arabia), Haukeland University Hospital (Norway)

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