A novel p.Ser108LeufsTer15 SOD1 mutation leading to the formation of a premature stop codon in an apparently sporadic ALS patient: insights into the underlying pathomechanisms

Antonio Canosa, Giovanni De Marco, Annarosa Lomartire, Maria Teresa Rinaudo, Ferdinando Di Cunto, Emilia Turco, Marco Barberis, Maura Brunetti, Federico Casale, Cristina Moglia, Andrea Calvo, Stefan L Marklund, Peter M Andersen, Gabriele Mora, Adriano Chiò

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Medicine & Life Sciences