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A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease.
Ciotti, Paola; Luigetti, Marco; Geroldi, Alessandro; Capponi, Simona; Pezzini, Ilaria; Gulli, Rossella; Pazzaglia, Costanza; Padua, Luca; Massa, Roberto; Mandich, Paola; Bellone, Emilia.
Afiliación
  • Ciotti P; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Italy and UO Medical Genetics, IRCCS AOU San Martino-IST, Genova, Italy. Electronic address: paola.ciotti@unige.it.
  • Luigetti M; Department of Geriatrics, Neurosciences & Orthopedics, Catholic University of Sacred Heart, Rome, Italy.
  • Geroldi A; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Italy and UO Medical Genetics, IRCCS AOU San Martino-IST, Genova, Italy.
  • Capponi S; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Italy and UO Medical Genetics, IRCCS AOU San Martino-IST, Genova, Italy.
  • Pezzini I; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Italy and UO Medical Genetics, IRCCS AOU San Martino-IST, Genova, Italy.
  • Gulli R; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Italy and UO Medical Genetics, IRCCS AOU San Martino-IST, Genova, Italy.
  • Pazzaglia C; Don Carlo Gnocchi Onlus Foundation, Milan, Italy.
  • Padua L; Department of Geriatrics, Neurosciences & Orthopedics, Catholic University of Sacred Heart, Rome, Italy; Don Carlo Gnocchi Onlus Foundation, Milan, Italy.
  • Massa R; Institute of Neurology, Tor Vergata University, Rome, Italy.
  • Mandich P; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Italy and UO Medical Genetics, IRCCS AOU San Martino-IST, Genova, Italy.
  • Bellone E; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Italy and UO Medical Genetics, IRCCS AOU San Martino-IST, Genova, Italy.
J Neurol Sci ; 343(1-2): 183-6, 2014 Aug 15.
Article en En | MEDLINE | ID: mdl-24880540
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Factores de Transcripción / Proteínas Nucleares / Enfermedad de Charcot-Marie-Tooth / Salud de la Familia / Proteínas de la Membrana / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: J Neurol Sci Año: 2014 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Factores de Transcripción / Proteínas Nucleares / Enfermedad de Charcot-Marie-Tooth / Salud de la Familia / Proteínas de la Membrana / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: J Neurol Sci Año: 2014 Tipo del documento: Article