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Characterization of the molecular dysfunctions occurring in Aicardi-Goutières syndrome patients with mutations in ADAR1.
Al Wardat, Sofian; Frassinelli, Loredana; Orecchini, Elisa; Rey, Federica; Ciafrè, Silvia Anna; Galardi, Silvia; Garau, Jessica; Gagliardi, Stella; Orcesi, Simona; Tonduti, Davide; Carelli, Stephana; Cereda, Cristina; Picardi, Ernesto; Michienzi, Alessandro.
Affiliation
  • Al Wardat S; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome 00133, Italy.
  • Frassinelli L; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome 00133, Italy.
  • Orecchini E; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome 00133, Italy.
  • Rey F; Pediatric Clinical Research Center "Romeo ed Enrica Invernizzi", Department of Biomedical and Clinical Sciences, University of Milano, Milano 20157, Italy.
  • Ciafrè SA; Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children's Hospital, Milano 20154, Italy.
  • Galardi S; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome 00133, Italy.
  • Garau J; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome 00133, Italy.
  • Gagliardi S; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia 27100, Italy.
  • Orcesi S; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia 27100, Italy.
  • Tonduti D; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia 27100, Italy.
  • Carelli S; Unit of Pediatric Neurology, C.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), Buzzi Children's Hospital, Milano 20154, Italy.
  • Cereda C; Pediatric Clinical Research Center "Romeo ed Enrica Invernizzi", Department of Biomedical and Clinical Sciences, University of Milano, Milano 20157, Italy.
  • Picardi E; Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children's Hospital, Milano 20154, Italy.
  • Michienzi A; Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children's Hospital, Milano 20154, Italy.
Genes Dis ; 11(3): 101028, 2024 May.
Article in En | MEDLINE | ID: mdl-38292175
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Genes Dis Year: 2024 Document type: Article Affiliation country: Italia
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Genes Dis Year: 2024 Document type: Article Affiliation country: Italia