A familial ALS case carrying a novel p.G147C SOD1 heterozygous missense mutation with non-executive cognitive impairment

J Neurol Neurosurg Psychiatry. 2014 Dec;85(12):1437-9. doi: 10.1136/jnnp-2013-307552. Epub 2014 Apr 25.

¹ '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.
² 'Rita Levi Montalcini' Department of Neuroscience, ALS Center, University of Turin, Turin, Italy.
³ Laboratory of Molecular Genetics, A.O.U. Città della Salute e della Scienza di Torino, Turin, Italy.
⁴ Department of Nuclear Medicine, Positron Emission Tomography Centre, IRMET S.p.A., Turin, Italy.
⁵ Department of Neuroradiology, A.O.U. Città della Salute e della Scienza di Torino, Turin, Italy.
⁶ Unità Operativa di Neurologia, Presidio Ospedaliero Santa Chiara, APSS di Trento, Trento, Italy.
⁷ 'Rita Levi Montalcini' Department of Neuroscience, ALS Center, University of Turin, Turin, Italy Neuroscience Institute of Turin, Turin, Italy.

No abstract available

Keywords: ALS; COGNITION; GENETICS.

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