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Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
Habarou, Florence; Hamel, Yamina; Haack, Tobias B; Feichtinger, René G; Lebigot, Elise; Marquardt, Iris; Busiah, Kanetee; Laroche, Cécile; Madrange, Marine; Grisel, Coraline; Pontoizeau, Clément; Eisermann, Monika; Boutron, Audrey; Chrétien, Dominique; Chadefaux-Vekemans, Bernadette; Barouki, Robert; Bole-Feysot, Christine; Nitschke, Patrick; Goudin, Nicolas; Boddaert, Nathalie; Nemazanyy, Ivan; Delahodde, Agnès; Kölker, Stefan; Rodenburg, Richard J; Korenke, G Christoph; Meitinger, Thomas; Strom, Tim M; Prokisch, Holger; Rotig, Agnes; Ottolenghi, Chris; Mayr, Johannes A; de Lonlay, Pascale.
Afiliación
  • Habarou F; Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, APHP, 75015 Paris, France; Metabolic Biochemistry, University Paris Descartes, Hospital Necker Enfants Malades, 75015 Paris, France.
  • Hamel Y; Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, APHP, 75015 Paris, France; UMR1163, University Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France.
  • 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.
  • Feichtinger RG; Department of Pediatrics, Paracelsus Medical University Salzburg, 5020 Salzburg, Austria.
  • Lebigot E; Department of Biochemistry, Hospital Bicêtre, APHP, 94270 Le Kremlin Bicêtre, France.
  • Marquardt I; Department of Neuropediatrics, Children's Hospital Klinikum Oldenburg, Oldenburg 26133, Germany.
  • Busiah K; Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, APHP, 75015 Paris, France.
  • Laroche C; Neurology Unit, Limoges Hospital, 87042 Limoges, France.
  • Madrange M; Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, APHP, 75015 Paris, France; UMR1163, University Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France.
  • Grisel C; Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, APHP, 75015 Paris, France.
  • Pontoizeau C; Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, APHP, 75015 Paris, France; Metabolic Biochemistry, University Paris Descartes, Hospital Necker Enfants Malades, 75015 Paris, France.
  • Eisermann M; Neurophysiology Unit, Hospital Necker Enfants Malades, APHP, 75015 Paris, France; INSERM U1129, Paris, France; Paris Descartes University; CEA, Gif sur Yvette; Paris, France.
  • Boutron A; Department of Biochemistry, Hospital Bicêtre, APHP, 94270 Le Kremlin Bicêtre, France.
  • Chrétien D; UMR1163, University Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France.
  • Chadefaux-Vekemans B; Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, APHP, 75015 Paris, France; Metabolic Biochemistry, University Paris Descartes, Hospital Necker Enfants Malades, 75015 Paris, France.
  • Barouki R; Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, APHP, 75015 Paris, France; Metabolic Biochemistry, University Paris Descartes, Hospital Necker Enfants Malades, 75015 Paris, France.
  • Bole-Feysot C; Genomic Core Facility, Imagine Institute, UMR1163, University Paris Descartes, 24 Boulevard du Montparnasse, 75015 Paris, France; Hospital Necker Enfants Malades, APHP, 75015 Paris, France.
  • Nitschke P; Paris Descartes Bioinformatic Platform, University Paris Descartes, Hospital Necker Enfants Malades, 75015 Paris, France.
  • Goudin N; Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, APHP, 75015 Paris, France; Neurophysiology Unit, Hospital Necker Enfants Malades, APHP, 75015 Paris, France; INSERM U1129, Paris, France; Paris Descartes University; CEA, Gif sur Yvette; Pa
  • Boddaert N; Department of Pediatric Radiology, Hospital Necker Enfants Malades, AP-HP, University René Descartes, PRES Sorbonne Paris Cité, INSERM U1000, Institut Imagine 24 Boulevard du Montparnasse, 75015 Paris, France.
  • Nemazanyy I; Faculty of Medicine, Paris Descartes University, Paris 75015, France; Necker Enfants Malades Institute, INSERM U1151, Paris Descartes University, 75015 Paris, France.
  • Delahodde A; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, University Paris-Sud, Université Paris-Saclay, 91198 Gif-sur-Yvette Cedex, France.
  • Kölker S; Department of General Pediatrics, Division of Pediatric Neurology and Inherited Metabolic Diseases, University Children's Hospital, 69120 Heidelberg, Germany.
  • Rodenburg RJ; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Radboud UMC, Nijmegen, the Netherlands.
  • Korenke GC; Department of Neuropediatrics, Children's Hospital Klinikum Oldenburg, Oldenburg 26133, Germany.
  • Meitinger T; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Strom TM; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Prokisch H; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Rotig A; UMR1163, University Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France.
  • Ottolenghi C; Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, APHP, 75015 Paris, France; Metabolic Biochemistry, University Paris Descartes, Hospital Necker Enfants Malades, 75015 Paris, France.
  • Mayr JA; Department of Pediatrics, Paracelsus Medical University Salzburg, 5020 Salzburg, Austria. Electronic address: h.mayr@salk.at.
  • de Lonlay P; Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, APHP, 75015 Paris, France; UMR1163, University Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France. Electronic address: pascale.delonla
Am J Hum Genet ; 101(2): 283-290, 2017 Aug 03.
Article en En | MEDLINE | ID: mdl-28757203
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Atrofia / Encéfalo / Encefalopatías / Aciltransferasas / Lipoilación / Mitocondrias Tipo de estudio: Risk_factors_studies Idioma: En Revista: Am J Hum Genet Año: 2017 Tipo del documento: Article
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Atrofia / Encéfalo / Encefalopatías / Aciltransferasas / Lipoilación / Mitocondrias Tipo de estudio: Risk_factors_studies Idioma: En Revista: Am J Hum Genet Año: 2017 Tipo del documento: Article