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J-GLOBAL ID：200902254623773136   Reference number：09A0075934

Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2

細胞核孔であるRANBP2の1成分において突然変異が発症させた壊死性急性脳症の感染発病性家族性または再発性症例

Author (40)： NEILSON Derek E. (Dep. of Genetics, Case Western Reserve Univ. School of Medicine, Univ. Hospitals Case Medical Center, Cleveland, OH ...) ,  NEILSON Derek E. (Center for Human Genetics, Case Western Reserve Univ. School of Medicine, Univ. Hospitals Case Medical Center ...) ,  NEILSON Derek E. (Dep. of Pediatrics, Case Western Reserve Univ. School of Medicine, Univ. Hospitals Case Medical Center, Cleveland ...) ,  ADAMS Mark D. (Dep. of Genetics, Case Western Reserve Univ. School of Medicine, Univ. Hospitals Case Medical Center, Cleveland, OH ...) ,  ORR Caitlin M.D. (Dep. of Genetics, Case Western Reserve Univ. School of Medicine, Univ. Hospitals Case Medical Center, Cleveland, OH ...) ,  SCHELLING Deborah K. (Dep. of Genetics, Case Western Reserve Univ. School of Medicine, Univ. Hospitals Case Medical Center, Cleveland, OH ...) ,  EIBEN Robert M. (Dep. of Pediatrics, Case Western Reserve Univ. School of Medicine, Univ. Hospitals Case Medical Center, Cleveland ...) ,  EIBEN Robert M. (MetroHealth Medical Center, Cleveland, OH 44109, USA) ,  KERR Douglas S. (Dep. of Pediatrics, Case Western Reserve Univ. School of Medicine, Univ. Hospitals Case Medical Center, Cleveland ...) ,  ANDERSON Jane (Dep. of Pediatrics, Univ. of California, San Francisco, San Francisco, CA 94118, USA) ,  BASSUK Alexander G. (Dep. of Pediatrics, Univ. of Iowa Children’s Hospital, Iowa City, IA 52242, USA) ,  BYE Ann M. (Sydney Children’s Hospital, Randwick, NSW 2031, AUS) ,  CHILDS Anne-marie (Dep. of Paediatric Neurology, Leeds Teaching Hospitals Trust, Leeds LS2 9NS, GBR) ,  CLARKE Antonia (Dep. of Paediatric Neurology, St George’s Hospital, London SW17 OQT, GBR) ,  CROW Yanick J. (Leeds Inst. of Molecular Medicine, St James’s Univ. Hospital, Leeds LS9 7TF, GBR) ,  DI ROCCO Maja (Unit of Rare Diseases, II Div. of Pediatrics, Gaslini Inst., Genoa 16147, ITA) ,  DOHNA-SCHWAKE Christian (Dep. of Pediatrics, Neuropediatrics, Neonatal and Pediatric Intensive Care, Univ. Children’s Hospital Essen, D-45130 ...) ,  DUECKERS Gregor (Dep. of Pediatrics, Neuropediatrics, Neonatal and Pediatric Intensive Care, Univ. Children’s Hospital Essen, D-45130 ...) ,  FASANO Alfonso E. (Dep. of Neurology, Gemelli Hospital, Catholic Univ. of Sacred Heart, Rome 00168, ITA) ,  GIKA Artemis D. (Dep. of Paediatric Neurology, St George’s Hospital, London SW17 OQT, GBR) ,  GIONNIS Dimitris (Pediatric Intensive Care Unit, Univ. of Athens, “P & A Kyriakou” Children’s Hospital, Athens 11527, GRC) ,  GORMAN Mark P. (Dep. of Neurology, Children’s Hospital Boston, Boston, MA 02115, USA) ,  GRATTAN-SMITH Padraic J. (Sydney Children’s Hospital, Randwick, NSW 2031, AUS) ,  HACKENBERG Annette (Professor-Hess-Kinderklinik, Klinikum Bremen-Mitte, Bremen 28177, DEU) ,  KUSTER Alice (Metabolic Unit, Univ. Hospital of Nantes, Nantes F-44093, FRA) ,  LENTSCHIG Markus G. (MR and PET-CT centre Bremen-Mitte, Bremen 28177, DEU) ,  LOPEZ-LASO Eduardo (Pediatric Neurology Unit, Dep. of Pediatrics, Univ. Hospital Reina Sofia, Cordoba 14004, ESP) ,  MARCO Elysa J. (Div. of Child Neurology, Univ. of California, San Francisco, San Francisco, CA 94118, USA) ,  MASTROYIANNI Sotiria ,  PERRIER Julie ,  SCHMITT-MECHELKE Thomas ,  SERVIDEI Serenella (Dep. of Neurology, Gemelli Hospital, Catholic Univ. of Sacred Heart, Rome 00168, ITA) ,  SKARDOUTSOU Angeliki ,  ULDALL Peter ,  VAN DER KNAAP Marjo S. ,  GOGLIN Karrie C. (Dep. of Genetics, Case Western Reserve Univ. School of Medicine, Univ. Hospitals Case Medical Center, Cleveland, OH ...) ,  TEFFT David L. (Dep. of Genetics, Case Western Reserve Univ. School of Medicine, Univ. Hospitals Case Medical Center, Cleveland, OH ...) ,  AUBIN Cristin ,  DE JAGER Philip ,  HAFLER David
Material： American Journal of Human Genetics  (AJHG)
Volume： 84  Issue： 1  Page： 44-51  Publication year： Jan. 09, 2009 
JST Material Number： B0360B  ISSN： 0002-9297  Document type： Article
Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Terms in the title (10)： 細胞核 ,  突然変異 ,  発症 ,  壊死 ,  急性脳症 ,  感染 ,  発病 ,  家族 ,  再発 ,  症例