Your browser doesn't support javascript.
loading
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Shashi, Vandana; Schoch, Kelly; Ganetzky, Rebecca; Kranz, Peter G; Sondheimer, Neal; Markert, M Louise; Cope, Heidi; Sadeghpour, Azita; Roehrs, Philip; Arbogast, Thomas; Muraresku, Colleen; Tyndall, Amanda V; Esser, Michael J; Woodward, Kristine E; Ping-Yee Au, Billie; Parboosingh, Jillian S; Lamont, Ryan E; Bernier, Francois P; Wright, Nicola A M; Benseler, Susa M; Parsons, Simon J; El-Dairi, Mays; Smith, Edward C; Valdez, Purnima; Tennison, Michael; Innes, A Micheil; Davis, Erica E.
Afiliación
  • Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC. Electronic address: vandana.shashi@duke.edu.
  • Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC.
  • Ganetzky R; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.
  • Kranz PG; Division of Neuroradiology, Department of Radiology, Duke University Medical Center, Durham, NC.
  • Sondheimer N; Synlogic Therapeutics, Boston, MA.
  • Markert ML; Department of Pediatrics, Duke University School of Medicine, Durham, NC; Department of Immunology, Duke University Medical Center, Durham, NC.
  • Cope H; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC.
  • Sadeghpour A; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC; Duke Precision Medicine Program, Department of Medicine, Division of General Internal Medicine, Duke University Medical Center, Durham, NC.
  • Roehrs P; Pediatric Stem Cell Transplant and Cellular Therapy, Department of Pediatrics, University of Virginia, Charlottesville, VA.
  • Arbogast T; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.
  • Muraresku C; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Tyndall AV; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Esser MJ; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Woodward KE; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Ping-Yee Au B; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Parboosingh JS; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Lamont RE; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Bernier FP; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Wright NAM; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Benseler SM; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Parsons SJ; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • El-Dairi M; Department of Ophthalmology, Duke University Medical Center, Durham, NC.
  • Smith EC; Division of Neurology, Department of Pediatrics, Duke University Medical Center, Durham, NC.
  • Valdez P; Department of Pediatrics, Duke University School of Medicine, Durham, NC.
  • Tennison M; Department of Neurology, University of North Carolina at Chapel Hill, NC.
  • Innes AM; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada. Electronic address: Micheil.innes@ahs.ca.
  • Davis EE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL. Electronic address: eridavis@luriechildrens.org.
Genet Med ; 25(9): 100897, 2023 09.
Article en En | MEDLINE | ID: mdl-37191094
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Encefalopatías / Leucoencefalitis Hemorrágica Aguda / Encefalopatía Aguda Febril Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Encefalopatías / Leucoencefalitis Hemorrágica Aguda / Encefalopatía Aguda Febril Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article