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J-GLOBAL ID：201902200008125587   Reference number：19S0459677

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

Author (39)： Brea-Calvo, Gloria (Centro Andaluz de Biología Del Desarrollo, Universidad Pablo de Olavide, Investigación Biomédica en Red de Enfermedades Raras) ,  Navas, Placido (Centro Andaluz de Biología Del Desarrollo, Universidad Pablo de Olavide, Investigación Biomédica en Red de Enfermedades Raras) ,  Haack, Tobias B. (Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health) ,  Haack, Tobias B. (Institute of Human Genetics, Technische Universität München) ,  Kremer, Laura (Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health) ,  Kremer, Laura (Institute of Human Genetics, Technische Universität München) ,  Graf, Elisabeth (Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health) ,  Graf, Elisabeth (Institute of Human Genetics, Technische Universität München) ,  Ahting, Uwe (Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health) ,  Ahting, Uwe (Institute of Human Genetics, Technische Universität München) ,  Strom, Tim M. (Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health) ,  Strom, Tim M. (Institute of Human Genetics, Technische Universität München) ,  Meitinger, Thomas (Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health) ,  Meitinger, Thomas (Institute of Human Genetics, Technische Universität München) ,  Prokisch, Holger (Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health) ,  Prokisch, Holger (Institute of Human Genetics, Technische Universität München) ,  Karall, Daniela (Clinic for Pediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck) ,  Scholl-Bürgi, Sabine (Clinic for Pediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck) ,  Ohtake, Akira (Department of Pediatrics, Faculty of Medicine, Saitama Medical University) ,  Invernizzi, Federica (Unit of Molecular Neurogenetics, Foundation of the Carlo Besta Neurological Institute, Istituto di Ricovero e Cura A Carettere Scientifico) ,  Dusi, Sabrina (Unit of Molecular Neurogenetics, Foundation of the Carlo Besta Neurological Institute, Istituto di Ricovero e Cura A Carettere Scientifico) ,  Lamperti, Costanza (Unit of Molecular Neurogenetics, Foundation of the Carlo Besta Neurological Institute, Istituto di Ricovero e Cura A Carettere Scientifico) ,  Ghezzi, Daniele (Unit of Molecular Neurogenetics, Foundation of the Carlo Besta Neurological Institute, Istituto di Ricovero e Cura A Carettere Scientifico) ,  Carrozzo, Rosalba (Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital) ,  Verrigni, Daniela (Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital) ,  Bertini, Enrico (Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital) ,  Fauth, Christine (Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck) ,  Resta, Nicoletta (Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology, University of Bari Aldo Moro) ,  Laforgia, Nicola (Neonatology and Neonatal Intensive Care Unit, Department of Biomedical Sciences and Human Oncology, University of Bari Aldo Moro) ,  Okazaki, Yasushi (Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University) ,  Okazaki, Yasushi (Division of Functional Genomics and Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University) ,  Kohda, Masakazu (Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University) ,  Martinelli, Diego (Unit of Metabolism, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura A Carettere Scientifico) ,  Freisinger, Peter (Department of Pediatrics, Klinikum Reutlingen) ,  Lacson, Atilano (Walter Mackenzie Health Sciences Centre) ,  Mayr, Johannes A. (Department of Pediatrics, Paracelsus Medical University Salzburg) ,  Murayama, Kei (Department of Metabolism, Chiba Children's Hospital) ,  Murayama, Kei (Chiba Cancer Center Research Institute) ,  Zeviani, Massimo (Mitochondrial Biology Unit, Medical Research Council)
Material： American Journal of Human Genetics
Volume： 96  Issue： 2  Page： 309-317  Publication year： 2015 
JST Material Number： SCOPUS  ISSN： 0002-9297  CODEN： AJHGA 
Country of issue： United States (USA)  Language： English (EN)

Terms in the title (1)： CoQ10