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Genotype-phenotype correlations
Original research
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders

Authors

  • Francesco Nicita Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Roma, Italy PubMed articlesGoogle scholar articles
  • Monia Ginevrino Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario “A. Gemelli” IRCCS, Roma, ItalyLaboratory of Medical Genetics, IRCCS, Bambino Gesù Children's Hospital, Roma, Italy PubMed articlesGoogle scholar articles
  • Lorena Travaglini Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Roma, Italy PubMed articlesGoogle scholar articles
  • Stefano D'Arrigo Department of Developmental Neurology, Fondazione IRCCS, Istituto Neurologico Carlo Besta, Milano, Italy PubMed articlesGoogle scholar articles
  • Giovanna Zorzi Child Neuropsychiatry Unit, Fondazione IRCCS, Istituto Neurologico Carlo Besta, Milano, Italy PubMed articlesGoogle scholar articles
  • Renato Borgatti Department of Brain and Behavioral Sciences, University of Pavia, Pavia, ItalyIRCCS Mondino Foundation, Pavia, Italy PubMed articlesGoogle scholar articles
  • Gaetano Terrone Department of Translational Medicine, Section of Pediatrics, Child Neurology Unit, Universita degli Studi di Napoli Federico II, Napoli, Campania, Italy PubMed articlesGoogle scholar articles
  • Michela Catteruccia Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Roma, Italy PubMed articlesGoogle scholar articles
  • Gessica Vasco Unit of Neurorehabilitation, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Roma, Italy PubMed articlesGoogle scholar articles
  • Vesna Brankovic Clinic for Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia PubMed articlesGoogle scholar articles
  • Sabrina Siliquini Child Neuropsychiatry Unit, Pediatric Hospital G. Salesi, Ospedali Riuniti, Ancona, Italy PubMed articlesGoogle scholar articles
  • Silvia Romano Neurosciences, Mental Health, and Sensory Organs (NESMOS) Department, Center for Experimental Neurological Therapies, S. Andrea Hospital Site, Sapienza University of Rome, Rome, Italy PubMed articlesGoogle scholar articles
  • Chiara Veredice Child Neurology and Psychiatry, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rom, Italy PubMed articlesGoogle scholar articles
  • Marina Pedemonte Unit of Pediatric Neurology and Muscle Diseases, IRCCS Istituto Giannina Gaslini, Genova, Italy PubMed articlesGoogle scholar articles
  • Michelina Armando Unit of Neurorehabilitation, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Roma, Italy PubMed articlesGoogle scholar articles
  • Donatella Lettori Unit of Neurorehabilitation, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Roma, Italy PubMed articlesGoogle scholar articles
  • Fabrizia Stregapede Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Roma, ItalyDepartment of Sciences, Roma Tre University, Rom, Italy PubMed articlesGoogle scholar articles
  • Luca Bosco Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Roma, Italy PubMed articlesGoogle scholar articles
  • Antonella Sferra Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Roma, Italy PubMed articlesGoogle scholar articles
  • Valeria Tessarollo Department of Developmental Neurology, Fondazione IRCCS, Istituto Neurologico Carlo Besta, Milano, Italy PubMed articlesGoogle scholar articles
  • Romina Romaniello Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Lecco, Italy PubMed articlesGoogle scholar articles
  • Giovanni Ristori Neurosciences, Mental Health, and Sensory Organs (NESMOS) Department, Center for Experimental Neurological Therapies, S. Andrea Hospital Site, Sapienza University of Rome, Rome, Italy PubMed articlesGoogle scholar articles
  • Enrico Bertini Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Roma, Italy PubMed articlesGoogle scholar articles
  • Enza Maria Valente IRCCS Mondino Foundation, Pavia, ItalyDepartment of Molecular Medicine, University of Pavia, Pavia, Italy PubMed articlesGoogle scholar articles
  • Ginevra Zanni Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Roma, Italy PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Francesco Nicita, Rome, Italy; francesco.nicita{at}opbg.net
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Citation

Nicita F, Ginevrino M, Travaglini L, et al
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders
Journal of Medical Genetics Published Online First: 31 July 2020. doi: 10.1136/jmedgenet-2020-107007

Publication history

  • Received March 16, 2020
  • Revised May 22, 2020
  • Accepted May 30, 2020
  • First published July 31, 2020.

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© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.