Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
Viorica Chelban(School of the Art Institute of Chicago), Nicholas Wood(National Hospital for Neurology and Neurosurgery), Annarita Scardamaglia(Queen Mary University of London), Rauan Kaiyrzhanov(National Hospital for Neurology and Neurosurgery), Sandrine Tury(Centre National de la Recherche Scientifique), Kirsten Brønstad(University of Bergen), Lucía Schottlaender(School of the Art Institute of Chicago), Serdal Güngör(Inonu University), Robert Olaso(University of Bonn), Giovanni Zifarelli(Centogene (Germany)), Khalid A. Fakhro(Qatar Airways (Qatar)), Nina Glomnes(University of Bergen), Juan A. Botía(University College London), Stéphanie Efthymiou(Queen Mary University of London), Sahar Da’as(Hamad bin Khalifa University), Jean‐Luc Battini(Centre National de la Recherche Scientifique), Barbara Vona(Broad Institute), Benjamin Cretin(International Space University), Luís Seabra(Inserm), David Murphy(National Hospital for Neurology and Neurosurgery), Antoine Bonnevalle(Inserm), Perrine Devic(Hospices Civils de Lyon), M. Natalia Zanetti(Epilepsy Research UK), Olivier Quenez(Inserm), Jean‐François Deleuze(Commissariat à l'Énergie Atomique et aux Énergies Alternatives), Alistair T. Pagnamenta(University College London), Rojan İpek(Dicle University), Jana Vandrovcová(National Hospital for Neurology and Neurosurgery), Hanns Lochmüller(Muscular Dystrophy UK), Anne Boland(Commissariat à l'Énergie Atomique et aux Énergies Alternatives), Fahad Al-Ajlan(King Faisal Specialist Hospital & Research Centre), Hanan E. Shamseldin(King Faisal Specialist Hospital & Research Centre), Anne‐Claire Richard(Inserm), Alicia Gómez-Pascual(Universidad de Murcia), Andrés Moreno-De-Luca(Autism & Developmental Medicine Institute), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Lauren C. LaMonica(Yale University), Semra Hız Kurul(Dokuz Eylül University), Peter Bauer(Centogene (Germany)), Mathieu Anheim(Centre National de la Recherche Scientifique), Ajia Pennavaria(University of Bergen), Liv S Krogstad(University of Bergen), Åse K. Bekkelund(University of Bergen), Alessia Caiella(University of Bergen), Anette Siggervåg(University of Bergen), Vincenzo Salpietro(University College London), Heba Morsy(National Hospital for Neurology and Neurosurgery), Firdous Abdulwahab(King Faisal Specialist Hospital & Research Centre), Henriette Aksnes(University of Bergen)
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