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Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.
Nicita, Francesco; Ginevrino, Monia; Travaglini, Lorena; D'Arrigo, Stefano; Zorzi, Giovanna; Borgatti, Renato; Terrone, Gaetano; Catteruccia, Michela; Vasco, Gessica; Brankovic, Vesna; Siliquini, Sabrina; Romano, Silvia; Veredice, Chiara; Pedemonte, Marina; Armando, Michelina; Lettori, Donatella; Stregapede, Fabrizia; Bosco, Luca; Sferra, Antonella; Tessarollo, Valeria; Romaniello, Romina; Ristori, Giovanni; Bertini, Enrico; Valente, Enza Maria; Zanni, Ginevra.
Afiliação
  • Nicita F; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Roma, Italy francesco.nicita@opbg.net.
  • Ginevrino M; Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Roma, Italy.
  • Travaglini L; Laboratory of Medical Genetics, IRCCS, Bambino Gesù Children's Hospital, Roma, Italy.
  • D'Arrigo S; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Roma, Italy.
  • Zorzi G; Department of Developmental Neurology, Fondazione IRCCS, Istituto Neurologico Carlo Besta, Milano, Italy.
  • Borgatti R; Child Neuropsychiatry Unit, Fondazione IRCCS, Istituto Neurologico Carlo Besta, Milano, Italy.
  • Terrone G; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
  • Catteruccia M; IRCCS Mondino Foundation, Pavia, Italy.
  • Vasco G; Department of Translational Medicine, Section of Pediatrics, Child Neurology Unit, Universita degli Studi di Napoli Federico II, Napoli, Campania, Italy.
  • Brankovic V; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Roma, Italy.
  • Siliquini S; Unit of Neurorehabilitation, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Roma, Italy.
  • Romano S; Clinic for Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia.
  • Veredice C; Child Neuropsychiatry Unit, Pediatric Hospital G. Salesi, Ospedali Riuniti, Ancona, Italy.
  • Pedemonte M; Neurosciences, Mental Health, and Sensory Organs (NESMOS) Department, Center for Experimental Neurological Therapies, S. Andrea Hospital Site, Sapienza University of Rome, Rome, Italy.
  • Armando M; Child Neurology and Psychiatry, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rom, Italy.
  • Lettori D; Unit of Pediatric Neurology and Muscle Diseases, IRCCS Istituto Giannina Gaslini, Genova, Italy.
  • Stregapede F; Unit of Neurorehabilitation, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Roma, Italy.
  • Bosco L; Unit of Neurorehabilitation, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Roma, Italy.
  • Sferra A; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Roma, Italy.
  • Tessarollo V; Department of Sciences, Roma Tre University, Rom, Italy.
  • Romaniello R; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Roma, Italy.
  • Ristori G; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Roma, Italy.
  • Bertini E; Department of Developmental Neurology, Fondazione IRCCS, Istituto Neurologico Carlo Besta, Milano, Italy.
  • Valente EM; Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Lecco, Italy.
  • Zanni G; Neurosciences, Mental Health, and Sensory Organs (NESMOS) Department, Center for Experimental Neurological Therapies, S. Andrea Hospital Site, Sapienza University of Rome, Rome, Italy.
J Med Genet ; 58(7): 475-483, 2021 07.
Article em En | MEDLINE | ID: mdl-32737135
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cinesinas / Doenças Neurodegenerativas / Transtornos do Neurodesenvolvimento Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cinesinas / Doenças Neurodegenerativas / Transtornos do Neurodesenvolvimento Idioma: En Ano de publicação: 2021 Tipo de documento: Article