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Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients.
Balagura, Ganna; Riva, Antonella; Marchese, Francesca; Iacomino, Michele; Madia, Francesca; Giacomini, Thea; Mancardi, Maria Margherita; Amadori, Elisabetta; Vari, Maria Stella; Salpietro, Vincenzo; Russo, Angelo; Messana, Tullio; Vignoli, Aglaia; Chiesa, Valentina; Giordano, Lucio; Accorsi, Patrizia; Caffi, Lorella; Orsini, Alessandro; Bonuccelli, Alice; Santucci, Margherita; Vecchi, Marilena; Vanadia, Francesca; Milito, Giuseppe; Fusco, Carlo; Cricchiutti, Giovanni; Carpentieri, Marilisa; Margari, Lucia; Spalice, Alberto; Beccaria, Francesca; Benfenati, Fabio; Zara, Federico; Striano, Pasquale.
Afiliação
  • Balagura G; Pediatric Neurology and Muscular Diseases Unit, IRCCS "G. Gaslini" Institute, Genova, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Italy. Electronic address: anna.bala@hotmail.it.
  • Riva A; Pediatric Neurology and Muscular Diseases Unit, IRCCS "G. Gaslini" Institute, Genova, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Italy.
  • Marchese F; Pediatric Neurology and Muscular Diseases Unit, IRCCS "G. Gaslini" Institute, Genova, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Italy.
  • Iacomino M; Medical Genetics Unit, IRCCS Giannina Gaslini Insitute, Genova, Italy.
  • Madia F; Medical Genetics Unit, IRCCS Giannina Gaslini Insitute, Genova, Italy.
  • Giacomini T; Unit of Child Neuropsychiatry, Clinical and Surgical Neurosciences Department, IRCCS Istituto Giannina Gaslini, Genova, Italy.
  • Mancardi MM; Unit of Child Neuropsychiatry, Clinical and Surgical Neurosciences Department, IRCCS Istituto Giannina Gaslini, Genova, Italy.
  • Amadori E; Pediatric Neurology and Muscular Diseases Unit, IRCCS "G. Gaslini" Institute, Genova, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Italy.
  • Vari MS; Pediatric Neurology and Muscular Diseases Unit, IRCCS "G. Gaslini" Institute, Genova, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Italy.
  • Salpietro V; Pediatric Neurology and Muscular Diseases Unit, IRCCS "G. Gaslini" Institute, Genova, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Italy.
  • Russo A; UOC Neuropsichiatria Infantile, Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Bologna, Italy; IRCCS, Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Messana T; UOC Neuropsichiatria Infantile, Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Bologna, Italy; IRCCS, Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Vignoli A; Child Neuropsychiatry Unit - Epilepsy Center, San Paolo Hospital, Milan, Italy; Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.
  • Chiesa V; Child Neuropsychiatry Unit - Epilepsy Center, San Paolo Hospital, Milan, Italy.
  • Giordano L; Child Neuropsychiatric Division, Spedali Civili, Brescia, Italy.
  • Accorsi P; Clinical Pathology Unit, Pescara General Hospital, Pescara, Italy.
  • Caffi L; Neuropsichiatria Infantile, ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Orsini A; Paediatric Neurology, Department of Paediatrics, University Hospital of Pisa, Pisa, Italy.
  • Bonuccelli A; Paediatric Neurology, Department of Paediatrics, University Hospital of Pisa, Pisa, Italy.
  • Santucci M; UOC Neuropsichiatria Infantile, Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Bologna, Italy; IRCCS, Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Vecchi M; La Nostra Famiglia Association, University of Padova, Padova, Italy.
  • Vanadia F; ARNAS Ospedali Civico Di Cristina Benfratelli, Palermo, Italy.
  • Milito G; Child Neuropsychiatric Division, Spedali Civili, Brescia, Italy.
  • Fusco C; Department of Pediatrics, Child Neurology Unit, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • Cricchiutti G; Department of Pediatrics, Pediatric Neurophysiology Laboratory, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy; Division of Pediatrics, Department of Medicine, University of Udine, Udine, Italy.
  • Carpentieri M; AOU "San Giovanni di Dio e Ruggi d'Aragona"- Servizio Neurologia Pediatrica PO "Santa Maria dell'Olmo", Cava dei Tirreni, SA, Italy.
  • Margari L; Dipartimento di Scienze Mediche di Base, Neuroscienze ed Organi di Senso, Università degli Studi di Bari "Aldo Moro,", Bari, Italy.
  • Spalice A; Department of Pediatrics - Child Neurology Division - "Sapienza", University of Rome, Italy.
  • Beccaria F; Epilepsy Center, Department of Child Neuropsychiatry, ASST Mantova, Mantua, Italy.
  • Benfenati F; Istituto di Ricovero e Cura a Carattere Scientifico, Ospedale Policlinico San Martino, Genoa, Italy; Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Genoa, Italy.
  • Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Italy; Medical Genetics Unit, IRCCS Giannina Gaslini Insitute, Genova, Italy.
  • Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS "G. Gaslini" Institute, Genova, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Italy.
Eur J Paediatr Neurol ; 28: 193-197, 2020 Sep.
Article em En | MEDLINE | ID: mdl-32651081
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distonia / Epilepsia / Proteínas de Membrana / Proteínas do Tecido Nervoso Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Qualitative_research / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Europa Idioma: En Revista: Eur J Paediatr Neurol Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2020 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distonia / Epilepsia / Proteínas de Membrana / Proteínas do Tecido Nervoso Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Qualitative_research / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Europa Idioma: En Revista: Eur J Paediatr Neurol Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2020 Tipo de documento: Article