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Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.
Dusi, Sabrina; Valletta, Lorella; Haack, Tobias B; Tsuchiya, Yugo; Venco, Paola; Pasqualato, Sebastiano; Goffrini, Paola; Tigano, Marco; Demchenko, Nikita; Wieland, Thomas; Schwarzmayr, Thomas; Strom, Tim M; Invernizzi, Federica; Garavaglia, Barbara; Gregory, Allison; Sanford, Lynn; Hamada, Jeffrey; Bettencourt, Conceição; Houlden, Henry; Chiapparini, Luisa; Zorzi, Giovanna; Kurian, Manju A; Nardocci, Nardo; Prokisch, Holger; Hayflick, Susan; Gout, Ivan; Tiranti, Valeria.
Afiliación
  • Dusi S; Unit of Molecular Neurogenetics - Pierfranco and Luisa Mariani Center for the study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute "C. Besta," 20126 Milan, Italy.
  • Valletta L; Unit of Molecular Neurogenetics - Pierfranco and Luisa Mariani Center for the study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute "C. Besta," 20126 Milan, Italy.
  • Haack TB; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Munich, Germany.
  • Tsuchiya Y; Institute of Structural and Molecular Biology, University College London, London WC1E 6BT, UK.
  • Venco P; Unit of Molecular Neurogenetics - Pierfranco and Luisa Mariani Center for the study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute "C. Besta," 20126 Milan, Italy.
  • Pasqualato S; Crystallography Unit, Department of Experimental Oncology, European Institute of Oncology, IFOM-IEO Campus, 20139 Milan, Italy.
  • Goffrini P; Department of Life Sciences, University of Parma, 43124 Parma, Italy.
  • Tigano M; Department of Life Sciences, University of Parma, 43124 Parma, Italy.
  • Demchenko N; Institute of Structural and Molecular Biology, University College London, London WC1E 6BT, UK.
  • Wieland T; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Munich, Germany.
  • Schwarzmayr T; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Munich, Germany.
  • Strom TM; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Munich, Germany.
  • Invernizzi F; Unit of Molecular Neurogenetics - Pierfranco and Luisa Mariani Center for the study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute "C. Besta," 20126 Milan, Italy.
  • Garavaglia B; Unit of Molecular Neurogenetics - Pierfranco and Luisa Mariani Center for the study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute "C. Besta," 20126 Milan, Italy.
  • Gregory A; Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97329, USA.
  • Sanford L; Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97329, USA.
  • Hamada J; Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97329, USA.
  • Bettencourt C; UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
  • Houlden H; UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
  • Chiapparini L; Unit of Neuroradiology, IRCCS Foundation Neurological Institute "C. Besta," 20133 Milan, Italy.
  • Zorzi G; Unit of Child Neurology, IRCCS Foundation Neurological Institute "C. Besta," 20133 Milan, Italy.
  • Kurian MA; Neurosciences Unit, UCL-Institute of Child Health, Great Ormond Street Hospital, London WC1N 3JH, UK; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.
  • Nardocci N; Unit of Child Neurology, IRCCS Foundation Neurological Institute "C. Besta," 20133 Milan, Italy.
  • Prokisch H; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Munich, Germany.
  • Hayflick S; Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97329, USA.
  • Gout I; Institute of Structural and Molecular Biology, University College London, London WC1E 6BT, UK.
  • Tiranti V; Unit of Molecular Neurogenetics - Pierfranco and Luisa Mariani Center for the study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute "C. Besta," 20126 Milan, Italy. Electronic address: tiranti@istituto-besta.it.
Am J Hum Genet ; 94(1): 11-22, 2014 Jan 02.
Article en En | MEDLINE | ID: mdl-24360804
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Encéfalo / Exoma / Hierro / Degeneración Nerviosa Límite: Female / Humans / Male Idioma: En Año: 2014 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Encéfalo / Exoma / Hierro / Degeneración Nerviosa Límite: Female / Humans / Male Idioma: En Año: 2014 Tipo del documento: Article