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Clinical,biochemical, and genetic features associated with VARS2‐related mitochondrial disease
Authors:Emanuele Bellacchio  Bryn D Webb  Robert McFarland  Zofia MA Chrzanowska‐Lightowlers  Langping He  Ewa Skorupa  Isabella Moroni  Anna Ardissone  Anna Walczak  Henna Tyynismaa  Pirjo Isohanni  Hanna Mandel  Holger Prokisch  Tobias Haack  Penelope E Bonnen  Bertini Enrico  Ewa Pronicka  Daniele Ghezzi  Daria Diodato
Institution:1. Genetics and Rare Diseases, Research Division, ‘Bambino Gesù’ Children Hospital, Rome, Italy;2. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York;3. Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, United Kingdom;4. Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children's Memorial Health Institute, Warsaw, Poland;5. Child Neurology Unit, Foundation IRCCS Neurological Institute “C. Besta”, Milan, Italy;6. Molecular Neurogenetics Unit, Foundation IRCCS Neurological Institute C. Besta, Milan, Italy;7. Department of Molecular and Translational Medicine DIMET, University of Milan‐Bicocca, Milan, Italy;8. Department of Medical Genetics, Centre of Biostructure, Medical University of Warsaw, Warsaw, Poland;9. Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland;10. Department of Pediatric Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland;11. Institute of Human Genetics and Metabolic Diseases, Galilee Medical Center, Nahariya, Israel;12. Institute of Human Genetics, Technische Universit?t München, Munich, Germany;13. Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany;14. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas;15. Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, ‘Bambino Ges.’ Children's Research Hospital, Rome, Italy;16. Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland;17. Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy;18. Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, ‘Bambino Ges.’ Children's Research Hospital, Rome, ItalyFrancesco Bruni, Ivano Di Meo, Robert W. Taylor, and Daria Diodato contributed equally to this work.
Abstract:
Keywords:cardioencephalomyopathy  mitochondrial disorders  OXPHOS  VARS2
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