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Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model.
Mignogna, Maria Lidia; Ficarella, Romina; Gelmini, Susanna; Marzulli, Lucia; Ponzi, Emanuela; Gabellone, Alessandra; Peschechera, Antonia; Alessio, Massino; Margari, Lucia; Gentile, Mattia; D'Adamo, Patrizia.
Afiliação
  • Mignogna ML; Molecular Genetics of Intellectual Disability, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, 20132, Milan, Italy.
  • Ficarella R; Medical Genetics Unit, Department of Reproductive Medicine, ASL Bari, 70132, Bari, Italy.
  • Gelmini S; Molecular Genetics of Intellectual Disability, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, 20132, Milan, Italy.
  • Marzulli L; Child Neuropsychiatry Unit, Department of Biomedical Sciences and Human Oncology, University of Bari "Aldo Moro", 70126, Bari, Italy.
  • Ponzi E; Medical Genetics Unit, Department of Reproductive Medicine, ASL Bari, 70132, Bari, Italy.
  • Gabellone A; Child Neuropsychiatry Unit, Department of Biomedical Sciences and Human Oncology, University of Bari "Aldo Moro", 70126, Bari, Italy.
  • Peschechera A; Child Neuropsychiatry Unit, Department of Biomedical Sciences and Human Oncology, University of Bari "Aldo Moro", 70126, Bari, Italy.
  • Alessio M; Proteome Biochemistry, Center for Omics Sciences, IRCCS San Raffaele Scientific Institute, 20132, Milan, Italy.
  • Margari L; Child Neuropsychiatry Unit, Department of Biomedical Sciences and Human Oncology, University of Bari "Aldo Moro", 70126, Bari, Italy.
  • Gentile M; Medical Genetics Unit, Department of Reproductive Medicine, ASL Bari, 70132, Bari, Italy.
  • D'Adamo P; Molecular Genetics of Intellectual Disability, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, 20132, Milan, Italy.
Hum Mol Genet ; 31(9): 1389-1406, 2022 05 04.
Article em En | MEDLINE | ID: mdl-34761259
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtorno do Espectro Autista / Deficiência Intelectual Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtorno do Espectro Autista / Deficiência Intelectual Idioma: En Ano de publicação: 2022 Tipo de documento: Article