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Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.
De Mori, Roberta; Severino, Mariasavina; Mancardi, Maria Margherita; Anello, Danila; Tardivo, Silvia; Biagini, Tommaso; Capra, Valeria; Casella, Antonella; Cereda, Cristina; Copeland, Brett R; Gagliardi, Stella; Gamucci, Alessandra; Ginevrino, Monia; Illi, Barbara; Lorefice, Elisa; Musaev, Damir; Stanley, Valentina; Micalizzi, Alessia; Gleeson, Joseph G; Mazza, Tommaso; Rossi, Andrea; Valente, Enza Maria.
Afiliación
  • De Mori R; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome, Italy.
  • Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Mancardi MM; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Anello D; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome, Italy.
  • Tardivo S; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome, Italy.
  • Biagini T; IRCCS Casa Sollievo della Sofferenza, Laboratory of Bioinformatics, San Giovanni Rotondo (FG), Italy.
  • Capra V; Neurosurgery Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Casella A; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Cereda C; Genomic and Postgenomic Lab, IRCCS Mondino Foundation, Pavia, Italy.
  • Copeland BR; Laboratory for Pediatric Brain Diseases, Rady Children's Institute for Genomic Medicine, University of California San Diego, Howard Hughes Medical Institute, La Jolla (CA), USA.
  • Gagliardi S; Genomic and Postgenomic Lab, IRCCS Mondino Foundation, Pavia, Italy.
  • Gamucci A; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Ginevrino M; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome, Italy.
  • Illi B; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Lorefice E; Institute of Molecular Biology and Pathology, National Research Council, Rome, Italy.
  • Musaev D; Department of Molecular Medicine, Sapienza University, Rome, Italy.
  • Stanley V; Laboratory for Pediatric Brain Diseases, Rady Children's Institute for Genomic Medicine, University of California San Diego, Howard Hughes Medical Institute, La Jolla (CA), USA.
  • Micalizzi A; Laboratory for Pediatric Brain Diseases, Rady Children's Institute for Genomic Medicine, University of California San Diego, Howard Hughes Medical Institute, La Jolla (CA), USA.
  • Gleeson JG; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, Rome, Italy.
  • Mazza T; Laboratory for Pediatric Brain Diseases, Rady Children's Institute for Genomic Medicine, University of California San Diego, Howard Hughes Medical Institute, La Jolla (CA), USA.
  • Rossi A; IRCCS Casa Sollievo della Sofferenza, Laboratory of Bioinformatics, San Giovanni Rotondo (FG), Italy.
  • Valente EM; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Brain ; 142(10): 2965-2978, 2019 10 01.
Article en En | MEDLINE | ID: mdl-31412107
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Putamen / Proteínas de Homeodominio / Globo Pálido Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child, preschool / Female / Humans / Male Idioma: En Revista: Brain Año: 2019 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido
Texto completo
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PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Putamen / Proteínas de Homeodominio / Globo Pálido Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child, preschool / Female / Humans / Male Idioma: En Revista: Brain Año: 2019 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido