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Bi-allelic Mutations in EPRS,Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase,Cause a Hypomyelinating Leukodystrophy
Authors:Marisa I. Mendes  Mariana Gutierrez Salazar  Kether Guerrero  Isabelle Thiffault  Gajja S. Salomons  Laurence Gauquelin  Luan T. Tran  Diane Forget  Marie-Soleil Gauthier  Quinten Waisfisz  Desiree E.C. Smith  Cas Simons  Marjo S. van der Knaap  Iris Marquardt  Aida Lemes  Hanna Mierzewska  Bernhard Weschke  Wolfgang Koehler  Geneviève Bernard
Affiliation:1. Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, and Amsterdam Neuroscience Amsterdam, 1081 HZ Amsterdam, the Netherlands;2. Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, QC H4A 3J1, Canada;3. Translational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montreal, QC H2W 1R7, Canada;4. Center for Pediatric Genomic Medicine, Children’s Mercy Hospital, Kansas City, MO 64108, USA;5. Department of Neurology and Neurosurgery, McGill University, Montreal, QC H4A 3J1, Canada;6. Department of Pediatrics, McGill University, Montreal, QC H4A 3J1, Canada;7. Department of Clinical Genetics, VU University Medical Center, 1081 HZ Amsterdam, the Netherlands;8. Institute for Molecular Bioscience, University of Queensland, St. Lucia, QLD 4072, Australia;9. Murdoch Children’s Research Institute, The Royal Children’s Hospital, Parkville, VIC 3052, Australia;10. Department of Child Neurology, VU University Medical Center, and Amsterdam Neuroscience, 1081 HZ Amsterdam, the Netherlands;11. Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, 1081 HZ Amsterdam, the Netherlands;12. Department of Neuropediatrics, Center for Child and Adolescent Medicine, Oldenburg Hospital, 26131 Oldenburg, Germany;13. Inborn Errors of Metabolism Unit, National Reference Center of Congenital Defects and Rare Diseases, 11200 Montevideo, Uruguay;14. Department of Child and Adolescent Neurology, Institute of Mother and Child, Warsaw, Poland;15. Department of Pediatric Neurology, Center for Chronically Sick Children, Charité University Medicine Berlin, Berlin, Germany;16. Department of Neurology, University Medical Center, Leipzig, Germany;17. Department of Biochemistry, Université de Montréal, Montreal, QC H3T 1J4, Canada;18. Department of Medical Genetics, Montreal Children’s Hospital, McGill University Health Center, Montreal, QC H4A 3J1, Canada
Abstract:
Keywords:hypomyelinating leukodystrophy  tRNA-synthetase  Corresponding author
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