Your browser doesn't support javascript.
loading
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
Nuovo, Sara; Micalizzi, Alessia; Romaniello, Romina; Arrigoni, Filippo; Ginevrino, Monia; Casella, Antonella; Serpieri, Valentina; D'Arrigo, Stefano; Briguglio, Marilena; Salerno, Grazia Gabriella; Rossato, Sara; Sartori, Stefano; Leuzzi, Vincenzo; Battini, Roberta; Ben-Zeev, Bruria; Graziano, Claudio; Mirabelli Badenier, Marisol; Brankovic, Vesna; Nardocci, Nardo; Spiegel, Ronen; Petkovic Ramadza, Danijela; Vento, Giovanni; Marti, Itxaso; Simonati, Alessandro; Dipresa, Savina; Freri, Elena; Mazza, Tommaso; Bassi, Maria Teresa; Bosco, Luca; Travaglini, Lorena; Zanni, Ginevra; Bertini, Enrico Silvio; Vanacore, Nicola; Borgatti, Renato; Valente, Enza Maria.
Afiliação
  • Nuovo S; Department of Human Neuroscience, Sapienza University of Rome, Roma, Italy.
  • Micalizzi A; Laboratory of Medical Genetics, IRCCS Bambino Gesù Children's Hospital, Roma, Italy.
  • Romaniello R; Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
  • Arrigoni F; Neuroimaging Lab, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
  • Ginevrino M; Laboratory of Medical Genetics, IRCCS Bambino Gesù Children's Hospital, Roma, Italy.
  • Casella A; Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Roma, Italy.
  • Serpieri V; IRCCS Mondino Foundation, Pavia, Italy.
  • D'Arrigo S; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Briguglio M; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Salerno GG; Department of Developmental Neurology, Fondazione IRCCS, Istituto Neurologico Carlo Besta, Milano, Italy.
  • Rossato S; Interdepartmental Program "Autism 0-90", "G. Martino" University Hospital of Messina, Messina, Italy.
  • Sartori S; Child Neurology Unit, Department of Paediatrics, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • Leuzzi V; U.O.C. Pediatria, Ospedale San Bortolo, Vicenza, Italy.
  • Battini R; Paediatric Neurology and Neurophysiology Unit, Department of Women's and Children's Health, University Hospital of Padova, Padova, Italy.
  • Ben-Zeev B; Department of Human Neuroscience, Sapienza University of Rome, Roma, Italy.
  • Graziano C; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Mirabelli Badenier M; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.
  • Brankovic V; Pediatric Neurology Department, The Edmond and Lilly Safra Pediatric Hospital, Sheba Medical Center, Tel Hashomer, Israel.
  • Nardocci N; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Spiegel R; Medical Genetics Unit, AOU Policlinico di S. Orsola, Bologna, Italy.
  • Petkovic Ramadza D; Fondazione Istituto David Chiossone Onlus, Genova, Italy.
  • Vento G; Child Neuropsychiatry Unit, Department of Neurosciences and Rehabilitation, Istituto G. Gaslini, Genova, Italy.
  • Marti I; Clinic for Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia.
  • Simonati A; Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
  • Dipresa S; Department of Pediatrics B, Emek Medical Center, Afula, Israel.
  • Freri E; Rappaport School of Medicine, Technion, Haifa, Israel.
  • Mazza T; Department of Pediatrics, University Hospital Centre, Zagreb, Croatia.
  • Bassi MT; Division of Neonatology, Department of Woman and Child Health and Public Health, Child Health Area, Fondazione Policlinico Universitario A. Gemelli IRCCS-Università Cattolica del Sacro Cuore, Roma, Italy.
  • Bosco L; Pediatric Neurology, Hospital Universitario Donostia, Biodonostia, Universidad del País Vasco UPV-EHU, San Sebastian, Spain.
  • Travaglini L; Department of Surgery, Dentistry, Paediatrics and Gynaecology, University of Verona School of Medicine and Department of Clinical Neuroscience AOUI Verona, Verona, Italy.
  • Zanni G; Department of Medicine, Unit of Andrology and Reproductive Medicine, University of Padova, Padova, Italy.
  • Bertini ES; Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
  • Vanacore N; Bioinformatics Unit, IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Italy.
  • Borgatti R; Laboratory of Molecular Biology, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
  • Valente EM; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Roma, Italy.
J Med Genet ; 59(4): 399-409, 2022 04.
Article em En | MEDLINE | ID: mdl-34085948
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofias Olivopontocerebelares / Doenças Cerebelares Tipo de estudo: Clinical_trials / Diagnostic_studies Limite: Female / Humans / Male Idioma: En Revista: J Med Genet 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: Atrofias Olivopontocerebelares / Doenças Cerebelares Tipo de estudo: Clinical_trials / Diagnostic_studies Limite: Female / Humans / Male Idioma: En Revista: J Med Genet Ano de publicação: 2022 Tipo de documento: Article