CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

Clara D.M. van Karnebeek(Amsterdam University Medical Centers), André B. P. Kuilenburg(Amsterdam University Medical Centers), Daria Riva(Fondazione IRCCS Istituto Neurologico Carlo Besta), Michèl A.A.P. Willemsen(Radboud University Nijmegen), Winfried Roseboom(IONICS Mass Spectrometry (Canada)), Frédéric M. Vaz(Netherlands Metabolomics Centre), Barbara Garavaglia, Jeroen Roelofsen(Amsterdam University Medical Centers), Robin van der Lee(Radboud University Nijmegen), Riekelt H. Houtkooper(Amsterdam University Medical Centers), Gertjan Kramer(University of Amsterdam), Maja Tarailo‐Graovac(Alberta Children's Hospital), Bauke V. Schomakers(Netherlands Institute for Neuroscience), David A. Dyment(Children's Hospital of Eastern Ontario), Vishal Saxena(Brigham and Women's Hospital), Wyeth W. Wasserman(University of British Columbia), Britt I. Drögemöller(Children's Hospital Research Institute of Manitoba), Michel van Weeghel(Amsterdam University Medical Centers), Rutger Meinsma(Amsterdam University Medical Centers), Nicole N. van der Wel(Amsterdam UMC Location University of Amsterdam), Jason N. Berman(University of Ottawa), Colin J.D. Ross(BC Children's Hospital), Rebecca L. McIntyre(Amsterdam University Medical Centers), Jakub Kochan(Jagiellonian University), Izabella A. Pena(McGovern Institute for Brain Research), René Leen(Netherlands Metabolomics Centre), Mia L. Pras‐Raves(Amsterdam UMC Location University of Amsterdam), Marc Ekker(University of Ottawa), Sergey V. Prykhozhij(Agricultural Research Institute of Ontario), Solenne Correard(University of British Columbia), Sarah Schock(University of Ottawa), Doreen Dobritzsch(Uppsala University), Bernhard Weschke(Charité - Universitätsmedizin Berlin), Jan B. van Klinken, Lida Zoetekouw(Amsterdam University Medical Centers), John B. Moeschler(Dartmouth–Hitchcock Medical Center), Judith Jansen-Meijer(Amsterdam University Medical Centers), Philippe Labrune(Université Paris-Sud), Kevin Ban, James J. Filiano(Dartmouth–Hitchcock Medical Center), Yorrick Jaspers(Amsterdam University Medical Centers), Carlos R. Ferreira(National Institutes of Health), Anita E. Grootemaat(Amsterdam UMC Location University of Amsterdam)
Genetics in Medicine
February 24, 2024
Cited by 13


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