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De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Brunet, Theresa; Zott, Benedikt; Lieftüchter, Victoria; Lenz, Dominic; Schmidt, Axel; Peters, Philipp; Kopajtich, Robert; Zaddach, Malin; Zimmermann, Hanna; Hüning, Irina; Ballhausen, Diana; Staufner, Christian; Bianzano, Alyssa; Hughes, Joanne; Taylor, Robert W; McFarland, Robert; Devlin, Anita; Mihaljevic, Mihaela; Barisic, Nina; Rohlfs, Meino; Wilfling, Sibylle; Sondheimer, Neal; Hewson, Stacy; Marinakis, Nikolaos M; Kosma, Konstantina; Traeger-Synodinos, Joanne; Elbracht, Miriam; Begemann, Matthias; Trepels-Kottek, Sonja; Hasan, Dimah; Scala, Marcello; Capra, Valeria; Zara, Federico; van der Ven, Amelie T; Driemeyer, Joenna; Apitz, Christian; Krämer, Johannes; Strong, Alanna; Hakonarson, Hakon; Watson, Deborah; Mayr, Johannes A; Prokisch, Holger; Meitinger, Thomas; Borggraefe, Ingo; Spiegler, Juliane; Baric, Ivo; Paolini, Marco; Gerstl, Lucia; Wagner, Matias.
Afiliación
  • Brunet T; Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich,
  • Zott B; Department of Neuroradiolgy, TUM School of Medicine, Technical University of Munich, Munich, Germany; TUM Institute for Advanced Study, Technical University of Munich, Garching, Germany.
  • Lieftüchter V; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Lenz D; Centre for Paediatric and Adolescent Medicine, Division of Neuropaediatric and Paediatric Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Schmidt A; Institute of Human Genetics, School of Medicine and University Hospital Bonn, University of Bonn, Bonn, Germany.
  • Peters P; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Kopajtich R; Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Zaddach M; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Zimmermann H; Institute of Neuroradiology, University Hospital, LMU Munich, Munich, Germany.
  • Hüning I; Institute of Human Genetics, University of Lübeck, Lübeck, Germany.
  • Ballhausen D; Pediatric Metabolic Unit, Pediatrics, Woman-Mother-Child Department, University of Lausanne and University Hospital of Lausanne, Lausanne, Switzerland.
  • Staufner C; Centre for Paediatric and Adolescent Medicine, Division of Neuropaediatric and Paediatric Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Bianzano A; Centre for Paediatric and Adolescent Medicine, Division of Neuropaediatric and Paediatric Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Hughes J; National Centre for Inherited Metabolic Disorders, Children's Health Ireland at Temple Street, Dublin, Ireland.
  • Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences Newcastle University, Newcastle upon Tyne, United Kingdom; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals
  • McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences Newcastle University, Newcastle upon Tyne, United Kingdom; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals
  • Devlin A; Department of Paediatric Neurology, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, High Heaton, Newcastle upon Tyne, United Kingdom.
  • Mihaljevic M; Department of Paediatrics, University Hospital Center Zagreb, Zagreb, Croatia.
  • Barisic N; Department of Pediatrics, Children's Hospital Srebrnjak, Zagreb, Croatia.
  • Rohlfs M; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Wilfling S; Center for Human Genetics Regensburg, Regensburg, Germany.
  • Sondheimer N; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada; Program in Genetics and Genome Biology Program, Sick Kids Research Institute, Toronto, Ontario, Canada.
  • Hewson S; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Marinakis NM; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.
  • Kosma K; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.
  • Traeger-Synodinos J; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.
  • Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Trepels-Kottek S; Department of Pediatrics, Division of Neonatology, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Hasan D; Department of Neuroradiology, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Capra V; Genomics and Clinical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • van der Ven AT; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Driemeyer J; Department of Pediatrics, University Medical Hospital Hamburg-Eppendorf, Hamburg, Germany.
  • Apitz C; Division of Pediatric Cardiology, Children's Hospital, University of Ulm, Ulm, Germany.
  • Krämer J; Division of Pediatric Neurology and Inborn Errors of Metabolism, Children's Hospital, University of Ulm, Ulm, Germany.
  • Strong A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelp
  • Hakonarson H; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelp
  • Watson D; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA.
  • Mayr JA; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.
  • Prokisch H; Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Meitinger T; Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany.
  • Borggraefe I; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian-University of Munich, Munich, Germany; Comprehensive Epilepsy Center, Ludwig-Maximilian-University of Munich, Munich, Germany.
  • Spiegler J; Department of Pediatrics, University Hospital of Würzburg, Würzburg, Germany.
  • Baric I; Department of Paediatrics, University Hospital Center Zagreb and University of Zagreb School of Medicine, Zagreb, Croatia.
  • Paolini M; Department of Radiology, University Hospital, LMU Munich, Munich, Germany.
  • Gerstl L; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian-University of Munich, Munich, Germany.
  • Wagner M; Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich,
Genet Med ; 26(2): 101013, 2024 Feb.
Article en En | MEDLINE | ID: mdl-37924258
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Leigh / Accidente Cerebrovascular / Enfermedad de Moyamoya Límite: Child / Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Leigh / Accidente Cerebrovascular / Enfermedad de Moyamoya Límite: Child / Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article