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A familial ALS case carrying a novel p.G147C SOD1 heterozygous missense mutation with non-executive cognitive impairment.
Canosa, Antonio; Calvo, Andrea; Moglia, Cristina; Iazzolino, Barbara; Brunetti, Maura; Restagno, Gabriella; Cistaro, Angelina; Fania, Piercarlo; Carrara, Giovanna; Valentini, Maria Consuelo; Tanel, Raffaella; Chiò, Adriano.
Afiliación
  • Canosa A; 'Rita Levi Montalcini' Department of Neuroscience, ALS Center, University of Turin, Turin, Italy Department of Neurosciences, Ophthalmology, Genetics, Rehabilitation and Child Health, University of Genoa, Genoa, Italy.
  • Calvo A; 'Rita Levi Montalcini' Department of Neuroscience, ALS Center, University of Turin, Turin, Italy.
  • Moglia C; 'Rita Levi Montalcini' Department of Neuroscience, ALS Center, University of Turin, Turin, Italy.
  • Iazzolino B; 'Rita Levi Montalcini' Department of Neuroscience, ALS Center, University of Turin, Turin, Italy.
  • Brunetti M; Laboratory of Molecular Genetics, A.O.U. Città della Salute e della Scienza di Torino, Turin, Italy.
  • Restagno G; Laboratory of Molecular Genetics, A.O.U. Città della Salute e della Scienza di Torino, Turin, Italy.
  • Cistaro A; Department of Nuclear Medicine, Positron Emission Tomography Centre, IRMET S.p.A., Turin, Italy.
  • Fania P; Department of Nuclear Medicine, Positron Emission Tomography Centre, IRMET S.p.A., Turin, Italy.
  • Carrara G; Department of Neuroradiology, A.O.U. Città della Salute e della Scienza di Torino, Turin, Italy.
  • Valentini MC; Department of Neuroradiology, A.O.U. Città della Salute e della Scienza di Torino, Turin, Italy.
  • Tanel R; Unità Operativa di Neurologia, Presidio Ospedaliero Santa Chiara, APSS di Trento, Trento, Italy.
  • Chiò A; 'Rita Levi Montalcini' Department of Neuroscience, ALS Center, University of Turin, Turin, Italy Neuroscience Institute of Turin, Turin, Italy.
J Neurol Neurosurg Psychiatry ; 85(12): 1437-9, 2014 Dec.
Article en En | MEDLINE | ID: mdl-24769475
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Superóxido Dismutasa / Trastornos del Conocimiento / Mutación Missense / Esclerosis Amiotrófica Lateral Límite: Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: J Neurol Neurosurg Psychiatry Año: 2014 Tipo del documento: Article País de afiliación: Italia
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Superóxido Dismutasa / Trastornos del Conocimiento / Mutación Missense / Esclerosis Amiotrófica Lateral Límite: Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: J Neurol Neurosurg Psychiatry Año: 2014 Tipo del documento: Article País de afiliación: Italia