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The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family.
Mammi, Alessia; Geroldi, Alessandro; Patrone, Serena; Gotta, Fabio; Origone, Paola; Gaudio, Andrea; La Barbera, Andrea; Sanguineri, Francesca; Ponti, Clarissa; Iacomino, Michele; Traverso, Monica; Ferlazzo, Edoardo; Schenone, Angelo; Pascarella, Angelo; Marsico, Oreste; Mandich, Paola; Bellone, Emilia.
Afiliación
  • Mammi A; IRCCS Ospedale Policlinico San Martino, UOC Medical Genetics, Genoa, Italy.
  • Geroldi A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genoa, Italy.
  • Patrone S; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genoa, Italy.
  • Gotta F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genoa, Italy.
  • Origone P; IRCCS Ospedale Policlinico San Martino, UOC Medical Genetics, Genoa, Italy.
  • Gaudio A; IRCCS Ospedale Policlinico San Martino, UOC Medical Genetics, Genoa, Italy.
  • La Barbera A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genoa, Italy.
  • Sanguineri F; IRCCS Ospedale Policlinico San Martino, UOC Medical Genetics, Genoa, Italy.
  • Ponti C; IRCCS Ospedale Policlinico San Martino, UOC Medical Genetics, Genoa, Italy.
  • Iacomino M; IRCCS Ospedale Policlinico San Martino, UOC Medical Genetics, Genoa, Italy.
  • Traverso M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genoa, Italy.
  • Ferlazzo E; IRCCS Ospedale Policlinico San Martino, UOC Medical Genetics, Genoa, Italy.
  • Schenone A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genoa, Italy.
  • Pascarella A; IRCCS Istituto Giannina Gaslini, Medical Genetic Unit, Genoa, Italy.
  • Marsico O; IRCCS Istituto Giannina Gaslini, Medical Genetic Unit, Genoa, Italy.
  • Mandich P; Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Catanzaro, Italy.
  • Bellone E; Regional Epilepsy Centre, "Bianchi-Melacrino-Morelli" Great Metropolitan Hospital, Reggio Calabria, Italy.
J Peripher Nerv Syst ; 29(2): 279-285, 2024 Jun.
Article en En | MEDLINE | ID: mdl-38874107
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedades Pancreáticas Límite: Adult / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: J Peripher Nerv Syst Asunto de la revista: NEUROLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Italia
Texto completo
Añadir a Mi BVS
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XML
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedades Pancreáticas Límite: Adult / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: J Peripher Nerv Syst Asunto de la revista: NEUROLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Italia