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Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Rice, Gillian I; Kitabayashi, Naoki; Barth, Magalie; Briggs, Tracy A; Burton, Annabel C E; Carpanelli, Maria Luisa; Cerisola, Alfredo M; Colson, Cindy; Dale, Russell C; Danti, Federica Rachele; Darin, Niklas; De Azua, Begoña; De Giorgis, Valentina; De Goede, Christian G L; Desguerre, Isabelle; De Laet, Corinne; Eslahi, Atieh; Fahey, Michael C; Fallon, Penny; Fay, Alex; Fazzi, Elisa; Gorman, Mark P; Gowrinathan, Nirmala Rani; Hully, Marie; Kurian, Manju A; Leboucq, Nicolas; Lin, Jean-Pierre S-M; Lines, Matthew A; Mar, Soe S; Maroofian, Reza; Martí-Sanchez, Laura; McCullagh, Gary; Mojarrad, Majid; Narayanan, Vinodh; Orcesi, Simona; Ortigoza-Escobar, Juan Dario; Pérez-Dueñas, Belén; Petit, Florence; Ramsey, Keri M; Rasmussen, Magnhild; Rivier, François; Rodríguez-Pombo, Pilar; Roubertie, Agathe; Stödberg, Tommy I; Toosi, Mehran Beiraghi; Toutain, Annick; Uettwiller, Florence; Ulrick, Nicole; Vanderver, Adeline; Waldman, Amy.
Afiliação
  • Rice GI; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.
  • Kitabayashi N; Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France.
  • Barth M; Sorbonne-Paris-Cité, Institut Imagine, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris Descartes University, Paris, France.
  • Briggs TA; Department of Genetics, CHU Angers, Angers, France.
  • Burton ACE; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.
  • Carpanelli ML; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, St Mary's Hospital, Manchester, United Kingdom.
  • Cerisola AM; Department of Paediatrics and Child Health, St George's University Hospitals NHS Foundation Trust, London, United Kingdom.
  • Colson C; Department of Child Neurology and Psychiatry, A. Manzoni Hospital, Lecco, Italy.
  • Dale RC; Department of Pediatric Neurology, Facultad de Medicina, UDELAR, Montevideo, Uruguay.
  • Danti FR; Clinique de Génétique, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.
  • Darin N; Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, University of Sydney, Sydney, Australia.
  • De Azua B; Department of Developmental Neurosciences, Institute of Child Health, UCL, London, United Kingdom.
  • De Giorgis V; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.
  • De Goede CGL; Department of Paediatrics, Child Neurology and Psychiatry, Sapienza University, Rome, Italy.
  • Desguerre I; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska University Hospital, University of Gothenburg, Gothenburg, Sweden.
  • De Laet C; Department of Pediatrics, Hospital Son Llátzer, Palma de Mallorca, Spain.
  • Eslahi A; Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy.
  • Fahey MC; Department of Paediatric Neurology, Royal Preston Hospital, Preston, United Kingdom.
  • Fallon P; Department of Paediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
  • Fay A; Nutrition and metabolic Unit, Hôpital Universitaire des Enfants Reine Fabiola, Brussels, Belgium.
  • Fazzi E; Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Gorman MP; Department of Paediatrics, Monash University, Melbourne, Australia.
  • Gowrinathan NR; Department of Paediatric Neurology, St George's University Hospitals NHS Foundation Trust, London, United Kingdom.
  • Hully M; Department of Neurology, University of California, California, San Francisco, United States.
  • Kurian MA; Unit of Child Neurology and Psychiatry, Department of Clinical and Experimental Sciences, Civil Hospital, University of Brescia, Brescia, Italy.
  • Leboucq N; Department of Neurology, Boston Children's Hospital, Boston, United States.
  • Lin JS; Department of Neurology, Kaiser Permanente, Los Angeles, United States.
  • Lines MA; Department of Paediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
  • Mar SS; Department of Developmental Neurosciences, Institute of Child Health, UCL, London, United Kingdom.
  • Maroofian R; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.
  • Martí-Sanchez L; Neuroradiologie, CHU de Montpellier, Montpellier, France.
  • McCullagh G; General Neurology and Complex Motor Disorders Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, United Kingdom.
  • Mojarrad M; Department of Pediatrics, University of Ottawa, Ottawa, Canada.
  • Narayanan V; Department of Pediatric Neurology, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, United States.
  • Orcesi S; Medical Research, RILD Wellcome Wolfson Centre, Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Ortigoza-Escobar JD; Department of Child Neurology, Hospital Sant Joan de Déu, Esplugues de Llobregat, Catalonia, Spain.
  • Pérez-Dueñas B; Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester, United Kingdom.
  • Petit F; Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Ramsey KM; Neurogenomics Division, Center for Rare Childhood Disorders, TGen - The Translational Genomics Research Institute, Phoenix, United States.
  • Rasmussen M; Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy.
  • Rivier F; Department of Child Neurology, Hospital Sant Joan de Déu, Esplugues de Llobregat, Catalonia, Spain.
  • Rodríguez-Pombo P; Department of Child Neurology, Hospital Sant Joan de Déu, Esplugues de Llobregat, Catalonia, Spain.
  • Roubertie A; Clinique de Génétique, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.
  • Stödberg TI; Neurogenomics Division, Center for Rare Childhood Disorders, TGen - The Translational Genomics Research Institute, Phoenix, United States.
  • Toosi MB; Department of Clinical Neurosciences for Children, and Unit for Congenital and Hereditary Neuromuscular Disorders, Oslo University Hospital, Oslo, Norway.
  • Toutain A; Department of Neuropédiatrie and CR Maladies Neuromusculaires, CHU de Montpellier, France.
  • Uettwiller F; PhyMedExp, University of Montpellier, INSERM U1046, CNRS UMR 9214, Montpellier, France.
  • Ulrick N; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, Universidad Autónoma Madrid, CIBERER, IDIPAZ, Madrid, Spain.
  • Vanderver A; Department of Neuropédiatrie and CR Maladies Neuromusculaires, CHU de Montpellier, France.
  • Waldman A; INSERM U1051, Institut des Neurosciences de Montpellier, Montpellier, France.
Neuropediatrics ; 48(3): 166-184, 2017 Jun.
Article em En | MEDLINE | ID: mdl-28561207
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Interferon Tipo I / Adenosina Desaminase / Proteínas de Ligação a RNA / Doenças Autoimunes do Sistema Nervoso / Malformações do Sistema Nervoso Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Neuropediatrics Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Reino Unido
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Interferon Tipo I / Adenosina Desaminase / Proteínas de Ligação a RNA / Doenças Autoimunes do Sistema Nervoso / Malformações do Sistema Nervoso Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Neuropediatrics Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Reino Unido