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Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.
Iuso, Arcangela; Wiersma, Marit; Schüller, Hans-Joachim; Pode-Shakked, Ben; Marek-Yagel, Dina; Grigat, Mathias; Schwarzmayr, Thomas; Berutti, Riccardo; Alhaddad, Bader; Kanon, Bart; Grzeschik, Nicola A; Okun, Jürgen G; Perles, Zeev; Salem, Yishay; Barel, Ortal; Vardi, Amir; Rubinshtein, Marina; Tirosh, Tal; Dubnov-Raz, Gal; Messias, Ana C; Terrile, Caterina; Barshack, Iris; Volkov, Alex; Avivi, Camilla; Eyal, Eran; Mastantuono, Elisa; Kumbar, Muhamad; Abudi, Shachar; Braunisch, Matthias; Strom, Tim M; Meitinger, Thomas; Hoffmann, Georg F; Prokisch, Holger; Haack, Tobias B; Brundel, Bianca J J M; Haas, Dorothea; Sibon, Ody C M; Anikster, Yair.
Afiliación
  • Iuso A; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; DZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, 80802 Munich, Germany.
  • Wiersma M; Department of Physiology, Amsterdam Cardiovascular Sciences, VUmc, 1081 HZ Amsterdam, the Netherlands.
  • Schüller HJ; Institut für Genetik und Funktionelle Genomforschung, Ernst-Moritz-Arndt Universität, 17489 Greifswald, Germany.
  • Pode-Shakked B; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Israel; The Dr. Pinchas Borenstein Talpiot Medical Leadership Program, Sheba Medical Center, 52621 Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Is
  • Marek-Yagel D; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel.
  • Grigat M; Institut für Genetik und Funktionelle Genomforschung, Ernst-Moritz-Arndt Universität, 17489 Greifswald, Germany.
  • Schwarzmayr T; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Berutti R; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Alhaddad B; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
  • Kanon B; Department of Cell Biology, University of Groningen, University Medical Center Groningen, 9713 AV Groningen, the Netherlands.
  • Grzeschik NA; Department of Cell Biology, University of Groningen, University Medical Center Groningen, 9713 AV Groningen, the Netherlands.
  • Okun JG; Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital, 69120 Heidelberg, Germany.
  • Perles Z; Department of Pediatric Cardiology, Hadassah-Hebrew University Medical Center, 91120 Jerusalem, Israel.
  • Salem Y; Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel; Pediatric Cardiology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Ramat Gan, Israel.
  • Barel O; Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel; Sheba Cancer Research Center, Sheba Medical Center, 52621 Tel-Hashomer, Israel.
  • Vardi A; Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel; Department of Pediatric Cardiac Intensive Care, Edmond Safra International Congenital Heart Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Israel.
  • Rubinshtein M; Department of Pediatric Critical Care Medicine, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Israel.
  • Tirosh T; Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel; Pediatric Cardiology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Ramat Gan, Israel.
  • Dubnov-Raz G; Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel; Exercise, Nutrition and Lifestyle clinic, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Israel.
  • Messias AC; Institute of Structural Biology, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Center for Integrated Protein Science Munich at Biomolecular NMR Spectroscopy, Department Chemistry, Technische Universität München, 85747 Garching, Germany.
  • Terrile C; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Barshack I; Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel; Department of Pathology, Sheba Medical Center, 52621 Tel-Hashomer, Israel.
  • Volkov A; Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel; Department of Pathology, Sheba Medical Center, 52621 Tel-Hashomer, Israel.
  • Avivi C; Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel; Department of Pathology, Sheba Medical Center, 52621 Tel-Hashomer, Israel.
  • Eyal E; Sheba Cancer Research Center, Sheba Medical Center, 52621 Tel-Hashomer, Israel.
  • Mastantuono E; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Kumbar M; Clalit Health Services, 93133 Jerusalem, Israel.
  • Abudi S; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel.
  • Braunisch M; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Department of Nephrology, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany.
  • Strom TM; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Meitinger T; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; DZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, 80802 Munich, Germany.
  • Hoffmann GF; Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital, 69120 Heidelberg, Germany.
  • Prokisch H; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Haack TB; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
  • Brundel BJJM; Department of Physiology, Amsterdam Cardiovascular Sciences, VUmc, 1081 HZ Amsterdam, the Netherlands.
  • Haas D; Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital, 69120 Heidelberg, Germany. Electronic address: dorothea.haas@med.uni-heidelberg.de.
  • Sibon OCM; Department of Cell Biology, University of Groningen, University Medical Center Groningen, 9713 AV Groningen, the Netherlands.
  • Anikster Y; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel; The Wohl Institute for Translational Medicine, Sheba Medical Center, 52621 Tel-Hashomer, Israel. Electronic
Am J Hum Genet ; 102(6): 1018-1030, 2018 06 07.
Article en En | MEDLINE | ID: mdl-29754768
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Péptido Sintasas / Cardiomiopatía Dilatada / Genes Recesivos / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Animals / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Año: 2018 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Péptido Sintasas / Cardiomiopatía Dilatada / Genes Recesivos / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Animals / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Año: 2018 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos