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A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.
Geroldi, Alessandro; Tozza, Stefano; Fiorillo, Chiara; Nolano, Maria; Fossa, Paola; Vitale, Floriana; Domi, Regi; Gaudio, Andrea; Mammi, Alessia; Patrone, Serena; Barbera, Andrea La; Origone, Paola; Ponti, Clarissa; Sanguineri, Francesca; Zara, Federico; Cataldi, Matteo; Salpietro, Vincenzo; Venturi, Consuelo Barbara; Massucco, Sara; Schenone, Angelo; Manganelli, Fiore; Mandich, Paola; Bellone, Emilia; Gotta, Fabio.
Affiliation
  • Geroldi A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genoa, Italy.
  • Tozza S; Department of Neuroscience, Reproductive and Odontostomatological Sciences, University of Naples Federico II, Naples, Italy.
  • Fiorillo C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genoa, Italy.
  • Nolano M; Child Neuropsychiatric Unit, IRCCS Institute G. Gaslini, Genoa, Italy.
  • Fossa P; Department of Neuroscience, Reproductive and Odontostomatological Sciences, University of Naples Federico II, Naples, Italy.
  • Vitale F; Department of Pharmacy, University of Genoa, Genoa, Italy.
  • Domi R; Department of Neuroscience, Reproductive and Odontostomatological Sciences, University of Naples Federico II, Naples, Italy.
  • Gaudio A; Department of Pharmacy, University of Genoa, Genoa, Italy.
  • Mammi A; OU Medical Genetics, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
  • Patrone S; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genoa, Italy.
  • Barbera A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genoa, Italy.
  • Origone P; OU Medical Genetics, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
  • Ponti C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genoa, Italy.
  • Sanguineri F; OU Medical Genetics, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
  • Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genoa, Italy.
  • Cataldi M; OU Medical Genetics, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
  • Salpietro V; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genoa, Italy.
  • Venturi CB; OU Medical Genetics, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
  • Massucco S; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genoa, Italy.
  • Schenone A; Medical Genetic Unit, IRCCS Institute G. Gaslini, Genoa, Italy.
  • Manganelli F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genoa, Italy.
  • Mandich P; Child Neuropsychiatric Unit, IRCCS Institute G. Gaslini, Genoa, Italy.
  • Bellone E; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genoa, Italy.
  • Gotta F; Medical Genetic Unit, IRCCS Institute G. Gaslini, Genoa, Italy.
J Peripher Nerv Syst ; 28(4): 620-628, 2023 12.
Article in En | MEDLINE | ID: mdl-37897416
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Polyneuropathies / RNA Polymerase III / Demyelinating Diseases / Peripheral Nervous System Diseases Limits: Adolescent / Humans Language: En Journal: J Peripher Nerv Syst Journal subject: NEUROLOGIA Year: 2023 Type: Article Affiliation country: Italy
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Polyneuropathies / RNA Polymerase III / Demyelinating Diseases / Peripheral Nervous System Diseases Limits: Adolescent / Humans Language: En Journal: J Peripher Nerv Syst Journal subject: NEUROLOGIA Year: 2023 Type: Article Affiliation country: Italy