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Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations.
Riva, Antonella; Orsini, Alessandro; Scala, Marcello; Taramasso, Vittoria; Canafoglia, Laura; d'Orsi, Giuseppe; Di Claudio, Maria Teresa; Avolio, Carlo; D'Aniello, Alfredo; Elia, Maurizio; Franceschetti, Silvana; Di Gennaro, Giancarlo; Bisulli, Francesca; Tinuper, Paolo; Tappatà, Maria; Romeo, Antonino; Freri, Elena; Marini, Carla; Costa, Cinzia; Sofia, Vito; Ferlazzo, Edoardo; Magaudda, Adriana; Veggiotti, Pierangelo; Gennaro, Elena; Pistorio, Angela; Minetti, Carlo; Bianchi, Amedeo; Striano, Salvatore; Michelucci, Roberto; Zara, Federico; Minassian, Berge Arakel; Striano, Pasquale.
Afiliación
  • Riva A; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università degli Studi di Genova, Genova, Italy. Electronic address: antonella.riva@edu.unige.it.
  • Orsini A; Pediatric Clinic, Department of Clinical and Experimental Medicine, Università di Pisa, Pisa, Italy.
  • Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università degli Studi di Genova, Genova, Italy; Pediatric Neurology and Muscular Disease Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.
  • Taramasso V; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università degli Studi di Genova, Genova, Italy.
  • Canafoglia L; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • d'Orsi G; Epilepsy Centre-S.C. Neurologia Universitaria, Policlinico Riuniti, Foggia, Italy.
  • Di Claudio MT; Epilepsy Centre-S.C. Neurologia Universitaria, Policlinico Riuniti, Foggia, Italy.
  • Avolio C; Epilepsy Centre-S.C. Neurologia Universitaria, Policlinico Riuniti, Foggia, Italy.
  • D'Aniello A; IRCCS "NEUROMED", Pozzilli, Isernia, Italy.
  • Elia M; Unit of Neurology and Clinical Neurophysiopathology, Oasi Research Institute, IRCCS, Troina, Italy.
  • Franceschetti S; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Di Gennaro G; IRCCS "NEUROMED", Pozzilli, Isernia, Italy.
  • Bisulli F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Epilepsy Center (Reference Center for Rare and Complex Epilepsies - EpiCARE), Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
  • Tinuper P; IRCCS Istituto delle Scienze Neurologiche di Bologna, Epilepsy Center (Reference Center for Rare and Complex Epilepsies - EpiCARE), Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
  • Tappatà M; IRCCS Istituto delle Scienze Neurologiche di Bologna, Epilepsy Center (Reference Center for Rare and Complex Epilepsies - EpiCARE), Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
  • Romeo A; Pediatric Neurology Unit and Epilepsy Center, Department of Neuroscience, "Fatebenefratelli e Oftalmico" Hospital, Milano, Italy.
  • Freri E; Department of Pediatric Neuroscience, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy.
  • Marini C; Child Neurology and Psychiatric Unit, Salesi Pediatric Hospital, United Hospitals of Ancona, Ancona, Italy.
  • Costa C; Neurology Clinic, S.M. Misericordia Hospital, Departement of Medicine, University of Perugia, Perugia, Italy.
  • Sofia V; Dipartimento "G.F Ingrassia", Università degli Studi di Catania, Catania, Italy.
  • Ferlazzo E; Department of Medical and Surgical Sciences, "Magna Graecia" University of Catanzaro, Germaneto, Catanzaro, Italy.
  • Magaudda A; Epilepsy Center, Department of Clinical and Experimental Medicine, AOU Policlinico "G. Martino", Messina, Italy.
  • Veggiotti P; Department of the Mother and Child Health, Pediatric Unit, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
  • Gennaro E; UOC Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, Genova, Italy.
  • Pistorio A; Pediatric Neurology and Muscular Disease Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.
  • Minetti C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università degli Studi di Genova, Genova, Italy; Pediatric Neurology and Muscular Disease Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.
  • Bianchi A; Department of Neurology and Epilepsy Centre, San Donato Hospital, Arezzo, Italy.
  • Striano S; Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, Napoli, Italy.
  • Michelucci R; IRCCS Istituto delle Scienze Neurologiche di Bologna, Epilepsy Center (Reference Center for Rare and Complex Epilepsies - EpiCARE), Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
  • Zara F; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università degli Studi di Genova, Genova, Italy.
  • Minassian BA; Pediatric Neurology, University of Texas Southwestern and Dallas Children's Medical Centre, Dallas, TX, USA.
  • Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università degli Studi di Genova, Genova, Italy; Pediatric Neurology and Muscular Disease Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy. Electronic address: strianop@gmail.com.
J Neurol Sci ; 424: 117409, 2021 May 15.
Article en En | MEDLINE | ID: mdl-33773408
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Lafora Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Humans / Middle aged País/Región como asunto: Europa Idioma: En Revista: J Neurol Sci Año: 2021 Tipo del documento: Article Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Lafora Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Humans / Middle aged País/Región como asunto: Europa Idioma: En Revista: J Neurol Sci Año: 2021 Tipo del documento: Article Pais de publicación: Países Bajos