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Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.
Nuovo, Sara; Baglioni, Valentina; De Mori, Roberta; Tardivo, Silvia; Caputi, Caterina; Ginevrino, Monia; Micalizzi, Alessia; Masuelli, Laura; Federici, Giulia; Casella, Antonella; Lorefice, Elisa; Anello, Danila; Tolve, Manuela; Farini, Donatella; Bertini, Enrico; Zanni, Ginevra; Travaglini, Lorena; Vasco, Gessica; Sette, Claudio; Carducci, Carla; Valente, Enza M; Leuzzi, Vincenzo.
Afiliação
  • Nuovo S; Department of Human Neuroscience, Sapienza University of Rome, Roma, Italy.
  • Baglioni V; Department of Human Neuroscience, Sapienza University of Rome, Roma, Italy.
  • De Mori R; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Roma, Italy.
  • Tardivo S; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Roma, Italy.
  • Caputi C; Department of Human Neuroscience, Sapienza University of Rome, Roma, Italy.
  • Ginevrino M; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Roma, Italy.
  • Micalizzi A; Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Roma, Italy.
  • Masuelli L; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Roma, Italy.
  • Federici G; Department of Experimental Medicine, Sapienza University of Rome, Roma, Italy.
  • Casella A; Unit of Cellular Networks and Molecular Therapeutic Targets, IRCCS - Regina Elena National Cancer Institute, Roma, Italy.
  • Lorefice E; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Anello D; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy.
  • Tolve M; Department of Molecular Medicine, Sapienza University of Rome, Roma, Italy.
  • Farini D; Department of Medical and Surgery Sciences, Catholic University of the Sacred Heart, Roma, Italy.
  • Bertini E; Department of Experimental Medicine, Sapienza University of Rome, Roma, Italy.
  • Zanni G; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Roma, Italy.
  • Travaglini L; Laboratory of Neuroembryology, IRCCS Santa Lucia Foundation, Roma, Italy.
  • Vasco G; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Roma, Italy.
  • Sette C; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Roma, Italy.
  • Carducci C; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Roma, Italy.
  • Valente EM; Neuroscience and Neurorehabilitation Department, MARlab, IRCCS Bambino Gesù Children's Hospital, Roma, Italy.
  • Leuzzi V; Laboratory of Neuroembryology, IRCCS Santa Lucia Foundation, Roma, Italy.
Hum Mutat ; 43(1): 67-73, 2022 01.
Article em En | MEDLINE | ID: mdl-34747546
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Convulsões / Proteínas Nucleares Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Hum Mutat Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Convulsões / Proteínas Nucleares Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Hum Mutat Ano de publicação: 2022 Tipo de documento: Article